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Disease on EC 3.1.3.36 - phosphoinositide 5-phosphatase and Organism(s) Homo sapiens and UniProt Accession P32019

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Acidosis
Dent Disease with mutations in OCRL1.
Acidosis, Renal Tubular
Dent Disease with mutations in OCRL1.
Acquired Immunodeficiency Syndrome
Human immunodeficiency virus isolates from asymptomatic homosexual men and from AIDS patients have distinct biologic and genetic properties.
Alzheimer Disease
A structure of substrate-bound Synaptojanin1 provides new insights in its mechanism and the effect of disease mutations.
Arf6 and the 5'phosphatase of Synaptojanin 1 regulate autophagy in cone photoreceptors.
Arf6 and the 5'phosphatase of synaptojanin 1 regulate autophagy in cone photoreceptors.
Combining data integration and molecular dynamics for target identification in ?-Synuclein-aggregating neurodegenerative diseases: Structural insights on Synaptojanin-1 (Synj1).
Excess Synaptojanin 1 Contributes to Place Cell Dysfunction and Memory Deficits in the Aging Hippocampus in Three Types of Alzheimer's Disease.
Identification of crizotinib derivatives as potent SHIP2 inhibitors for the treatment of Alzheimer's disease.
Pan-SHIP1/2 inhibitors promote microglia effector functions essential for CNS homeostasis.
Presynaptic endocytic factors in autophagy and neurodegeneration.
Reduction of synaptojanin 1 ameliorates synaptic and behavioral impairments in a mouse model of Alzheimer's disease.
Synaptojanin 1 mutation in Parkinson's disease brings further insight into the neuropathological mechanisms.
Synaptophysin and Synaptojanin-1 in Down Syndrome are Differentially Affected by Alzheimer's Disease.
The lipid phosphatase Synaptojanin 1 undergoes a significant alteration in expression and solubility and is associated with brain lesions in Alzheimer's disease.
Anaphylaxis
Small-molecule agonists of SHIP1 inhibit the phosphoinositide 3-kinase pathway in hematopoietic cells.
Arthritis
Inhibition of lipid phosphatase SHIP1 expands myeloid-derived suppressor cells and attenuates rheumatoid arthritis in mice.
Arthritis, Rheumatoid
Inhibition of lipid phosphatase SHIP1 expands myeloid-derived suppressor cells and attenuates rheumatoid arthritis in mice.
Asthma
The effects of the novel SHIP1 activator AQX-1125 on allergen-induced responses in mild-to-moderate asthma.
Astrocytoma
Evidence of SHIP2 S132 phosphorylation, its nuclear localization and stability.
SHIP2 signalling at the plasma membrane, in the nucleus and at focal contacts.
Atherosclerosis
CD and NMR conformational studies of a peptide encompassing the Mid Loop interface of Ship2-Sam.
SHIP2 and its involvement in various diseases.
Autoimmune Diseases
Inhibition of lipid phosphatase SHIP1 expands myeloid-derived suppressor cells and attenuates rheumatoid arthritis in mice.
Bardet-Biedl Syndrome
INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse.
Blindness
Deletion of the phosphatase INPP5E in the murine retina impairs photoreceptor axoneme formation and prevents disc morphogenesis.
Brain Diseases
Electroclinical Findings of SYNJ1 Epileptic Encephalopathy.
Breast Neoplasms
A novel oncogenic role of inositol phosphatase SHIP2 in ER-negative breast cancer stem cells: involvement of JNK/vimentin activation.
High expression of obesity-linked phosphatase SHIP2 in invasive breast cancer correlates with reduced disease-free survival.
Inhibition of SHIP2 activity inhibits cell migration and could prevent metastasis in breast cancer cells.
IRSp53 is a novel interactor of SHIP2: A role of the actin binding protein Mena in their cellular localization in breast cancer cells.
Phosphoinositol phosphatase SHIP2 promotes cancer development and metastasis coupled with alterations in EGF receptor turnover.
PI(3,4)P2 plays critical roles in the regulation of focal adhesion dynamics of MDA-MB-231 breast cancer cells.
PTEN and Other PtdIns(3,4,5)P3 Lipid Phosphatases in Breast Cancer.
Regulation of PtdIns(3,4,5)P3/Akt signalling by inositol polyphosphate 5-phosphatases.
SGK3 mediates INPP4B-dependent PI3K signaling in breast cancer.
SHIP2 phosphoinositol phosphatase positively regulates EGFR-Akt pathway, CXCR4 expression, and cell migration in MDA-MB-231 breast cancer cells.
Synaptojanin 2 is a druggable mediator of metastasis and the gene is overexpressed and amplified in breast cancer.
The Inositol Polyphosphate 5-Phosphatase PIPP Regulates AKT1-Dependent Breast Cancer Growth and Metastasis.
Therapeutic Potential of SH2 Domain-Containing Inositol-5'-Phosphatase 1 (SHIP1) and SHIP2 Inhibition in Cancer.
Tks5 and SHIP2 regulate invadopodium maturation, but not initiation, in breast carcinoma cells.
Upregulation of SHIP2 participates in the development of breast cancer via promoting Wnt/?-catenin signaling.
Candidiasis
The Candida albicans phosphatase Inp51p interacts with the EH domain protein Irs4p, regulates phosphatidylinositol-4,5-bisphosphate levels and influences hyphal formation, the cell integrity pathway and virulence.
Carcinogenesis
Decreased Sp1 Expression Mediates Downregulation of SHIP2 in Gastric Cancer Cells.
Inactivation of SHIP1 in T-cell acute lymphoblastic leukemia due to mutation and extensive alternative splicing.
Lipid phosphatase SHIP2 functions as oncogene in colorectal cancer by regulating PKB activation.
PTEN and Other PtdIns(3,4,5)P3 Lipid Phosphatases in Breast Cancer.
Suppression of SHIP2 contributes to tumorigenesis and proliferation of gastric cancer cells via activation of Akt.
Upregulation of SHIP2 participates in the development of breast cancer via promoting Wnt/?-catenin signaling.
Carcinoma
5'-Inositol phosphatase SHIP2 recruits Mena to stabilize invadopodia for cancer cell invasion.
AKT1 and PTEN show the highest affinities among phosphoinositide binding proteins for the second messengers PtdIns(3,4,5)P3 and PtdIns(3,4)P2.
Ectopic Expression of Hematopoietic SHIP1 in Human Colorectal Cancer.
High expression of obesity-linked phosphatase SHIP2 in invasive breast cancer correlates with reduced disease-free survival.
Loss of inositol polyphosphate 5-phosphatase is an early event in development of cutaneous squamous cell carcinoma.
Prognostic value of elevated SHIP2 expression in laryngeal squamous cell carcinoma.
Synaptojanin 2 functions at an early step of clathrin-mediated endocytosis.
The prognostic value of inositol polyphosphate 5-phosphatase in cutaneous squamous cell carcinoma in the general population.
The prognostic value of inositol polyphosphate 5-phosphatase in cutaneous squamous cell carcinoma.
Tissue distribution and intracellular localisation of the 75-kDa inositol polyphosphate 5-phosphatase.
Carcinoma, Ductal
High expression of obesity-linked phosphatase SHIP2 in invasive breast cancer correlates with reduced disease-free survival.
Carcinoma, Hepatocellular
Amplified increase in signal transduction activity in cancer cells.
Downregulation of SHIP2 by Hepatitis B Virus X Promotes the Metastasis and Chemoresistance of Hepatocellular Carcinoma through SKP2.
High expression of inositol polyphosphate phosphatase-like 1 associates with unfavorable survival in hepatocellular carcinoma.
Identifying the Prognostic Risk Factors of Synaptojanin 2 and Its Underlying Perturbations Pathways in Hepatocellular Carcinoma.
Significance of glucose intolerance and SHIP2 expression in hepatocellular carcinoma patients with HCV infection.
Carcinoma, Intraductal, Noninfiltrating
High expression of obesity-linked phosphatase SHIP2 in invasive breast cancer correlates with reduced disease-free survival.
Carcinoma, Non-Small-Cell Lung
Elevated expression of SHIP2 correlates with poor prognosis in non-small cell lung cancer.
PLEK2 mediates metastasis and vascular invasion via the ubiquitin-dependent degradation of SHIP2 in non-small cell lung cancer.
Carcinoma, Squamous Cell
Loss of inositol polyphosphate 5-phosphatase is an early event in development of cutaneous squamous cell carcinoma.
The prognostic value of inositol polyphosphate 5-phosphatase in cutaneous squamous cell carcinoma in the general population.
The prognostic value of inositol polyphosphate 5-phosphatase in cutaneous squamous cell carcinoma.
Cataract
All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding.
Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of Lowe.
Dent Disease with mutations in OCRL1.
Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation.
Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice.
Lowe Syndrome protein OCRL1 supports maturation of polarized epithelial cells.
