SPTLC1 is mutated in hereditary sensory neuropathy, type 1
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Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levelsHereditary sensory neuropathy type IProgress in genetic studies of pain and analgesiaMutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type IIdentification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificitiesIdentification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic IsolatesAn overview of sphingolipid metabolism: from synthesis to breakdownA missense mutation in the 3-ketodihydrosphingosine reductase FVT1 as candidate causal mutation for bovine spinal muscular atrophyTrafficking and Functions of Bioactive Sphingolipids: Lessons from Cells and Model MembranesIdentification of dietary alanine toxicity and trafficking dysfunction in a Drosophila model of hereditary sensory and autonomic neuropathy type 1.The External Aldimine Form of Serine Palmitoyltransferase: STRUCTURAL, KINETIC, AND SPECTROSCOPIC ANALYSIS OF THE WILD-TYPE ENZYME AND HSAN1 MUTANT MIMICSStructural insights into the enzymatic mechanism of serine palmitoyltransferase from Sphingobacterium multivorumSmall-fiber neuropathyPain genesHSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.The tumor suppressor cybL, a component of the respiratory chain, mediates apoptosis inductionClassification and diagnosis of the inherited neuropathies.An introduction to sphingolipid metabolism and analysis by new technologiesHereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids.Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy.A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24.A disease-causing mutation in the active site of serine palmitoyltransferase causes catalytic promiscuityDe novo sphingolipid biosynthesis: a necessary, but dangerous, pathway.Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis.Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1.Mechanisms of disease in hereditary sensory and autonomic neuropathies.The topology of the Lcb1p subunit of yeast serine palmitoyltransferase.Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I).Cloning and initial characterization of a new subunit for mammalian serine-palmitoyltransferase.Molecular characterization of membrane-associated soluble serine palmitoyltransferases from Sphingobacterium multivorum and Bdellovibrio stolpiiGenes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipid levels and rescues the phenotype of HSAN1Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificityThe debut of a rational treatment for an inherited neuropathy?Sphingolipid and ceramide homeostasis: potential therapeutic targets.Substrate Availability of Mutant SPT Alters Neuronal Branching and Growth Cone Dynamics in Dorsal Root GangliaCharacterization of mutant serine palmitoyltransferase 1 in LY-B cells.Molecular genetics of hereditary sensory neuropathies.DNA damage induces down-regulation of UDP-glucose ceramide glucosyltransferase, increases ceramide levels and triggers apoptosis in p53-deficient cancer cells.Ceramide signaling in cancer and stem cells.
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P2860
SPTLC1 is mutated in hereditary sensory neuropathy, type 1
description
2001 nî lūn-bûn
@nan
2001 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի մարտին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
SPTLC1 is mutated in hereditary sensory neuropathy, type 1
@ast
SPTLC1 is mutated in hereditary sensory neuropathy, type 1
@en
SPTLC1 is mutated in hereditary sensory neuropathy, type 1
@nl
type
label
SPTLC1 is mutated in hereditary sensory neuropathy, type 1
@ast
SPTLC1 is mutated in hereditary sensory neuropathy, type 1
@en
SPTLC1 is mutated in hereditary sensory neuropathy, type 1
@nl
prefLabel
SPTLC1 is mutated in hereditary sensory neuropathy, type 1
@ast
SPTLC1 is mutated in hereditary sensory neuropathy, type 1
@en
SPTLC1 is mutated in hereditary sensory neuropathy, type 1
@nl
P2093
P356
P1433
P1476
SPTLC1 is mutated in hereditary sensory neuropathy, type 1
@en
P2093
M D Scheffler
P2888
P356
10.1038/85817
P407
P577
2001-03-01T00:00:00Z