Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipid levels and rescues the phenotype of HSAN1
about
Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levelsMutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I1-Deoxysphingolipids Encountered Exogenously and Made de Novo: Dangerous Mysteries inside an EnigmaSphingolipids and phospholipids in insulin resistance and related metabolic disorders.HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids.A disease-causing mutation in the active site of serine palmitoyltransferase causes catalytic promiscuityDeoxysphingoid bases as plasma markers in diabetes mellitus.Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1.An update on sphingosine-1-phosphate and other sphingolipid mediators.An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations.Altered sphingoid base profiles in type 1 compared to type 2 diabetes.Sphingolipid and glycosphingolipid metabolic pathways in the era of sphingolipidomics.The debut of a rational treatment for an inherited neuropathy?L-Serine Deficiency Elicits Intracellular Accumulation of Cytotoxic Deoxysphingolipids and Lipid Body Formation.Substrate Availability of Mutant SPT Alters Neuronal Branching and Growth Cone Dynamics in Dorsal Root GangliaRegression of schwannomas induced by adeno-associated virus-mediated delivery of caspase-1.Solving the riddle of the sphinx may provide new insights into diabetes and polyneuropathy.Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2.Plasma sphingolipids are biomarkers of metabolic syndrome in non-human primates maintained on a Western-style diet.Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohortMetabolite profile of a mouse model of Charcot-Marie-Tooth type 2D neuropathy: implications for disease mechanisms and interventions.PLP-dependent enzymes as entry and exit gates of sphingolipid metabolism.Nuclear sphingolipid metabolism.Progress in peripheral nerve disease research in the last two years.The consequences of genetic and pharmacologic reduction in sphingolipid synthesis.Introduction to Thematic Minireview Series: Novel Bioactive Sphingolipids.Elevation of plasma 1-deoxy-sphingolipids in type 2 diabetes mellitus: a susceptibility to neuropathy?The pyridoxal 5'-phosphate (PLP)-dependent enzyme serine palmitoyltransferase (SPT): effects of the small subunits and insights from bacterial mimics of human hLCB2a HSAN1 mutationsLocalization of 1-deoxysphingolipids to mitochondria induces mitochondrial dysfunction.A pre-breeding screening program for transgenic boars based on fluorescence in situ hybridization assay.
P2860
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P2860
Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipid levels and rescues the phenotype of HSAN1
description
2009 nî lūn-bûn
@nan
2009 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Overexpression of the wild-typ ...... rescues the phenotype of HSAN1
@ast
Overexpression of the wild-typ ...... rescues the phenotype of HSAN1
@en
type
label
Overexpression of the wild-typ ...... rescues the phenotype of HSAN1
@ast
Overexpression of the wild-typ ...... rescues the phenotype of HSAN1
@en
prefLabel
Overexpression of the wild-typ ...... rescues the phenotype of HSAN1
@ast
Overexpression of the wild-typ ...... rescues the phenotype of HSAN1
@en
P2093
P2860
P1476
Overexpression of the wild-typ ...... rescues the phenotype of HSAN1
@en
P2093
Alex McCampbell
Anke Penno
Clifford J Woolf
Daniel Vardeh
Dika Kuljis
Eric Tamrazian
Florian S Eichler
Guiman Guan
Ho-Joon Lee
Jeffrey M Harmon
P2860
P304
14646-14651
P356
10.1523/JNEUROSCI.2536-09.2009
P407
P577
2009-11-01T00:00:00Z