Lowe syndrome-linked endocytic adaptors direct membrane cycling kinetics with OCRL in Dictyostelium discoideum.
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
Novel OCRL1 mutations in patients with the phenotype of Dent disease.
OCRL1 Modulates Cilia Length in Renal Epithelial Cells.
OCRL1 mutation in a boy with Dent disease, mild mental retardation, but without cataracts.
Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis.
Prevalence of Congenital Ocular Anomalies among Children with Genetic Disorders: An Egyptian Study.
Charcot-Marie-Tooth Disease
Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome.
FIG4 regulates lysosome membrane homeostasis independent of phosphatase function.
Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.
Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy.
Ciliopathies
A splice site variant in INPP5E causes diffuse cystic renal dysplasia and hepatic fibrosis in dogs.
A transient role of the ciliary gene Inpp5e in controlling direct versus indirect neurogenesis in cortical development.
ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting.
BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan.
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.
Ciliary Phosphoinositide Regulates Ciliary Protein Trafficking in Drosophila.
Ciliopathies: Inpp5e links lipids, cysts and cilia.
Deletion of the phosphatase INPP5E in the murine retina impairs photoreceptor axoneme formation and prevents disc morphogenesis.
Induction of an Alternative mRNA 5' Leader Enhances Translation of the Ciliopathy Gene Inpp5e and Resistance to Oncolytic Virus Infection.
Inositol polyphosphate phosphatases in human disease.
INPP5E interacts with AURKA, linking phosphoinositide signaling to primary cilium stability.
INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse.
Inpp5e suppresses polycystic kidney disease via inhibition of PI3K/Akt-dependent mTORC1 signaling.
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Prenylated retinal ciliopathy protein RPGR interacts with PDE6? and regulates ciliary localization of Joubert syndrome-associated protein INPP5E.
Proteomic analysis of Mammalian primary cilia.
Regulation of PtdIns(3,4,5)P3/Akt signalling by inositol polyphosphate 5-phosphatases.
The Joubert Syndrome Protein Inpp5e Controls Ciliogenesis by Regulating Phosphoinositides at the Apical Membrane.
Cleft Lip
Identification of inactivating mutations in the JAK1, SYNJ2, and CLPTM1 genes in prostate cancer cells using inhibition of nonsense-mediated decay and microarray analysis.
Colitis
Interleukin-10 and Small Molecule SHIP1 Allosteric Regulators Trigger Anti-inflammatory Effects through SHIP1/STAT3 Complexes.
Colitis, Ulcerative
SHIP1 Deficiency in Inflammatory Bowel Disease Is Associated With Severe Crohn's Disease and Peripheral T Cell Reduction.
Colonic Neoplasms
Multiple defects in negative regulation of the PKB/Akt pathway sensitise human cancer cells to the antiproliferative effect of non-steroidal anti-inflammatory drugs.
Colorectal Neoplasms
Ectopic Expression of Hematopoietic SHIP1 in Human Colorectal Cancer.
High SHIP2 expression indicates poor survival in colorectal cancer.
Lipid phosphatase SHIP2 functions as oncogene in colorectal cancer by regulating PKB activation.
Upregulation of miR?598 promotes cell proliferation and cell cycle progression in human colorectal carcinoma by suppressing INPP5E expression.
Congenital Abnormalities
SH2-containing 5'-inositol phosphatase, SHIP2, regulates cytoskeleton organization and ligand-dependent down-regulation of the epidermal growth factor receptor.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Evidence of a role of inositol polyphosphate 5-phosphatase INPP5E in cilia formation in zebrafish.
T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase.
Crohn Disease
Analysis of SHIP1 expression and activity in Crohn's disease patients.
Impaired T-cell survival promotes mucosal inflammatory disease in SHIP1-deficient mice.
Role of SHIP1 in cancer and mucosal inflammation.
SHIP1 Deficiency in Inflammatory Bowel Disease Is Associated With Severe Crohn's Disease and Peripheral T Cell Reduction.
Cysts
?-catenin ablation exacerbates polycystic kidney disease progression.
Ciliopathies: Inpp5e links lipids, cysts and cilia.
Eruptive vellus hair cysts in a patient with Lowe syndrome.
Evidence of a role of inositol polyphosphate 5-phosphatase INPP5E in cilia formation in zebrafish.
Lowe Syndrome protein OCRL1 supports maturation of polarized epithelial cells.
OCRL1 Modulates Cilia Length in Renal Epithelial Cells.
The Joubert Syndrome Protein Inpp5e Controls Ciliogenesis by Regulating Phosphoinositides at the Apical Membrane.
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.
Dementia
Non-motor symptoms and cardiac innervation in SYNJ1-related parkinsonism.
Pan-SHIP1/2 inhibitors promote microglia effector functions essential for CNS homeostasis.
Dent Disease
A novel CLCN5 mutation in a Chinese boy with Dent's disease.
A PH domain within OCRL bridges clathrin-mediated membrane trafficking to phosphoinositide metabolism.
A role of OCRL in clathrin-coated pit dynamics and uncoating revealed by studies of Lowe syndrome cells.
All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding.
Clinical manifestation and genetic findings in three boys with low molecular Weight Proteinuria - three case reports for exploring Dent Disease and Fanconi syndrome.
Dent Disease in Chinese Children and Findings from Heterozygous Mothers: Phenotypic Heterogeneity, Fetal Growth, and 10 Novel Mutations.
Dent Disease with mutations in OCRL1.
Dent's disease.
Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation.
From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.
Kidney Tubular Ablation of
Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations.
Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.
Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease.
Novel OCRL1 mutations in patients with the phenotype of Dent disease.
OCRL Deficiency Impairs Endolysosomal Function in a Humanized Mouse Model for Lowe Syndrome and Dent Disease.
OCRL1 mutation in a boy with Dent disease, mild mental retardation, but without cataracts.
OCRL1 Mutations in Dent 2 Patients Suggest a Mechanism for Phenotypic Variability.
OCRL1 mutations in patients with Dent disease phenotype in Japan.
Phenotype and genotype of Dent's disease in three Chinese boys.
Phenotype of Dent Disease in a Cohort of Indian Children.
Recognition of the F&H motif by the Lowe syndrome protein OCRL.
Renal manifestations of Dent disease and Lowe syndrome.
The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway.
Two brothers with identical variants of the CLCN5 gene-one developing Dent's disease.
[From gene to disease; Dent's disease caused by abnormalities in the CLCN5 and OCRL1 genes]
Diabetes Mellitus
Novel Sulfonanilide Inhibitors of SHIP2 Enhance Glucose Uptake into Cultured Myotubes.
Role of phosphatidylinositol 3-kinase activation on insulin action and its alteration in diabetic conditions.
SHIP2: an emerging target for the treatment of type 2 diabetes mellitus.
Single nucleotide polymorphisms on SHIP2 is associated with Type 2 diabetes mellitus in Chinese Han population.
The SH2 domain containing inositol polyphosphate 5-phosphatase-2: SHIP2.
Diabetes Mellitus, Type 2
A new layer of phosphoinositide-mediated allosteric regulation uncovered for SHIP2.
Can Alzheimer disease be a form of type 3 diabetes?
Discovery and functional characterization of a novel small molecule inhibitor of the intracellular phosphatase, SHIP2.
Expression, Purification, Crystallisation and X-ray Crystallographic Analysis of a Truncated Form of Human Src Homology 2 Containing Inositol 5-Phosphatase 2.
Impact of SRC homology 2-containing inositol 5'-phosphatase 2 gene polymorphisms detected in a Japanese population on insulin signaling.
Impact of transgenic overexpression of SH2-containing inositol 5'-phosphatase 2 on glucose metabolism and insulin signaling in mice.
Inhibition of SH2-domain containing inositol phosphatase 2 (SHIP2) in insulin producing INS1E cells improves insulin signal transduction and induces proliferation.
Inhibitors of the lipid phosphatase SHIP2 discovered by high-throughput affinity selection-mass spectrometry screening of combinatorial libraries.
Lipid phosphatases as a possible therapeutic target in cases of type 2 diabetes and obesity.
Normalization of prandial blood glucose and improvement of glucose tolerance by liver-specific inhibition of SH2 domain containing inositol phosphatase 2 (SHIP2) in diabetic KKAy mice: SHIP2 inhibition causes insulin-mimetic effects on glycogen metabolism, gluconeogenesis, and glycolysis.
Novel Sulfonanilide Inhibitors of SHIP2 Enhance Glucose Uptake into Cultured Myotubes.
SHIP2 and its involvement in various diseases.
SHIP2: an emerging target for the treatment of type 2 diabetes mellitus.
SHIPping out diabetes-Metformin, an old friend among new SHIP2 inhibitors.
Single nucleotide polymorphisms on SHIP2 is associated with Type 2 diabetes mellitus in Chinese Han population.
