NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood
about
Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III DeficienciesBiallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.Confronting the catalytic dark matter encoded by sequenced genomes.Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease.SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN).Longevity of major coenzymes allows minimal de novo synthesis in microorganisms.AIBP, NAXE, and Angiogenesis: What's in a Name?Evidence that the metabolite repair enzyme NAD(P)HX epimerase has a moonlighting function.Genotype to phenotype mapping still needs underpinning by research in metabolism and enzymology.
P2860
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P2860
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood
description
2016 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2016
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im Oktober 2016 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
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wetenschappelijk artikel (gepubliceerd op 2016/10/06)
@nl
наукова стаття, опублікована в жовтні 2016
@uk
مقالة علمية (نشرت في 6-10-2016)
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name
NAXE Mutations Disrupt the Cel ...... ic Disorder of Early Childhood
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NAXE Mutations Disrupt the Cel ...... ic Disorder of Early Childhood
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type
label
NAXE Mutations Disrupt the Cel ...... ic Disorder of Early Childhood
@ast
NAXE Mutations Disrupt the Cel ...... ic Disorder of Early Childhood
@en
prefLabel
NAXE Mutations Disrupt the Cel ...... ic Disorder of Early Childhood
@ast
NAXE Mutations Disrupt the Cel ...... ic Disorder of Early Childhood
@en
P2093
P2860
P50
P1476
NAXE Mutations Disrupt the Cel ...... ic Disorder of Early Childhood
@en
P2093
Annette Seibt
Danijela Petkovic Ramadža
Diran Herebian
Dominik Schneider
Ertan Mayatepek
Felix Distelmaier
Katharina Danhauser
Klaus Lohmeier
P2860
P304
P356
10.1016/J.AJHG.2016.07.018
P407
P50
P577
2016-09-08T00:00:00Z