Disease on EC 3.4.24.84 - Ste24 endopeptidase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Acanthosis Nigricans
Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.
Acro-Osteolysis
A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features.
A novel homozygous LMNA mutation (p.Met540Ile) causes mandibuloacral dysplasia type A.
A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism.
Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.
Alopecia
Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging.
Atherosclerosis
LMNA mutations resulting in lipodystrophy and HIV protease inhibitors trigger vascular smooth muscle cell senescence and calcification: Role of ZMPSTE24 downregulation.
Carcinogenesis
Mutational and expressional alterations of ZMPSTE24, DNA damage response-related gene, in gastric and colorectal cancers.
Carcinoma
Identification and chromosomal location of two human genes encoding enzymes potentially involved in proteolytic maturation of farnesylated proteins.
Cardiomyopathies
A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy.
Cardiomyopathy, Dilated
A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy.
Colorectal Neoplasms
Mutational and expressional alterations of ZMPSTE24, DNA damage response-related gene, in gastric and colorectal cancers.
Cowpox
ZMPSTE24 defends against influenza and other pathogenic viruses.
ZMPSTE24 Is Downstream Effector of Interferon-Induced Transmembrane Antiviral Activity.
Dental Caries
Genetic Association of MPPED2 and ACTN2 with Dental Caries.
Genetic Diseases, Inborn
A novel homozygous LMNA mutation (p.Met540Ile) causes mandibuloacral dysplasia type A.
Glomerulosclerosis, Focal Segmental
Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency.
Hearing Loss, Sensorineural
A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism.
Infections
ZMPSTE24 Is Downstream Effector of Interferon-Induced Transmembrane Antiviral Activity.
Influenza, Human
ZMPSTE24 defends against influenza and other pathogenic viruses.
ZMPSTE24 Is Downstream Effector of Interferon-Induced Transmembrane Antiviral Activity.
Joint Diseases
A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features.
Kidney Failure, Chronic
Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency.
Leukemia
ZMPSTE24 defends against influenza and other pathogenic viruses.
ZMPSTE24 Is Downstream Effector of Interferon-Induced Transmembrane Antiviral Activity.
Lipodystrophy
A novel homozygous LMNA mutation (p.Met540Ile) causes mandibuloacral dysplasia type A.
A Potent HIV Protease Inhibitor, Darunavir, Does Not Inhibit ZMPSTE24 or Lead to an Accumulation of Farnesyl-prelamin A in Cells.
Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging.
Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.
Failure of ossification of the occipital bone in mandibuloacral dysplasia type B.
Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies.
HIV-protease inhibitors block the enzymatic activity of purified Ste24p.
Lipodystrophies: Genetic and Acquired Body Fat Disorders.
LMNA missense mutations causing familial partial lipodystrophy do not lead to an accumulation of prelamin A.
LMNA mutations resulting in lipodystrophy and HIV protease inhibitors trigger vascular smooth muscle cell senescence and calcification: Role of ZMPSTE24 downregulation.
Proteomic profiling of adipose tissue from Zmpste24-/- mice, a model of lipodystrophy and premature ageing, reveals major changes in mitochondrial function and vimentin processing.
[Primary lipodystrophies]
Lipodystrophy, Congenital Generalized
Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China.
Liver Cirrhosis, Biliary
LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome.
Lung Injury
Preventing loss of mechanosensation by the nuclear membranes of alveolar cells reduces lung injury in mice during mechanical ventilation.
Lymphoma
Identification and chromosomal location of two human genes encoding enzymes potentially involved in proteolytic maturation of farnesylated proteins.
Metabolic Syndrome
A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy.
Micrognathism
Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.
Muscle Weakness
Skeletal muscle contractile function and neuromuscular performance in Zmpste24 (-/-) mice, a murine model of human progeria.
Zmpste24 deficiency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defect.
Muscular Atrophy
Skeletal muscle contractile function and neuromuscular performance in Zmpste24 (-/-) mice, a murine model of human progeria.
Muscular Diseases
Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.
Neoplasms
Genetic variation in healthy oldest-old.
Mutational and expressional alterations of ZMPSTE24, DNA damage response-related gene, in gastric and colorectal cancers.
Prelamin A causes progeria through cell-extrinsic mechanisms and prevents cancer invasion.
Obesity, Abdominal
A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy.
Osteoporosis
Accelerated features of age-related bone loss in zmpste24 metalloproteinase-deficient mice.