The gene INPPL1, encoding the lipid phosphatase SHIP2, is a candidate for type 2 diabetes in rat and man.
The inositol phosphatase SHIP2 negatively regulates insulin/IGF-I actions implicated in neuroprotection and memory function in mouse brain.
The SH2 domain containing inositol polyphosphate 5-phosphatase-2: SHIP2.
["SHIP2 and insulin signaling: what is its role in the pathogenesis and treatment of type 2 diabetes?"]
Diabetic Nephropathies
Novel Sulfonanilide Inhibitors of SHIP2 Enhance Glucose Uptake into Cultured Myotubes.
Protein phosphatases and podocyte function.
SHIPping out diabetes-Metformin, an old friend among new SHIP2 inhibitors.
Down Syndrome
A structure of substrate-bound Synaptojanin1 provides new insights in its mechanism and the effect of disease mutations.
Excess Synaptojanin 1 Contributes to Place Cell Dysfunction and Memory Deficits in the Aging Hippocampus in Three Types of Alzheimer's Disease.
Excessive expression of synaptojanin in brains with Down syndrome.
Phosphorylation of Synaptojanin Differentially Regulates Endocytosis of Functionally Distinct Synaptic Vesicle Pools.
Synaptojanin 1 mutation in Parkinson's disease brings further insight into the neuropathological mechanisms.
Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome.
Synaptojanin-1 plays a key role in astrogliogenesis: possible relevance for Down's syndrome.
Synaptophysin and Synaptojanin-1 in Down Syndrome are Differentially Affected by Alzheimer's Disease.
Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes.
Drug Resistant Epilepsy
Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology.
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.
Dysentery
Shigella flexneri infection generates the lipid PI5P to alter endocytosis and prevent termination of EGFR signaling.
Dyslipidemias
SH2 domain-containing inositol 5-phosphatase (SHIP2) inhibition ameliorates high glucose-induced de-novo lipogenesis and VLDL production through regulating AMPK/mTOR/SREBP1 pathway and ROS production in HepG2 cells.
SH2 domain-containing inositol 5-phosphatase (SHIP2) regulates de-novo lipogenesis and secretion of apoB100 containing lipoproteins in HepG2 cells.
Dystonia
'Atypical' Parkinson's disease - genetic.
Mutation in the SYNJ1 Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism.
Non-motor symptoms and cardiac innervation in SYNJ1-related parkinsonism.
Encephalitis, Japanese
Pathogenicity and virulence of Japanese encephalitis virus: Neuroinflammation and neuronal cell damage.
Endotoxemia
Small-molecule agonists of SHIP1 inhibit the phosphoinositide 3-kinase pathway in hematopoietic cells.
Epidermal Cyst
Novel mutation of OCRL1 in Lowe syndrome with multiple epidermal cysts.
Epilepsy
A Novel SYNJ1 Mutation in a Tunisian Family with Juvenile Parkinson's Disease Associated with Epilepsy.
A structure of substrate-bound Synaptojanin1 provides new insights in its mechanism and the effect of disease mutations.
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.
Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.
Epileptic Syndromes
Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.
Fanconi Syndrome
A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway.
All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding.
Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice.
Gastroenteritis
A Vibrio effector protein is an inositol phosphatase and disrupts host cell membrane integrity.
Genetic Diseases, Inborn
A novel CLCN5 mutation in a Chinese boy with Dent's disease.
Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypes.
Modeling the neuropsychiatric manifestations of Lowe syndrome using induced pluripotent stem cells: defective F-actin polymerization and WAVE-1 expression in neuronal cells.
Phosphatidylinositol signalling reactions.
Phosphoinositide signaling disorders in human diseases.
Phosphoinositides in the kidney.
PTEN reduces endosomal PtdIns(4,5)P2 in a phosphatase-independent manner via a PLC pathway.
Role of oculocerebrorenal syndrome of Lowe (OCRL) protein in megakaryocyte maturation, platelet production and functions: a study in patients with Lowe syndrome.
Genetic Diseases, X-Linked
Lowe syndrome: Between primary cilia assembly and Rac1-mediated membrane remodeling.
Glaucoma
Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of Lowe.
Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation.
Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis.
Glioblastoma
Lipid phosphatases SKIP and SHIP2 regulate fibronectin-dependent cell migration in glioblastoma.
Phosphoinositide 5-phosphatase activities control cell motility in glioblastoma: Two phosphoinositides PI(4,5)P2 and PI(3,4)P2 are involved.
Role of synaptojanin 2 in glioma cell migration and invasion.
SHIP2 controls plasma membrane PI(4,5)P2 thereby participating in the control of cell migration in 1321 N1 glioblastoma.
SHIP2 signaling in normal and pathological situations: Its impact on cell proliferation.
The SHIP2 interactor Myo1c is required for cell migration in 1321 N1 glioblastoma cells.
Glioma
Role of synaptojanin 2 in glioma cell migration and invasion.
The inositol 5-phosphatase SHIP2 is an effector of RhoA and is involved in cell polarity and migration.
Glucose Intolerance
Developmental defects and rescue from glucose intolerance of a catalytically-inactive novel Ship2 mutant mouse.
Significance of glucose intolerance and SHIP2 expression in hepatocellular carcinoma patients with HCV infection.
Hearing Loss
A Mutation in Synaptojanin 2 Causes Progressive Hearing Loss in the ENU-Mutagenised Mouse Strain Mozart.
Hearing Loss, High-Frequency
Synaptojanin2 Mutation Causes Progressive High-frequency Hearing Loss in Mice.
Hematologic Neoplasms
SHIP1 inhibition increases immunoregulatory capacity and triggers apoptosis of hematopoietic cancer cells.
Hematuria
Phenotype of Dent Disease in a Cohort of Indian Children.
Hepatitis B
Downregulation of SHIP2 by Hepatitis B Virus X Promotes the Metastasis and Chemoresistance of Hepatocellular Carcinoma through SKP2.
Suppression of hepatitis B viral gene expression by phosphoinositide 5-phosphatase SKIP.
Hepatitis C
SHIP2 regulates epithelial cell polarity through its lipid product, which binds to Dlg1, a pathway subverted by hepatitis C virus core protein.
Hepatitis, Autoimmune
Anti-CD200 attenuates concanavalin A induced hepatitis via modulating the imbalance of CD4+ T lymphocyte differentiation in mice.
Hydrocephalus
OCRL1 Modulates Cilia Length in Renal Epithelial Cells.
Hypersensitivity
High expression of obesity-linked phosphatase SHIP2 in invasive breast cancer correlates with reduced disease-free survival.
Non-T Cell Activation Linker Promotes Mast Cell Survival by Dampening the Recruitment of SHIP1 by Linker for Activation of T Cells.
Regulation of Fc?RI signaling by lipid phosphatases.
The SH2 domain containing inositol polyphosphate 5-phosphatase-2: SHIP2.
Hypertension
APOE4-VLDL inhibits the HDL-activated phosphatidylinositol 3-kinase/Akt Pathway via the phosphoinositol phosphatase SHIP2.
SHIPping out diabetes-Metformin, an old friend among new SHIP2 inhibitors.
Single nucleotide polymorphisms on SHIP2 is associated with Type 2 diabetes mellitus in Chinese Han population.
Hypoglycemia
The SH2 domain containing inositol polyphosphate 5-phosphatase-2: SHIP2.
Hypogonadism
Pituitary stalk interruption syndrome is characterized by genetic heterogeneity.
Hypophosphatemia
Phenotype of Dent Disease in a Cohort of Indian Children.
Ileitis
Analysis of SHIP1 expression and activity in Crohn's disease patients.
SHIP1 Deficiency in Inflammatory Bowel Disease Is Associated With Severe Crohn's Disease and Peripheral T Cell Reduction.
Infections
A phosphoinositide 5-phosphatase from Solanum tuberosum is activated by PAMP-treatment and may antagonize phosphatidylinositol 4,5-bisphosphate at Phytophthora infestans infection sites.
Dendritic-cell expression of Ship1 regulates Th2 immunity to helminth infection in mice.
Human Cytomegalovirus Glycoprotein-Initiated Signaling Mediates the Aberrant Activation of Akt.
Induction of an Alternative mRNA 5' Leader Enhances Translation of the Ciliopathy Gene Inpp5e and Resistance to Oncolytic Virus Infection.
MicroRNA 155 Regulates Japanese Encephalitis Virus-Induced Inflammatory Response by Targeting Src Homology 2-Containing Inositol Phosphatase 1.
Myeloid cell-specific expression of Ship1 regulates IL-12 production and immunity to helminth infection.
Porcine Fc?RIIb mediated PRRSV ADE infection through inhibiting IFN-? by cytoplasmic inhibitory signal transduction.
Significance of glucose intolerance and SHIP2 expression in hepatocellular carcinoma patients with HCV infection.
Infertility, Male
X-inactivation analysis of embryonic lethality in Ocrl wt/-; Inpp5b-/- mice.
