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Disease on EC 2.3.1.50 - serine C-palmitoyltransferase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
alpha-galactosidase deficiency
Reduction of plasma glycosphingolipid levels has no impact on atherosclerosis in apolipoprotein E-null mice.
Alzheimer Disease
Inhibition of serine palmitoyltransferase reduces A? and tau hyperphosphorylation in a murine model: a safe therapeutic strategy for Alzheimer's disease.
MicroRNA-137/181c regulates serine palmitoyltransferase and in turn amyloid ?, novel targets in sporadic Alzheimer's disease.
Amyotrophic Lateral Sclerosis
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Towards personalized medicine for amyotrophic lateral sclerosis.
Ataxia
Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy.
Atherosclerosis
Cell polarity factor Par3 binds SPTLC1 and modulates monocyte serine palmitoyltransferase activity and chemotaxis.
Enzymology of long-chain base synthesis by aorta: induction of serine palmitoyltransferase activity in rabbit aorta during atherogenesis.
Inhibition of atherosclerosis by the serine palmitoyl transferase inhibitor myriocin is associated with reduced plasma glycosphingolipid concentration.
Inhibition of serine palmitoyltransferase activity in rabbit aorta by L-cycloserine.
Myeloid cell-specific serine palmitoyltransferase subunit 2 haploinsufficiency reduces murine atherosclerosis.
Myriocin slows the progression of established atherosclerotic lesions in apolipoprotein E gene knockout mice.
Myriocin-mediated up-regulation of hepatocyte apoA-I synthesis is associated with ERK inhibition.
Reduction of plasma glycosphingolipid levels has no impact on atherosclerosis in apolipoprotein E-null mice.
Brain Neoplasms
Novel Functional Association of Serine Palmitoyltransferase Subunit 1-A Peptide in Sphingolipid Metabolism with Cytochrome P4501A1 Transactivation and Proliferative Capacity of the Human Glioma LN18 Brain Tumor Cell Line.
Breast Neoplasms
Causal Bayesian gene networks associated with bone, brain and lung metastasis of breast cancer.
Enhanced de novo ceramide generation through activation of serine palmitoyltransferase by the P-glycoprotein antagonist SDZ PSC 833 in breast cancer cells.
Carcinogenesis
Liver Serine Palmitoyltransferase (SPT) Activity Deficiency in Early Life Impairs Adherens Junctions and Promotes Tumorigenesis.
Carcinoma
Pharmacological Inhibition of Serine Palmitoyl Transferase and Sphingosine Kinase-1/-2 Inhibits Merkel Cell Carcinoma Cell Proliferation.
SPTLC1 inhibits cell growth via modulating Akt/FOXO1 pathway in renal cell carcinoma cells.
Carcinoma, Hepatocellular
Comparison of serine palmitoyltransferase in Morris hepatoma 7777 and rat liver.
Hepatic expression of the Sptlc3 subunit of serine palmitoyltransferase is associated with the development of hepatocellular carcinoma in a mouse model of nonalcoholic steatohepatitis.
Carcinoma, Merkel Cell
Pharmacological Inhibition of Serine Palmitoyl Transferase and Sphingosine Kinase-1/-2 Inhibits Merkel Cell Carcinoma Cell Proliferation.
Carcinoma, Renal Cell
SPTLC1 inhibits cell growth via modulating Akt/FOXO1 pathway in renal cell carcinoma cells.
Cataract
Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype.
Demyelinating Diseases
Aberrant Upregulation of Astroglial Ceramide Potentiates Oligodendrocyte Injury.
Diabetes Mellitus, Type 2
Imidazopyridine and Pyrazolopiperidine Derivatives as Novel Inhibitors of Serine Palmitoyl Transferase.
Diphtheria
Diphtheria toxin translocation across cellular membranes is regulated by sphingolipids.
Dyslipidemias
Imidazopyridine and Pyrazolopiperidine Derivatives as Novel Inhibitors of Serine Palmitoyl Transferase.
Encephalitis
Insights into abnormal sphingolipid metabolism in multiple sclerosis: targeting ceramide biosynthesis as a unique therapeutic strategy.
Fatty Liver
Sphingolipids and hepatic steatosis.
Glioma
Identification of Gliotropic Factors That Induce Human Stem Cell Migration to Malignant Tumor.
Novel Functional Association of Serine Palmitoyltransferase Subunit 1-A Peptide in Sphingolipid Metabolism with Cytochrome P4501A1 Transactivation and Proliferative Capacity of the Human Glioma LN18 Brain Tumor Cell Line.
Heart Failure
Cardiomyocyte Krüppel-Like Factor 5 Promotes De Novo Ceramide Biosynthesis and Contributes to Eccentric Remodeling in Ischemic Cardiomyopathy.
Hepatitis C
A serine palmitoyltransferase inhibitor blocks hepatitis C virus replication in human hepatocytes.
The suppressive effect that myriocin has on hepatitis C virus RNA replication is independent of inhibition of serine palmitoyl transferase.
