SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis.
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Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature.Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach.Thiamine metabolism is critical for regulating correlated growth of dendrite arbors and neuronal somata.Effect of chronic kidney disease on the expression of thiamin and folic acid transportersPRPF8 defects cause missplicing in myeloid malignancies.Mitochondrial uptake of thiamin pyrophosphate: physiological and cell biological aspects.Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathwayCharacterization of the human mitochondrial thiamine pyrophosphate transporter SLC25A19 minimal promoter: a role for NF-Y in regulating basal transcription.Treatable Leigh-like encephalopathy presenting in adolescence.Defects of thiamine transport and metabolism.Mitochondrial transporters of the SLC25 family and associated diseases: a review.The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.Treatment of genetic defects of thiamine transport and metabolism.Structure-function characterization of the human mitochondrial thiamin pyrophosphate transporter (hMTPPT; SLC25A19): Important roles for Ile(33), Ser(34), Asp(37), His(137) and Lys(291).Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.Adaptive regulation of pancreatic acinar mitochondrial thiamin pyrophosphate uptake process: possible involvement of epigenetic mechanism(s).Impact of prevailing thiamin levels on thiamin pyrophosphate uptake in pancreatic acinar cells: do the shuttle!Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors.Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancy.A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1.
P2860
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P2860
SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis.
description
2009 nî lūn-bûn
@nan
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
2009年论文
@zh
2009年论文
@zh-cn
name
SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis.
@en
type
label
SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis.
@en
prefLabel
SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis.
@en
P2093
P356
P1433
P1476
SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis.
@en
P2093
Avraham Shaag
Hanna Mandel
Ophry Pines
Orly Elpeleg
Polina Stepensky
Ronen Spiegel
Simon Edvardson
Stavit A Shalev
Yoseph Horovitz
P304
P356
10.1002/ANA.21752
P577
2009-09-01T00:00:00Z