Inflammatory Bowel Diseases
SHIP1 Deficiency in Inflammatory Bowel Disease Is Associated With Severe Crohn's Disease and Peripheral T Cell Reduction.
Insulin Resistance
A small-molecule inhibitor of SHIP1 reverses age- and diet-associated obesity and metabolic syndrome.
Absence of the lipid phosphatase SHIP2 confers resistance to dietary obesity.
Antisense oligonucleotides against the lipid phosphatase SHIP2 improve muscle insulin sensitivity in a dietary rat model of the metabolic syndrome.
Endothelial SHIP2 Suppresses Nox2 NADPH Oxidase-Dependent Vascular Oxidative Stress, Endothelial Dysfunction and Systemic Insulin Resistance.
Impact of lipid phosphatases SHIP2 and PTEN on the time- and Akt-isoform-specific amelioration of TNF-alpha-induced insulin resistance in 3T3-L1 adipocytes.
Impact of transgenic overexpression of SH2-containing inositol 5'-phosphatase 2 on glucose metabolism and insulin signaling in mice.
Inhibition of 72k-5ptase improves insulin signal transduction in diet-induced obesity.
Inhibition of endogenous SHIP2 ameliorates insulin resistance caused by chronic insulin treatment in 3T3-L1 adipocytes.
INPPL1 gene mutations in opsismodysplasia.
Lipid phosphatases as a possible therapeutic target in cases of type 2 diabetes and obesity.
Novel Sulfonanilide Inhibitors of SHIP2 Enhance Glucose Uptake into Cultured Myotubes.
Phosphoinositide phosphatases: just as important as the kinases.
Protein phosphatases and podocyte function.
PTEN and SHIP2 phosphoinositide phosphatases as negative regulators of insulin signalling.
PTEN and SHIP2 regulates PI3K/Akt pathway through focal adhesion kinase.
Reversal of denervation-induced insulin resistance by SHIP2 protein synthesis blockade.
SH2 domain-containing inositol 5-phosphatase (SHIP2) inhibition ameliorates high glucose-induced de-novo lipogenesis and VLDL production through regulating AMPK/mTOR/SREBP1 pathway and ROS production in HepG2 cells.
SH2-containing inositol phosphatase 2 predominantly regulates Akt2, and not Akt1, phosphorylation at the plasma membrane in response to insulin in 3T3-L1 adipocytes.
SHIP2 overexpression strongly reduces the proliferation rate of K562 erythroleukemia cell line.
SHIP2, a factor associated with diet-induced obesity and insulin sensitivity, attenuates FGF signaling in vivo.
SHIP2: a "NEW" insulin pathway target for ageing research.
SHIP2: an emerging target for the treatment of type 2 diabetes mellitus.
SHIPping out diabetes-Metformin, an old friend among new SHIP2 inhibitors.
The c-Cbl-associated protein and c-Cbl are two new partners of the SH2-containing inositol polyphosphate 5-phosphatase SHIP2.
The inositol phosphatase SHIP2 negatively regulates insulin/IGF-I actions implicated in neuroprotection and memory function in mouse brain.
The lipid phosphatase SHIP2 controls insulin sensitivity.
The role of the inositol polyphosphate 5-phosphatases in cellular function and human disease.
The SH2 domain containing inositol 5-phosphatase SHIP2 controls phosphatidylinositol 3,4,5-trisphosphate levels in CHO-IR cells stimulated by insulin.
Insulinoma
Inhibition of SH2-domain containing inositol phosphatase 2 (SHIP2) in insulin producing INS1E cells improves insulin signal transduction and induces proliferation.
Intellectual Disability
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.
A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway.
All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding.
Co-occurring SYNJ1 and SHANK3 variants in a girl with intellectual disability, early-onset parkinsonism and catatonic episodes.
Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of Lowe.
Dent Disease with mutations in OCRL1.
Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation.
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.
Lowe syndrome protein OCRL1 interacts with Rac GTPase in the trans-Golgi network.
Lowe Syndrome protein OCRL1 supports maturation of polarized epithelial cells.
OCRL1 Modulates Cilia Length in Renal Epithelial Cells.
OCRL1 mutation in a boy with Dent disease, mild mental retardation, but without cataracts.
Ocrl1, a PtdIns(4,5)P(2) 5-phosphatase, is localized to the trans-Golgi network of fibroblasts and epithelial cells.
Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes.
Kidney Diseases, Cystic
The Joubert Syndrome Protein Inpp5e Controls Ciliogenesis by Regulating Phosphoinositides at the Apical Membrane.
Laryngeal Neoplasms
Descending-SHIP2-mediated radiosensitivity enhancement through PI3K/Akt signaling pathway in laryngeal squamous cell carcinoma.
Leukemia
Frequency and amplitude control of cortical oscillations by phosphoinositide waves.
Leukemia-associated mutations in SHIP1 inhibit its enzymatic activity, interaction with the GM-CSF receptor and Grb2, and its ability to inactivate PI3K/AKT signaling.
Phosphoinositide phosphatases: just as important as the kinases.
Leukemia, Erythroblastic, Acute
SHIP2 overexpression strongly reduces the proliferation rate of K562 erythroleukemia cell line.
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
A novel SH2-containing phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase (SHIP2) is constitutively tyrosine phosphorylated and associated with src homologous and collagen gene (SHC) in chronic myelogenous leukemia progenitor cells.
SHIP2 overexpression strongly reduces the proliferation rate of K562 erythroleukemia cell line.
Leukemia, Myeloid
SHIP1, but not an AML-derived SHIP1 mutant, suppresses myeloid leukemia growth in a xenotransplantation mouse model.
The inositol 5-phosphatase SHIP1 is a nucleo-cytoplasmic shuttling protein and enzymatically active in cell nuclei.
Leukemia, Myeloid, Acute
Leukemia-associated mutations in SHIP1 inhibit its enzymatic activity, interaction with the GM-CSF receptor and Grb2, and its ability to inactivate PI3K/AKT signaling.
Nuclear accumulation of SHIP1 mutants derived from AML patients leads to increased proliferation of leukemic cells.
Phosphoinositide signaling disorders in human diseases.
SHIP1 is targeted by miR-155 in acute myeloid leukemia.
Liver Cirrhosis
High expression of inositol polyphosphate phosphatase-like 1 associates with unfavorable survival in hepatocellular carcinoma.
Liver Neoplasms
Scaffold dependent role of the inositol 5'-phosphatase SHIP2, in regulation of oxidative stress induced apoptosis.
Lung Neoplasms
Elevated expression of SHIP2 correlates with poor prognosis in non-small cell lung cancer.
PLEK2 mediates metastasis and vascular invasion via the ubiquitin-dependent degradation of SHIP2 in non-small cell lung cancer.
SHIP1 inhibits cell growth, migration, and invasion in non?small cell lung cancer through the PI3K/AKT pathway.
Lymphatic Diseases
Evidence for SH2 domain-containing 5'-inositol phosphatase-2 (SHIP2) contributing to a lymphatic dysfunction.
Lymphatic Metastasis
Circulating SHIP2 mRNA as a novel biomarker in the diagnosis and prognosis of gastric cancer.
Ectopic Expression of Hematopoietic SHIP1 in Human Colorectal Cancer.
Elevated expression of SHIP2 correlates with poor prognosis in non-small cell lung cancer.
High SHIP2 expression indicates poor survival in colorectal cancer.
Lymphedema
Evidence for SH2 domain-containing 5'-inositol phosphatase-2 (SHIP2) contributing to a lymphatic dysfunction.
Lymphoma
Beyond the Cell Surface: Targeting Intracellular Negative Regulators to Enhance T cell Anti-Tumor Activity.
Onco-miR-155 targets SHIP1 to promote TNFalpha-dependent growth of B cell lymphomas.
Phosphoinositide phosphatase SHIP-1 regulates apoptosis induced by edelfosine, Fas ligation and DNA damage in mouse lymphoma cells.
SH2-containing inositol 5-phosphatases 1 and 2 in blood platelets: their interactions and roles in the control of phosphatidylinositol 3,4,5-trisphosphate levels.
Lymphoma, B-Cell
Onco-miR-155 targets SHIP1 to promote TNFalpha-dependent growth of B cell lymphomas.
Pathogenicity and virulence of Japanese encephalitis virus: Neuroinflammation and neuronal cell damage.
SHIP1, but not an AML-derived SHIP1 mutant, suppresses myeloid leukemia growth in a xenotransplantation mouse model.
Lymphoma, Large B-Cell, Diffuse
Onco-miR-155 targets SHIP1 to promote TNFalpha-dependent growth of B cell lymphomas.
Medulloblastoma
A compartmentalized phosphoinositide signaling axis at cilia is regulated by INPP5E to maintain cilia and promote Sonic Hedgehog medulloblastoma.