[Suppression of hepatitis C virus (HCV) replication with serine palmitoyltransferase inhibitor]
Hereditary Sensory and Autonomic Neuropathies
A global in vivo Drosophila RNAi screen identifies a key role of ceramide phosphoethanolamine for glial ensheathment of axons.
A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated.
An iPSC model of hereditary sensory neuropathy-1 reveals L-serine-responsive deficits in neuronal ganglioside composition and axoglial interactions.
Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24.
Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I).
Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation.
Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy.
Expanding the spectrum of SPTLC1-related disorders beyond hereditary sensory and autonomic neuropathies: A novel case of the distinct "S331 syndrome".
Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.
Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese.
Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis.
Hereditary sensory neuropathy type 1-associated deoxysphingolipids cause neurotoxicity, acute calcium handling abnormalities and mitochondrial dysfunction in vitro.
Increased lipid droplet accumulation associated with a peripheral sensory neuropathy.
Late-onset hereditary sensory neuropathy type I due to SPTLC1 mutation: autopsy findings.
Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype.
Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I.
Mutations in the SPTLC1 Protein Cause Mitochondrial Structural Abnormalities and Endoplasmic Reticulum Stress in Lymphoblasts.
Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.
Mutations in the yeast LCB1 and LCB2 genes, including those corresponding to the hereditary sensory neuropathy type I mutations, dominantly inactivate serine palmitoyltransferase.
Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort.
Regulation of de novo sphingolipid biosynthesis and the toxic consequences of its disruption.
SPTLC1 and RAB7 mutation analysis in dominantly inherited and idiopathic sensory neuropathies.
SPTLC1 is mutated in hereditary sensory neuropathy, type 1.
SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I.
Substrate Availability of Mutant SPT Alters Neuronal Branching and Growth Cone Dynamics in Dorsal Root Ganglia.
The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy.
V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I.
Hypertension
Nogo-B regulates endothelial sphingolipid homeostasis to control vascular function and blood pressure.
Infections
Drosophila melanogaster as a complementary system for studying HIV-1-related genes and proteins.
Effects of Mycoplasma pneumoniae infection on sphingolipid metabolism in human lung carcinoma A549 cells.
Leishmania (Viannia) braziliensis Inositol Phosphorylceramide: Distinctive Sphingoid Base Composition.
Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8+ T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness.
MPK6, sphinganine and the LCB2a gene from serine palmitoyltransferase are required in the signaling pathway that mediates cell death induced by long chain bases in Arabidopsis.
Viral serine palmitoyltransferase induces metabolic switch in sphingolipid biosynthesis and is required for infection of a marine alga.
Influenza, Human
Intact sphingomyelin biosynthetic pathway is essential for intracellular transport of influenza virus glycoproteins.
Insulin Resistance
Dietary supplement of conjugated linoleic acids or polyunsaturated fatty acids suppressed the mobilization of body fat reserves in dairy cows at early lactation through different pathways.
Effects of inhibition of serine palmitoyltransferase (SPT) and sphingosine kinase 1 (SphK1) on palmitate induced insulin resistance in L6 myotubes.
Inhibition of serine palmitoyl transferase I reduces cardiac ceramide levels and increases glycolysis rates following diet-induced insulin resistance.
Mechanistic interplay between ceramide and insulin resistance.
Modulating serine palmitoyl transferase (SPT) expression and activity unveils a crucial role in lipid-induced insulin resistance in rat skeletal muscle cells.
Overexpression of the Adiponectin Receptor AdipoR1 in Rat Skeletal Muscle Amplifies Local Insulin Sensitivity.
Reducing Plasma Membrane Sphingomyelin Increases Insulin Sensitivity.
Sulforaphane Prevents Hepatic Insulin Resistance by Blocking Serine Palmitoyltransferase 3-Mediated Ceramide Biosynthesis.
Joint Instability
Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype.
Keratosis
Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy.
Leukocytosis
Macrophage-specific de Novo Synthesis of Ceramide Is Dispensable for Inflammasome-driven Inflammation and Insulin Resistance in Obesity.
Liver Neoplasms, Experimental
Comparison of serine palmitoyltransferase in Morris hepatoma 7777 and rat liver.
Lung Neoplasms
Using a biologically annotated library to analyze the anticancer mechanism of serine palmitoyl transferase (SPT) inhibitors.
Lymphoma
De novo ceramide accumulation due to inhibition of its conversion to complex sphingolipids in apoptotic photosensitized cells.
Magnesium Deficiency
Magnesium deficiency upregulates serine palmitoyl transferase (SPT 1 and SPT 2) in cardiovascular tissues: relationship to serum ionized Mg and cytochrome c.
Malnutrition
Undernutrition decreases serine palmitoyltransferase activity in developing rat hypothalamus.
Melanoma
Myriocin, a serine palmitoyltransferase inhibitor, suppresses tumor growth in a murine melanoma model by inhibiting de novo sphingolipid synthesis.
Serine palmitoyltransferase inhibitor myriocin induces growth inhibition of B16F10 melanoma cells through G(2) /M phase arrest.