Application of micro-CT assessment of 3-D bone microstructure in preclinical and clinical studies.
Perinatal Death
A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS.
Premature Birth
Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.
Progeria
A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy.
A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS.
A humanized yeast system to analyze cleavage of prelamin A by ZMPSTE24.
Abnormal nuclear morphology is independent of longevity in a zmpste24-deficient fish model of Hutchinson-Gilford progeria syndrome (HGPS).
Biogenesis of the Saccharomyces cerevisiae Pheromone a-Factor, from Yeast Mating to Human Disease.
Cell autonomous and systemic factors in progeria development.
Depleting the methyltransferase Suv39h1 improves DNA repair and extends lifespan in a progeria mouse model.
Different prelamin A forms accumulate in human fibroblasts: a study in experimental models and progeria.
Dysfunction of iPSC-derived endothelial cells in human Hutchinson-Gilford progeria syndrome.
Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome.
Genetic variation in healthy oldest-old.
Genomic Instability and DNA Damage Responses in Progeria Arising from Defective Maturation of Prelamin A.
Histone H4 lysine 16 hypoacetylation is associated with defective DNA repair and premature senescence in Zmpste24-deficient mice.
Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity.
Hutchinson-Gilford progeria syndrome.
Microcephalia with mandibular and dental dysplasia in adult Zmpste24-deficient mice.
Micromanaging aging with miRNAs: New messages from the nuclear envelope.
miR?342?5p promotes Zmpste24?deficient mouse embryonic fibroblasts proliferation by suppressing GAS2.
Next-Generation Sequencing and Quantitative Proteomics of Hutchinson-Gilford progeria syndrome-derived cells point to a role of nucleotide metabolism in premature aging.
Nuclear envelope alterations generate an aging-like epigenetic pattern in mice deficient in Zmpste24 metalloprotease.
Prelamin A acts to accelerate smooth muscle cell senescence and is a novel biomarker of human vascular aging.
Prelamin A causes progeria through cell-extrinsic mechanisms and prevents cancer invasion.
Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C.
Requirements for Efficient Proteolytic Cleavage of Prelamin A by ZMPSTE24.
Skeletal muscle contractile function and neuromuscular performance in Zmpste24 (-/-) mice, a murine model of human progeria.
The structural basis of ZMPSTE24-dependent laminopathies.
ZMPSTE24 missense mutations that cause progeroid diseases decrease prelamin A cleavage activity and/or protein stability.
Pulmonary Fibrosis
Accelerated aging induced by deficiency of Zmpste24 protects old mice to develop bleomycin-induced pulmonary fibrosis.
Scleroderma, Systemic
LMNA, ZMPSTE24, and LBR are not mutated in scleroderma.
ste24 endopeptidase deficiency
A Potent HIV Protease Inhibitor, Darunavir, Does Not Inhibit ZMPSTE24 or Lead to an Accumulation of Farnesyl-prelamin A in Cells.
Accelerated ageing in mice deficient in Zmpste24 protease is linked to p53 signalling activation.
Application of micro-CT assessment of 3-D bone microstructure in preclinical and clinical studies.
Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency.
Heterozygosity for Lmna deficiency eliminates the progeria-like phenotypes in Zmpste24-deficient mice.
Histone H4 lysine 16 hypoacetylation is associated with defective DNA repair and premature senescence in Zmpste24-deficient mice.
HIV protease inhibitors block the zinc metalloproteinase ZMPSTE24 and lead to an accumulation of prelamin A in cells.
Nuclear envelope defects cause stem cell dysfunction in premature-aging mice.
Phenotypic heterogeneity of ZMPSTE24 deficiency.
Progeroid syndrome patients with ZMPSTE24 deficiency could benefit when treated with rapamycin and dimethylsulfoxide.
Proteomic profiling of adipose tissue from Zmpste24-/- mice, a model of lipodystrophy and premature ageing, reveals major changes in mitochondrial function and vimentin processing.
Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings.
Zmpste24 deficiency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defect.
Vaccinia
ZMPSTE24 defends against influenza and other pathogenic viruses.
ZMPSTE24 Is Downstream Effector of Interferon-Induced Transmembrane Antiviral Activity.
Vesicular Stomatitis
ZMPSTE24 defends against influenza and other pathogenic viruses.
ZMPSTE24 Is Downstream Effector of Interferon-Induced Transmembrane Antiviral Activity.