Melanoma
Loss of PI(4,5)P2 5-Phosphatase A Contributes to Resistance of Human Melanoma Cells to RAF/MEK Inhibitors.
PI(4,5)P2 5-phosphatase A regulates PI3K/Akt signalling and has a tumour suppressive role in human melanoma.
Regulation of PtdIns(3,4,5)P3/Akt signalling by inositol polyphosphate 5-phosphatases.
Memory Disorders
Excess Synaptojanin 1 Contributes to Place Cell Dysfunction and Memory Deficits in the Aging Hippocampus in Three Types of Alzheimer's Disease.
Mental Retardation, X-Linked
Lowe syndrome protein OCRL1 interacts with Rac GTPase in the trans-Golgi network.
Metabolic Diseases
SHIPping out diabetes-Metformin, an old friend among new SHIP2 inhibitors.
Metabolic Syndrome
A small-molecule inhibitor of SHIP1 reverses age- and diet-associated obesity and metabolic syndrome.
Antisense oligonucleotides against the lipid phosphatase SHIP2 improve muscle insulin sensitivity in a dietary rat model of the metabolic syndrome.
APOE4-VLDL inhibits the HDL-activated phosphatidylinositol 3-kinase/Akt Pathway via the phosphoinositol phosphatase SHIP2.
Can Alzheimer disease be a form of type 3 diabetes?
SHIP2: a "NEW" insulin pathway target for ageing research.
SHIPping out diabetes-Metformin, an old friend among new SHIP2 inhibitors.
Single nucleotide polymorphisms on SHIP2 is associated with Type 2 diabetes mellitus in Chinese Han population.
Microphthalmos
Evidence of a role of inositol polyphosphate 5-phosphatase INPP5E in cilia formation in zebrafish.
Movement Disorders
'Atypical' Parkinson's disease - genetic.
Genotype-Phenotype Relations for the Atypical Parkinsonism Genes: MDSGene Systematic Review.
Multiple Myeloma
Therapeutic Potential of SH2 Domain-Containing Inositol-5'-Phosphatase 1 (SHIP1) and SHIP2 Inhibition in Cancer.
Multiple Sclerosis
Evaluation of the Effect of Mannuronic Acid as a Novel NSAID With Immunosuppressive Properties on Expression of SOCS1, SOCS3, SHIP1, and TRAF6 Genes and Serum Levels of IL-6 and TNF-? in Patients With Multiple Sclerosis.
Multiple Sclerosis, Chronic Progressive
Evaluation of the Effect of Mannuronic Acid as a Novel NSAID With Immunosuppressive Properties on Expression of SOCS1, SOCS3, SHIP1, and TRAF6 Genes and Serum Levels of IL-6 and TNF-? in Patients With Multiple Sclerosis.
Muscle Hypotonia
All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding.
SYNJ1 gene associated with neonatal onset of neurodegenerative disorder and intractable seizure.
Muscular Diseases
Deficiency of MTMR14 impairs male fertility in Mus musculus.
Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways.
Phosphoinositide regulation of integrin trafficking required for muscle attachment and maintenance.
Muscular Dystrophies
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
Myeloproliferative Disorders
Inositol phosphatase SHIP1 is a primary target of miR-155.
Restoration of SHIP activity in a human leukemia cell line downregulates constitutively activated phosphatidylinositol 3-kinase/Akt/GSK-3beta signaling and leads to an increased transit time through the G1 phase of the cell cycle.
Myopathies, Structural, Congenital
"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy.
Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome.
Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy.
Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.
Myotubularin and PtdIns3P remodel the sarcoplasmic reticulum in muscle in vivo.
Phosphoinositide regulation of integrin trafficking required for muscle attachment and maintenance.
T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase.
Neoplasm Metastasis
5'-Inositol phosphatase SHIP2 recruits Mena to stabilize invadopodia for cancer cell invasion.
A novel oncogenic role of inositol phosphatase SHIP2 in ER-negative breast cancer stem cells: involvement of JNK/vimentin activation.
Circulating SHIP2 mRNA as a novel biomarker in the diagnosis and prognosis of gastric cancer.
Downregulation of SHIP2 by Hepatitis B Virus X Promotes the Metastasis and Chemoresistance of Hepatocellular Carcinoma through SKP2.
Ectopic Expression of Hematopoietic SHIP1 in Human Colorectal Cancer.
Elevated expression of SHIP2 correlates with poor prognosis in non-small cell lung cancer.
High SHIP2 expression indicates poor survival in colorectal cancer.
Inhibition of SHIP2 activity inhibits cell migration and could prevent metastasis in breast cancer cells.
Phosphoinositol phosphatase SHIP2 promotes cancer development and metastasis coupled with alterations in EGF receptor turnover.
PLEK2 mediates metastasis and vascular invasion via the ubiquitin-dependent degradation of SHIP2 in non-small cell lung cancer.
SHIP2 phosphoinositol phosphatase positively regulates EGFR-Akt pathway, CXCR4 expression, and cell migration in MDA-MB-231 breast cancer cells.
Synaptojanin 2 is a druggable mediator of metastasis and the gene is overexpressed and amplified in breast cancer.
The Inositol Polyphosphate 5-Phosphatase PIPP Regulates AKT1-Dependent Breast Cancer Growth and Metastasis.
Neoplasms
5'-Inositol phosphatase SHIP2 recruits Mena to stabilize invadopodia for cancer cell invasion.
A compartmentalized phosphoinositide signaling axis at cilia is regulated by INPP5E to maintain cilia and promote Sonic Hedgehog medulloblastoma.
A new layer of phosphoinositide-mediated allosteric regulation uncovered for SHIP2.
A novel oncogenic role of inositol phosphatase SHIP2 in ER-negative breast cancer stem cells: involvement of JNK/vimentin activation.
Abnormal elevated PTEN expression in the mouse antrum of a model of GIST Kit(K641E/K641E).
Amplified increase in signal transduction activity in cancer cells.
Analysis of the FLVR motif of SHIP1 and its importance for the protein stability of SH2 containing signaling proteins.
BRCA1 Promoter Methylation Is Linked to Defective Homologous Recombination Repair and Elevated miR-155 to Disrupt Myeloid Differentiation in Myeloid Malignancies.
CD and NMR conformational studies of a peptide encompassing the Mid Loop interface of Ship2-Sam.
Characterization of the substrate specificity of the inositol 5-phosphatase SHIP1.
Controlling the activity of PTEN by membrane potential.
Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association.
Descending-SHIP2-mediated radiosensitivity enhancement through PI3K/Akt signaling pathway in laryngeal squamous cell carcinoma.
Differential role of PTEN phosphatase in chemotactic growth cone guidance.
Downregulation of SHIP2 by Hepatitis B Virus X Promotes the Metastasis and Chemoresistance of Hepatocellular Carcinoma through SKP2.
Ectopic Expression of Hematopoietic SHIP1 in Human Colorectal Cancer.
Elevated expression of SHIP2 correlates with poor prognosis in non-small cell lung cancer.
Expression of inositol polyphosphate 4-phosphatase type II and the prognosis of oral squamous cell carcinoma.
Expression, Purification, Crystallisation and X-ray Crystallographic Analysis of a Truncated Form of Human Src Homology 2 Containing Inositol 5-Phosphatase 2.
Fibroblasts derived from patients with opsismodysplasia display SHIP2-specific cell migration and adhesion defects.
Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay.
Gene structure, expression profiling and mutation analysis of the tumour suppressor SHIP1 in Caucasian acute myeloid leukaemia.
Genetic profile of GNAQ-mutated blue melanocytic neoplasms reveals mutations in genes linked to genomic instability and the PI3K pathway.
Global phosphotyrosine proteomics identifies PKC? as a marker of responsiveness to Src inhibition in colorectal cancer.
High expression of inositol polyphosphate phosphatase-like 1 associates with unfavorable survival in hepatocellular carcinoma.
High expression of obesity-linked phosphatase SHIP2 in invasive breast cancer correlates with reduced disease-free survival.
High SHIP2 expression indicates poor survival in colorectal cancer.
ILT3 promotes tumor cell motility and angiogenesis in non-small cell lung cancer.
Inhibition of SHIP2 activity inhibits cell migration and could prevent metastasis in breast cancer cells.
Inhibitor and activator: dual functions for SHIP in immunity and cancer.
INPPL1 gene mutations in opsismodysplasia.
Leukemia-associated mutations in SHIP1 inhibit its enzymatic activity, interaction with the GM-CSF receptor and Grb2, and its ability to inactivate PI3K/AKT signaling.
Lipid phosphatase SHIP2 functions as oncogene in colorectal cancer by regulating PKB activation.
Living with lethal PIP3 levels: viability of flies lacking PTEN restored by a PH domain mutation in Akt/PKB.
Loss of PI(4,5)P2 5-Phosphatase A Contributes to Resistance of Human Melanoma Cells to RAF/MEK Inhibitors.
