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Disease on EC 1.14.18.6 - 4-hydroxysphinganine ceramide fatty acyl 2-hydroxylase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
4-hydroxysphinganine ceramide fatty acyl 2-hydroxylase deficiency
Central nervous system dysfunction in a mouse model of FA2H deficiency.
Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration.
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
Fatty acid 2-hydroxylase deficiency: Clinical features and brain iron accumulation.
Adenocarcinoma
High FA2H and UGT8 transcript levels predict hydroxylated hexosylceramide accumulation in lung adenocarcinoma.
Adenocarcinoma of Lung
High FA2H and UGT8 transcript levels predict hydroxylated hexosylceramide accumulation in lung adenocarcinoma.
Alopecia
Normal fur development and sebum production depends on Fatty Acid 2-hydroxylase expression in sebaceous glands.
Breast Neoplasms
?(9)-THC modulation of fatty acid 2-hydroxylase (FA2H) gene expression: possible involvement of induced levels of PPAR? in MDA-MB-231 breast cancer cells.
?9-Tetrahydrocannabinol upregulates fatty acid 2-hydroxylase (FA2H) via PPAR? induction: A possible evidence for the cancellation of PPAR?/?-mediated inhibition of PPAR? in MDA-MB-231?cells.
FA2H Exhibits Tumor Suppressive Roles on Breast Cancers via Cancer Stemness Control.
Fatty acid 2-hydroxylase (FA2H) as a stimulatory molecule responsible for breast cancer cell migration.
Induction of the fatty acid 2-hydroxylase (FA2H) gene by ?(9)-tetrahydrocannabinol in human breast cancer cells.
Carcinoma, Hepatocellular
Elevated expression of A-Raf and FA2H in hepatocellular carcinoma is associated with lipid metabolism dysregulation and cancer progression.
Carcinoma, Neuroendocrine
High FA2H and UGT8 transcript levels predict hydroxylated hexosylceramide accumulation in lung adenocarcinoma.
Cholera
Fatty acid 2-hydroxylase mediates diffusional mobility of Raft-associated lipids, GLUT4 level, and lipogenesis in 3T3-L1 adipocytes.
Colorectal Neoplasms
2-Hydroxylation of Fatty Acids Represses Colorectal Tumorigenesis and Metastasis via the YAP Transcriptional Axis.
Congenital Abnormalities
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
Demyelinating Diseases
2'-Hydroxy ceramide in membrane homeostasis and cell signaling.
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
Dystonia
FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype.
Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.
Novel Mutations in FA2H-Associated Neurodegeneration: An Underrecognized Condition?
Genetic Diseases, Inborn
Iron dysregulation in movement disorders.
Hereditary Sensory and Motor Neuropathy
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
Insulin Resistance
Hepatocyte-derived exosomes from early onset obese mice promote insulin sensitivity through miR-3075.
Leukoencephalopathies
Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.
Lung Neoplasms
High FA2H and UGT8 transcript levels predict hydroxylated hexosylceramide accumulation in lung adenocarcinoma.
Movement Disorders
The Interaction of Genetic Mutations in PARK2 and FA2H Causes a Novel Phenotype in a Case of Childhood-Onset Movement Disorder.
Neoplasm Metastasis
Fatty acid 2-hydroxylation inhibits tumor growth and increases sensitivity to cisplatin in gastric cancer.
Neoplasms
2-Hydroxylation of Fatty Acids Represses Colorectal Tumorigenesis and Metastasis via the YAP Transcriptional Axis.
Elevated expression of A-Raf and FA2H in hepatocellular carcinoma is associated with lipid metabolism dysregulation and cancer progression.
FA2H Exhibits Tumor Suppressive Roles on Breast Cancers via Cancer Stemness Control.
Fatty acid 2-hydroxylase (FA2H) as a stimulatory molecule responsible for breast cancer cell migration.
Fatty acid 2-hydroxylation inhibits tumor growth and increases sensitivity to cisplatin in gastric cancer.
High FA2H and UGT8 transcript levels predict hydroxylated hexosylceramide accumulation in lung adenocarcinoma.