Multiple Sclerosis
Ceramide and Sphingosine Regulation of Myelinogenesis: Targeting Serine Palmitoyltransferase Using microRNA in Multiple Sclerosis.
Muscle Hypotonia
Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype.
Muscular Atrophy
Expanding the spectrum of SPTLC1-related disorders beyond hereditary sensory and autonomic neuropathies: A novel case of the distinct "S331 syndrome".
Myocardial Infarction
Increased de novo ceramide synthesis and accumulation in failing myocardium.
Neoplasm Metastasis
C24 -Ceramide Drives Gallbladder Cancer Progression through Directly Targeting PIP4K2C to Facilitate mTOR Signaling Activation.
Causal Bayesian gene networks associated with bone, brain and lung metastasis of breast cancer.
Neoplasms
Antitumor activity of a novel and orally available inhibitor of serine palmitoyltransferase.
Aster glehni Extract Containing Caffeoylquinic Compounds Protects Human Keratinocytes through the TRPV4-PPAR?-AMPK Pathway.
C24 -Ceramide Drives Gallbladder Cancer Progression through Directly Targeting PIP4K2C to Facilitate mTOR Signaling Activation.
Cycloserine and threo-dihydrosphingosine inhibit TNF-alpha-induced cytotoxicity: evidence for the importance of de novo ceramide synthesis in TNF-alpha signaling.
Decreased SPTLC1 expression predicts worse outcomes in ccRCC patients.
Dietary Soy Protein Reduces Cardiac Lipid Accumulation and the Ceramide Concentration in High-Fat Diet-Fed Rats and ob/ob Mice.
Discovery of novel serine palmitoyltransferase inhibitors as cancer therapeutic agents.
Enhanced serine palmitoyltransferase expression in proliferating fibroblasts, transformed cell lines, and human tumors.
Myriocin, a serine palmitoyltransferase inhibitor, suppresses tumor growth in a murine melanoma model by inhibiting de novo sphingolipid synthesis.
Spinal ceramide modulates the development of morphine antinociceptive tolerance via peroxynitrite-mediated nitroxidative stress and neuroimmune activation.
SPTLC1 inhibits cell growth via modulating Akt/FOXO1 pathway in renal cell carcinoma cells.
Neuralgia
Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort.
Neuroblastoma
N-(4-hydroxyphenyl)retinamide elevates ceramide in neuroblastoma cell lines by coordinate activation of serine palmitoyltransferase and ceramide synthase.
Neurodegenerative Diseases
A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated.
Increased lipid droplet accumulation associated with a peripheral sensory neuropathy.
Non-alcoholic Fatty Liver Disease
Hepatic expression of the Sptlc3 subunit of serine palmitoyltransferase is associated with the development of hepatocellular carcinoma in a mouse model of nonalcoholic steatohepatitis.
Obesity
Central Ceramide Signaling Mediates Obesity-Induced Precocious Puberty.
Ceramides are necessary and sufficient for diet-induced impairment of thermogenic adipocytes.
Pain Insensitivity, Congenital
Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort.
Pancreatic Neoplasms
?-Tocotrienol induces apoptosis in pancreatic cancer cells by upregulation of ceramide synthesis and modulation of sphingolipid transport.
Paraplegia
Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy.
Peripheral Nervous System Diseases
Hereditary sensory neuropathy type 1-associated deoxysphingolipids cause neurotoxicity, acute calcium handling abnormalities and mitochondrial dysfunction in vitro.
HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.
Mitochondrial protein alterations in a familial peripheral neuropathy caused by the V144D amino acid mutation in the sphingolipid protein, SPTLC1.
V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I.
Pneumonia
Inhibition of serine palmitoyltransferase delays the onset of radiation-induced pulmonary fibrosis through the negative regulation of sphingosine kinase-1 expression.
Polyneuropathies
Demyelination in hereditary sensory neuropathy type-1C.
Pulmonary Fibrosis
Inhibition of serine palmitoyltransferase delays the onset of radiation-induced pulmonary fibrosis through the negative regulation of sphingosine kinase-1 expression.
serine c-palmitoyltransferase deficiency
Analysis of development of lesions in mice with serine palmitoyltransferase (SPT) deficiency -Sptlc2 conditional knockout mice-.
Liver-specific deficiency of serine palmitoyltransferase subunit 2 decreases plasma sphingomyelin and increases apolipoprotein E levels.
Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8+ T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness.
Sphingolipid de novo biosynthesis is essential for intestine cell survival and barrier function.
stearoyl-coa 9-desaturase deficiency
Stearoyl-CoA desaturase-1 deficiency reduces ceramide synthesis by downregulating serine palmitoyltransferase and increasing beta-oxidation in skeletal muscle.
Telangiectasis
Hereditary sensory and autonomic neuropathy type IC accompanied by upper motor neuron abnormalities and type II juxtafoveal retinal telangiectasias.
Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy.
Thrombosis
Ceramidase critically affects GPVI-dependent platelet activation and thrombus formation.