Modulation of epithelial neoplasia and lymphoid hyperplasia in PTEN+/- mice by the p85 regulatory subunits of phosphoinositide 3-kinase.
NMR studies of a heterotypic Sam-Sam domain association: the interaction between the lipid phosphatase Ship2 and the EphA2 receptor.
Nuclear accumulation of SHIP1 mutants derived from AML patients leads to increased proliferation of leukemic cells.
Nuclear PTEN-mediated growth suppression is independent of Akt down-regulation.
Onco-miR-155 targets SHIP1 to promote TNFalpha-dependent growth of B cell lymphomas.
Overexpression of miR-155 causes expansion, arrest in terminal differentiation and functional activation of mouse natural killer cells.
Pathogenicity and virulence of Japanese encephalitis virus: Neuroinflammation and neuronal cell damage.
Phosphatidylinositolphosphate phosphatase activities and cancer.
Phosphoinositide signaling disorders in human diseases.
Phosphoinositol phosphatase SHIP2 promotes cancer development and metastasis coupled with alterations in EGF receptor turnover.
Phosphorylated SHIP2 on Y1135 localizes at focal adhesions and at the mitotic spindle in cancer cell lines.
PI(4,5)P2 5-phosphatase A regulates PI3K/Akt signalling and has a tumour suppressive role in human melanoma.
Plasma proteome plus site-specific N-glycoprofiling for hepatobiliary carcinomas.
Preclinical Evaluation of a Novel SHIP1 Phosphatase Activator for Inhibition of PI3K Signaling in Malignant B Cells.
Prognostic value of elevated SHIP2 expression in laryngeal squamous cell carcinoma.
PTEN and Other PtdIns(3,4,5)P3 Lipid Phosphatases in Breast Cancer.
PTEN at the crossroad of metabolic diseases and cancer in the liver.
Regulation of PtdIns(3,4,5)P3/Akt signalling by inositol polyphosphate 5-phosphatases.
Regulation of synaptojanin 2 5'-phosphatase activity by Src.
Role of SHIP1 in cancer and mucosal inflammation.
Role of synaptojanin 2 in glioma cell migration and invasion.
SHIP, SHIP2, and PTEN activities are regulated in vivo by modulation of their protein levels: SHIP is up-regulated in macrophages and mast cells by lipopolysaccharide.
SHIP1 inhibition increases immunoregulatory capacity and triggers apoptosis of hematopoietic cancer cells.
SHIP1 inhibits cell growth, migration, and invasion in non?small cell lung cancer through the PI3K/AKT pathway.
SHIP1, but not an AML-derived SHIP1 mutant, suppresses myeloid leukemia growth in a xenotransplantation mouse model.
SHIP2 and its involvement in various diseases.
SHIP2 controls PtdIns(3,4,5)P(3) levels and PKB activity in response to oxidative stress.
SHIP2 phosphoinositol phosphatase positively regulates EGFR-Akt pathway, CXCR4 expression, and cell migration in MDA-MB-231 breast cancer cells.
SHIP2 signaling in normal and pathological situations: Its impact on cell proliferation.
Src homology 2 domain-containing inositol-5-phosphatase 1 (SHIP1) negatively regulates TLR4-mediated LPS response primarily through a phosphatase activity- and PI-3K-independent mechanism.
Suppression of SHIP2 contributes to tumorigenesis and proliferation of gastric cancer cells via activation of Akt.
Synaptojanin 2 is a druggable mediator of metastasis and the gene is overexpressed and amplified in breast cancer.
Targeting SHIP1 and SHIP2 in Cancer.
The role of SHIP in cytokine-induced signaling.
The Sam-Sam interaction between Ship2 and the EphA2 receptor: design and analysis of peptide inhibitors.
The tumor suppressor PTEN positively regulates macroautophagy by inhibiting the phosphatidylinositol 3-kinase/protein kinase B pathway.
The tumor suppressor SHIP1 colocalizes in nucleolar cavities with p53 and components of PML nuclear bodies.
Therapeutic Potential of SH2 Domain-Containing Inositol-5'-Phosphatase 1 (SHIP1) and SHIP2 Inhibition in Cancer.
Tumour-intrinsic resistance to immune checkpoint blockade.
Upregulation of SHIP2 participates in the development of breast cancer via promoting Wnt/?-catenin signaling.
Nephrolithiasis
Phenotype of Dent Disease in a Cohort of Indian Children.
Nervous System Diseases
AS1949490, an inhibitor of 5'-lipid phosphatase SHIP2, promotes protein kinase C-dependent stabilization of brain-derived neurotrophic factor mRNA in cultured cortical neurons.
Phosphorylation of Synaptojanin Differentially Regulates Endocytosis of Functionally Distinct Synaptic Vesicle Pools.
Neural Tube Defects
Down-Regulation of Inpp5e Associated With Abnormal Ciliogenesis During Embryonic Neurodevelopment Under Inositol Deficiency.
INPP5E regulates phosphoinositide-dependent cilia transition zone function.
Relationship Between INPP5E Gene Expression and Embryonic Neural Development in a Mouse Model of Neural Tube Defect.
Neuroblastoma
Differences in the metabolism of inositol and phosphoinositides by cultured cells of neuronal and glial origin.
Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes.
Neurodegenerative Diseases
Combining data integration and molecular dynamics for target identification in ?-Synuclein-aggregating neurodegenerative diseases: Structural insights on Synaptojanin-1 (Synj1).
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.
Other proteins involved in Parkinson's disease and related disorders.
SHIP2 and its involvement in various diseases.
SYNJ1 gene associated with neonatal onset of neurodegenerative disorder and intractable seizure.
Obesity
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.
A small-molecule inhibitor of SHIP1 reverses age- and diet-associated obesity and metabolic syndrome.
A Synthetic Polyphosphoinositide Headgroup Surrogate in Complex with SHIP2 Provides a Rationale for Drug Discovery.
Absence of the lipid phosphatase SHIP2 confers resistance to dietary obesity.
APOE4-VLDL inhibits the HDL-activated phosphatidylinositol 3-kinase/Akt Pathway via the phosphoinositol phosphatase SHIP2.
High expression of obesity-linked phosphatase SHIP2 in invasive breast cancer correlates with reduced disease-free survival.
Inhibition of 72k-5ptase improves insulin signal transduction in diet-induced obesity.
INPPL1 gene mutations in opsismodysplasia.
Lipid phosphatases as a possible therapeutic target in cases of type 2 diabetes and obesity.
Mapping adipose and muscle tissue expression quantitative trait loci in African Americans to identify genes for type 2 diabetes and obesity.
Novel Insights Into Monogenic Obesity Syndrome Due to INPP5E Gene Variant: A Case Report of a Female Patient.
Phosphoinositide-specific inositol polyphosphate 5-phosphatase IV inhibits inositide trisphosphate accumulation in hypothalamus and regulates food intake and body weight.
SH2-containing 5'-inositol phosphatase, SHIP2, regulates cytoskeleton organization and ligand-dependent down-regulation of the epidermal growth factor receptor.
SHIP2, a factor associated with diet-induced obesity and insulin sensitivity, attenuates FGF signaling in vivo.
The SH2 domain containing inositol polyphosphate 5-phosphatase-2: SHIP2.
Oculocerebrorenal Syndrome
A novel and de novo deletion in the OCRL1 gene associated with a severe form of Lowe syndrome.
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome.
A novel OCRL1 gene mutation in a Turkish child with Lowe syndrome.
A Novel OCRL1 Mutation in a Patient with the Mild Phenotype of Lowe Syndrome.
A Novel Pathogenic DNA Variation in the OCRL1 Gene in Lowe Syndrome.
A PH domain within OCRL bridges clathrin-mediated membrane trafficking to phosphoinositide metabolism.
A Premature Termination Mutation in a Patient with Lowe Syndrome without Congenital Cataracts: Dropping the "O" in OCRL.
A presynaptic inositol-5-phosphatase.
A role for OCRL in glomerular function and disease.
A role of OCRL in clathrin-coated pit dynamics and uncoating revealed by studies of Lowe syndrome cells.
A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway.
A structural basis for Lowe syndrome caused by mutations in the Rab-binding domain of OCRL1.
All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding.
Amelioration of hypophosphatemic rickets and osteoporosis with pamidronate and growth hormone in lowe syndrome.
Autophagosome-lysosome fusion triggers a lysosomal response mediated by TLR9 and controlled by OCRL.
Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination.
Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate.
Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.
Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of Lowe.
Complete oculocerebrorenal phenotype of Lowe syndrome in a female patient with half reduction of inositol polyphosphate 5-phosphatase.
Crystal structure of the Rab binding domain of OCRL1 in complex with Rab8 and functional implications of the OCRL1/Rab8 module for Lowe syndrome.
Dent Disease with mutations in OCRL1.
Dent's disease.