Levels of SCS7/FA2H-mediated fatty acid 2-hydroxylation determine the sensitivity of cells to antitumor PM02734.
Overexpression of Fatty Acid 2-Hydroxylase is Associated with an Increased Sensitivity to Cisplatin by Ovarian Cancer and Better Prognoses.
Neurilemmoma
2'-Hydroxy ceramide in membrane homeostasis and cell signaling.
Fatty acid 2-hydroxylase regulates cAMP-induced cell cycle exit in D6P2T Schwannoma cells.
Neuroaxonal Dystrophies
Excess iron harms the brain: the syndromes of neurodegeneration with brain iron accumulation (NBIA).
Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA).
Neurodegenerative Diseases
2-hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase.
FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype.
Neuronal Ceroid-Lipofuscinoses
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
Ovarian Neoplasms
Overexpression of Fatty Acid 2-Hydroxylase is Associated with an Increased Sensitivity to Cisplatin by Ovarian Cancer and Better Prognoses.
Pantothenate Kinase-Associated Neurodegeneration
Excess iron harms the brain: the syndromes of neurodegeneration with brain iron accumulation (NBIA).
Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA).
Paraparesis, Spastic
Atypical adult onset complicated spastic paraparesis with thin corpus callosum in two patients carrying a novel FA2H mutation.
EX-HOM (EXome HOMozygosity): A Proof of Principle.
FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype.
Fatty acid 2-Hydroxylation in mammalian sphingolipid biology.
Mutations in FA2H in three Arab families with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis.
Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.
The Crystal Structure of an Integral Membrane Fatty Acid ?-Hydroxylase.
Paraplegia
Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient.
Central nervous system dysfunction in a mouse model of FA2H deficiency.
Decreased turnover of the CNS myelin protein Opalin in a mouse model of hereditary spastic paraplegia 35.
Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration.
Exome sequencing of a Pakistani family with spastic paraplegia identified an 18 bp deletion in the cytochrome B5 domain of FA2H.
FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype.
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation.
Novel biallelic FA2H mutations in a Japanese boy with fatty acid hydroxylase-associated neurodegeneration.
Novel FA2H mutation in a girl with familial spastic paraplegia.
Novel Mutations in FA2H-Associated Neurodegeneration: An Underrecognized Condition?
Prostatic Neoplasms
Identification of a Robust Five-Gene Risk Model in Prostate Cancer: A Robust Likelihood-Based Survival Analysis.
Spastic Paraplegia, Hereditary
A p.Arg499His Mutation in SPAST Is Associated with Infantile Onset Ascending Spastic Paralysis Complicated with Dysarthria and Anarthria.
A rare family with Hereditary Spastic Paraplegia Type 35 due to novel FA2H mutations: a case report with literature review.
Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient.
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).
Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments.
Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation.
Hereditary spastic paraplegia type 35 in a family from Mali.
Hereditary Spastic Paraplegia Type 35 with a Novel Mutation in Fatty Acid 2-Hydroxylase Gene and Literature Review of the Clinical Features.
Identification of progesterone receptor membrane component-1 as an interaction partner and possible regulator of fatty acid 2-hydroxylase.
Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).
Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia.
SPG35 contributes to the second common subtype of AR-HSP in China: frequency analysis and functional characterization of FA2H gene mutations.
The Interaction of Genetic Mutations in PARK2 and FA2H Causes a Novel Phenotype in a Case of Childhood-Onset Movement Disorder.
Three faces of the same gene: FA2H links neurodegeneration with brain iron accumulation, leukodystrophies, and hereditary spastic paraplegias.
Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families.
Stomach Neoplasms
Fatty acid 2-hydroxylation inhibits tumor growth and increases sensitivity to cisplatin in gastric cancer.
Triple Negative Breast Neoplasms
FA2H Exhibits Tumor Suppressive Roles on Breast Cancers via Cancer Stemness Control.
Fatty acid 2-hydroxylase (FA2H) as a stimulatory molecule responsible for breast cancer cell migration.