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Human UMP-CMP kinase 2, a novel nucleoside monophosphate kinase localized in mitochondriaMPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletionKinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletionNavajo neurohepatopathy is caused by a mutation in the MPV17 geneMitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic optionsThymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance.Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talkA functionally dominant mitochondrial DNA mutation.Inherited mitochondrial DNA depletion.Defects in mitochondrial DNA replication and human diseasePost mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure.Inherited mitochondrial diseases of DNA replicationAtaxia-telangiectasia mutated kinase regulates ribonucleotide reductase and mitochondrial homeostasisDeoxyribonucleoside kinases in mitochondrial DNA depletion.Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations.Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.Mitochondrial respiratory chain hepatopathies: role of liver transplantation. A case series of five patients.Mitochondrial diseases: a nosological update.Mitochondrial hepatopathies: advances in genetics and pathogenesis.Over-expression of the catalytic core of mitochondrial DNA (mtDNA) polymerase in the nervous system of Drosophila melanogaster reduces median life span by inducing mtDNA depletion.Liver disease in mitochondrial disorders.Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.Mutations in mitochondrial DNA polymerase-gamma promote breast tumorigenesisGastrointestinal and hepatic manifestations of mitochondrial disorders.Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature.Effects of Emdogain on osteoblast gene expression.Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene.FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome.
P2860
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P2860
description
2002 nî lūn-bûn
@nan
2002 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Mitochondrial DNA depletion and dGK gene mutations
@ast
Mitochondrial DNA depletion and dGK gene mutations
@en
Mitochondrial DNA depletion and dGK gene mutations
@nl
type
label
Mitochondrial DNA depletion and dGK gene mutations
@ast
Mitochondrial DNA depletion and dGK gene mutations
@en
Mitochondrial DNA depletion and dGK gene mutations
@nl
prefLabel
Mitochondrial DNA depletion and dGK gene mutations
@ast
Mitochondrial DNA depletion and dGK gene mutations
@en
Mitochondrial DNA depletion and dGK gene mutations
@nl
P2093
P2860
P356
P1433
P1476
Mitochondrial DNA depletion and dGK gene mutations
@en
P2093
Alberto Marina
Ali B Naini
Annette Feigenbaum
Claire M Wilson
David Otaegui
Eduardo Bonilla
Karen Thompson
Leonardo Salviati
Michelangelo Mancuso
Michio Hirano
P2860
P356
10.1002/ANA.10284
P407
P577
2002-09-01T00:00:00Z