Dent's disease: clinical features and molecular basis.
Development of a multiplex ligation-dependent probe amplification (MLPA) assay for quantification of the OCRL1 gene.
Differential clathrin binding and subcellular localization of OCRL1 splice isoforms.
dOCRL maintains immune cell quiescence by regulating endosomal traffic.
Establishment of patient-specific induced pluripotent stem cell line SDUBMSi009-A from a patient with X-linked Lowe syndrome.
First report of prenatal biochemical diagnosis of Lowe syndrome.
From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.
Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome.
Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice.
Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypes.
Identification and characterization of golgin-84, a novel Golgi integral membrane protein with a cytoplasmic coiled-coil domain.
Identification of a novel deletion of the entire OCRL1 gene detected by FISH analysis in a family with Lowe syndrome.
Identification of OCRL1 mutations in two Taiwanese Lowe syndrome patients.
Identification of two novel mutations in the OCRL1 gene in Japanese families with Lowe syndrome.
Identification of two novel mutations in the OCRL1 gene in two Chinese families with Lowe syndrome.
Impaired neural development in a zebrafish model for Lowe syndrome.
Kidney Tubular Ablation of
Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations.
Loss of OCRL increases ciliary PI(4,5)P2 in oculocerebrorenal syndrome of Lowe.
Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatase.
Lowe syndrome protein OCRL1 interacts with clathrin and regulates protein trafficking between endosomes and the trans-Golgi network.
Lowe syndrome protein OCRL1 interacts with Rac GTPase in the trans-Golgi network.
Lowe syndrome protein Ocrl1 is translocated to membrane ruffles upon Rac GTPase activation: a new perspective on Lowe syndrome pathophysiology.
Lowe Syndrome protein OCRL1 supports maturation of polarized epithelial cells.
Lowe syndrome, a deficiency of phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus.
Lowe syndrome-linked endocytic adaptors direct membrane cycling kinetics with OCRL in Dictyostelium discoideum.
Lowe syndrome: Between primary cilia assembly and Rac1-mediated membrane remodeling.
Magnetic resonance imaging, magnetic resonance spectroscopy, and facial dysmorphism in a case of Lowe syndrome with novel OCRL1 gene mutation.
Membrane targeting and activation of the Lowe syndrome protein OCRL1 by rab GTPases.
Modeling the neuropsychiatric manifestations of Lowe syndrome using induced pluripotent stem cells: defective F-actin polymerization and WAVE-1 expression in neuronal cells.
Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients.
Mutations in OCRL1 gene in Indian children with Lowe syndrome.
Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations.
Novel mutation of OCRL1 in Lowe syndrome with multiple epidermal cysts.
Novel mutation of OCRL1 in Lowe syndrome.
Novel OCRL1 gene mutations in six Chinese families with Lowe syndrome.
Novel OCRL1 mutations in patients with the phenotype of Dent disease.
OCRL Deficiency Impairs Endolysosomal Function in a Humanized Mouse Model for Lowe Syndrome and Dent Disease.
OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells.
OCRL1 engages with the F-BAR protein pacsin 2 to promote biogenesis of membrane-trafficking intermediates.
OCRL1 function in renal epithelial membrane traffic.
OCRL1 Modulates Cilia Length in Renal Epithelial Cells.
OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling.
OCRL1 Mutations in Dent 2 Patients Suggest a Mechanism for Phenotypic Variability.
Ocrl1, a PtdIns(4,5)P(2) 5-phosphatase, is localized to the trans-Golgi network of fibroblasts and epithelial cells.
Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis.
Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes.
Phosphatidylinositol 4-kinases and PI4P metabolism in the nervous system: roles in psychiatric and neurological diseases.
Phosphatidylinositol signalling reactions.
Phosphoinositide signaling disorders in human diseases.
Physical mapping and genomic structure of the Lowe syndrome gene OCRL1.
Prenatal diagnosis of Lowe syndrome by OCRL1 messenger RNA analysis.
Prevalence of Congenital Ocular Anomalies among Children with Genetic Disorders: An Egyptian Study.
Primary cilia signaling mediates intraocular pressure sensation.
PTEN reduces endosomal PtdIns(4,5)P2 in a phosphatase-independent manner via a PLC pathway.
Recognition of the F&H motif by the Lowe syndrome protein OCRL.
Regulation of phagocytosis in Dictyostelium by the inositol 5-phosphatase OCRL homolog Dd5P4.
Renal manifestations of Dent disease and Lowe syndrome.
Role of Ocrl1 in primary cilia assembly.
Role of oculocerebrorenal syndrome of Lowe (OCRL) protein in megakaryocyte maturation, platelet production and functions: a study in patients with Lowe syndrome.
Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome.
Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome.
Structure and function of the Lowe syndrome protein OCRL1.
Targeting of the type II inositol polyphosphate 5-phosphatase INPP5B to the early secretory pathway.
The Cellular and Physiological Functions of the Lowe Syndrome Protein OCRL1.
The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization.
The effect of missense mutations in the RhoGAP-homology domain on ocrl1 function.
The enemy of my enemy: PTEN and PLCXD collude to fight endosomal PtdIns(4,5)P2.
The inositol 5-phosphatase dOCRL controls PI(4,5)P2 homeostasis and is necessary for cytokinesis.
The inositol polyphosphate 5-phosphatase Ocrl associates with endosomes that are partially coated with clathrin.
The Lowe syndrome protein OCRL1 is involved in primary cilia assembly.
The Lowe syndrome protein OCRL1 is required for endocytosis in the zebrafish pronephric tubule.
The oculocerebrorenal syndrome of Lowe: an update.
The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway.
The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase.
The unexpected role of Drosophila OCRL during cytokinesis.
Transcriptome analysis of neural progenitor cells derived from Lowe syndrome induced pluripotent stem cells: identification of candidate genes for the neurodevelopmental and eye manifestations.
Two new missense mutations in the protein interaction ASH domain of OCRL1 identified in patients with Lowe syndrome.
Type II phosphoinositide 5-phosphatases have unique sensitivities towards fatty acid composition and head group phosphorylation.
[Clinical findings in a patient with Lowe syndrome and a splice site mutation in the OCRL1 gene]
Osteoarthritis
Down-regulation of Rac GTPase-activating protein OCRL1 causes aberrant activation of Rac1 in osteoarthritis development.
Osteoporosis
SHIP1 negatively regulates proliferation of osteoclast precursors via Akt-dependent alterations in D-type cyclins and p27.
Osteosarcoma
Retraction.
ZIC2 promotes viability and invasion of human osteosarcoma cells by suppressing SHIP2 expression and activating PI3K/AKT pathways.
Paralysis
Non-motor symptoms and cardiac innervation in SYNJ1-related parkinsonism.
Parkinson Disease
'Atypical' Parkinson's disease - genetic.
A network view on Parkinson's disease.
A novel homozygous SYNJ1 mutation in two siblings with typical Parkinson's disease.
A Novel SYNJ1 Mutation in a Tunisian Family with Juvenile Parkinson's Disease Associated with Epilepsy.
A structure of substrate-bound Synaptojanin1 provides new insights in its mechanism and the effect of disease mutations.
Absence of Sac2/INPP5F enhances the phenotype of a Parkinson's disease mutation of synaptojanin 1.
Arf6 and the 5'phosphatase of Synaptojanin 1 regulate autophagy in cone photoreceptors.
Arf6 and the 5'phosphatase of synaptojanin 1 regulate autophagy in cone photoreceptors.
Asparagine endopeptidase cleaves synaptojanin 1 and triggers synaptic dysfunction in Parkinson's disease.
Clonazepam improves the symptoms of two siblings with novel variants in the SYNJ1 gene.
Genes Implicated in Familial Parkinson's Disease Provide a Dual Picture of Nigral Dopaminergic Neurodegeneration with Mitochondria Taking Center Stage.
Mutational analysis of SYNJ1 gene (PARK20) in Parkinson's disease in a Taiwanese population.
Presynaptic endocytic factors in autophagy and neurodegeneration.
Synaptojanin 1 mutation in Parkinson's disease brings further insight into the neuropathological mechanisms.
SYNJ1 gene associated with neonatal onset of neurodegenerative disorder and intractable seizure.
Synj1 haploinsufficiency causes dopamine neuron vulnerability and alpha-synuclein accumulation in mice.
The recurrent mutation Arg258Gln in SYNJ1 (PARK20) is not a common cause of Parkinson's disease.
The SAC1 domain in synaptojanin is required for autophagosome maturation at presynaptic terminals.
Parkinsonian Disorders
'Atypical' Parkinson's disease - genetic.
Alteration of endosomal trafficking is associated with early-onset parkinsonism caused by SYNJ1 mutations.
Co-occurring SYNJ1 and SHANK3 variants in a girl with intellectual disability, early-onset parkinsonism and catatonic episodes.
Genetics of Parkinson's disease--state of the art, 2013.
Genotype-Phenotype Relations for the Atypical Parkinsonism Genes: MDSGene Systematic Review.
Identification of a novel homozygous mutation Arg459Pro in SYNJ1 gene of an Indian family with autosomal recessive juvenile Parkinsonism.
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.
Mutation in the SYNJ1 Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism.
Mutational analysis of SYNJ1 gene (PARK20) in Parkinson's disease in a Taiwanese population.
Non-motor symptoms and cardiac innervation in SYNJ1-related parkinsonism.
Olfaction in Homozygous and Heterozygous SYNJ1 Arg258Gln Mutation Carriers.
PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family.
PERK-Mediated Unfolded Protein Response Activation and Oxidative Stress in PARK20 Fibroblasts.
Synaptojanin1 deficiency upregulates basal autophagosome formation in astrocytes.
Synj1 haploinsufficiency causes dopamine neuron vulnerability and alpha-synuclein accumulation in mice.
The Sac1 Domain of SYNJ1 Identified Mutated in a Family with Early-Onset Progressive Parkinsonism with Generalized Seizures.
Pericardial Effusion
Evidence of a role of inositol polyphosphate 5-phosphatase INPP5E in cilia formation in zebrafish.
Perinatal Death
The lipid phosphatase SHIP2 controls insulin sensitivity.
Peripheral Nervous System Diseases
Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.
phosphoinositide 5-phosphatase deficiency
Abnormal bradykinin signalling in fibroblasts deficient in the PIP(2) 5-phosphatase, ocrl1.
Differential Lyn-dependence of the SHIP1-deficient mast cell phenotype.
Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice.
Inpp5e increases the Rab5 association and phosphatidylinositol 3-phosphate accumulation at the phagosome through an interaction with Rab20.
Loss of PI(4,5)P2 5-Phosphatase A Contributes to Resistance of Human Melanoma Cells to RAF/MEK Inhibitors.
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.
Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatase.
SHIP1 Deficiency in Inflammatory Bowel Disease Is Associated With Severe Crohn's Disease and Peripheral T Cell Reduction.
SHIP1 Intrinsically Regulates NK Cell Signaling and Education, Resulting in Tolerance of an MHC Class I-Mismatched Bone Marrow Graft in Mice.
SHIP1-Expressing Mesenchymal Stem Cells Regulate Hematopoietic Stem Cell Homeostasis and Lineage Commitment During Aging.
SHIPi Enhances Autologous and Allogeneic Hematolymphoid Stem Cell Transplantation.
Synaptojanin1 deficiency upregulates basal autophagosome formation in astrocytes.
Synj1 haploinsufficiency causes dopamine neuron vulnerability and alpha-synuclein accumulation in mice.
The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization.
The Lowe syndrome protein OCRL1 is involved in primary cilia assembly.
The role of Arabidopsis 5PTase13 in root gravitropism through modulation of vesicle trafficking.
Pneumonia
Characterization of AQX-1125, a small-molecule SHIP1 activator: Part 2. Efficacy studies in allergic and pulmonary inflammation models in vivo.
Impaired T-cell survival promotes mucosal inflammatory disease in SHIP1-deficient mice.
Polycystic Kidney Diseases
?-catenin ablation exacerbates polycystic kidney disease progression.
Apical PtdIns(4,5)P2 is required for ciliogenesis and suppression of polycystic kidney disease.
Inpp5e suppresses polycystic kidney disease via inhibition of PI3K/Akt-dependent mTORC1 signaling.
Polydactyly
Evidence of a role of inositol polyphosphate 5-phosphatase INPP5E in cilia formation in zebrafish.
INPP5E regulates phosphoinositide-dependent cilia transition zone function.
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.
Polymicrogyria
Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Inactivation of SHIP1 in T-cell acute lymphoblastic leukemia due to mutation and extensive alternative splicing.
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Inactivation of SHIP1 in T-cell acute lymphoblastic leukemia due to mutation and extensive alternative splicing.
Prostatic Neoplasms
Antiapoptotic signaling in LNCaP prostate cancer cells: a survival signaling pathway independent of phosphatidylinositol 3'-kinase and Akt/protein kinase B.
Multiple defects in negative regulation of the PKB/Akt pathway sensitise human cancer cells to the antiproliferative effect of non-steroidal anti-inflammatory drugs.
Proteinuria
Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation.
Lipid phosphatase SHIP2 downregulates insulin signalling in podocytes.
Phenotype of Dent Disease in a Cohort of Indian Children.
Role of dynamin, synaptojanin, and endophilin in podocyte foot processes.
The Lowe syndrome protein OCRL1 is required for endocytosis in the zebrafish pronephric tubule.
Pulmonary Fibrosis
AQX-1125, small molecule SHIP1 activator inhibits bleomycin-induced pulmonary fibrosis.
Renal Insufficiency
?-catenin ablation exacerbates polycystic kidney disease progression.
Inpp5e suppresses polycystic kidney disease via inhibition of PI3K/Akt-dependent mTORC1 signaling.
Lowe Syndrome protein OCRL1 supports maturation of polarized epithelial cells.
Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis.
Phenotype of Dent Disease in a Cohort of Indian Children.
Retinal Dystrophies
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.
Macular staphyloma in patients affected by Joubert syndrome with retinal dystrophy: a new finding detected by SD-OCT.
Retinitis Pigmentosa
Evidence of a role of inositol polyphosphate 5-phosphatase INPP5E in cilia formation in zebrafish.
Sarcoma
SHIP1 inhibits cell growth, migration, and invasion in non?small cell lung cancer through the PI3K/AKT pathway.
Seizures
A Novel SYNJ1 Mutation in a Tunisian Family with Juvenile Parkinson's Disease Associated with Epilepsy.
Clonazepam improves the symptoms of two siblings with novel variants in the SYNJ1 gene.
Impaired neural development in a zebrafish model for Lowe syndrome.
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.
Mutational analysis of SYNJ1 gene (PARK20) in Parkinson's disease in a Taiwanese population.
Non-motor symptoms and cardiac innervation in SYNJ1-related parkinsonism.
Synaptojanin1 deficiency upregulates basal autophagosome formation in astrocytes.
SYNJ1 gene associated with neonatal onset of neurodegenerative disorder and intractable seizure.
The Sac1 Domain of SYNJ1 Identified Mutated in a Family with Early-Onset Progressive Parkinsonism with Generalized Seizures.
Spasms, Infantile
SYNJ1 gene associated with neonatal onset of neurodegenerative disorder and intractable seizure.
Spondylitis, Ankylosing
RAB5C, SYNJ1, and RNF19B promote male ankylosing spondylitis by regulating immune cell infiltration.
Squamous Cell Carcinoma of Head and Neck
Prognostic value of elevated SHIP2 expression in laryngeal squamous cell carcinoma.
Starvation
Interaction of the WD40 domain of a myoinositol polyphosphate 5-phosphatase with SnRK1 links inositol, sugar, and stress signaling.
Stomach Neoplasms
Circulating SHIP2 mRNA as a novel biomarker in the diagnosis and prognosis of gastric cancer.
Decreased Sp1 Expression Mediates Downregulation of SHIP2 in Gastric Cancer Cells.
IQGAP2 Inhibits Migration and Invasion of Gastric Cancer Cells via Elevating SHIP2 Phosphatase Activity.
Suppression of SHIP2 contributes to tumorigenesis and proliferation of gastric cancer cells via activation of Akt.
Upregulation of SHIP2 participates in the development of breast cancer via promoting Wnt/?-catenin signaling.
Tauopathies
Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology.
SYNJ1 gene associated with neonatal onset of neurodegenerative disorder and intractable seizure.
Thrombosis
Class I PI 3-kinases signaling in platelet activation and thrombosis: PDK1/Akt/GSK3 axis and impact of PTEN and SHIP1.
Deficiency of Src homology 2 domain-containing inositol 5-phosphatase 1 affects platelet responses and thrombus growth.
Tuberculosis
A new family of phosphoinositide phosphatases in microorganisms: identification and biochemical analysis.
Uterine Cervical Neoplasms
SHIP2 inhibition alters redox-induced PI3K/AKT and MAP kinase pathways via PTEN over-activation in cervical cancer cells.
Vaccinia
The host phosphoinositide 5-phosphatase SHIP2 regulates dissemination of vaccinia virus.
Virus Diseases
Induction of an Alternative mRNA 5' Leader Enhances Translation of the Ciliopathy Gene Inpp5e and Resistance to Oncolytic Virus Infection.
Wiskott-Aldrich Syndrome
Impairing actin filament or syndapin functions promotes accumulation of clathrin-coated vesicles at the apical plasma membrane of acinar epithelial cells.
SNX18 shares a redundant role with SNX9 and modulates endocytic trafficking at the plasma membrane.
Syndapin isoforms participate in receptor-mediated endocytosis and actin organization.