Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.
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AAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failureMitochondrial geneticsMitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic optionsThe channel-forming Sym1 protein is transported by the TIM23 complex in a presequence-independent mannerDeep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy MetabolismRHAMM (CD168) is overexpressed at the protein level and may constitute an immunogenic antigen in advanced prostate cancer disease.Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talkMPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle.Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 geneIndividual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology.MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA DeletionsEarly-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice.Mitochondrial DNA content varies with pathological characteristics of breast cancer.Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathyTwo patients with hepatic mtDNA depletion syndromes and marked elevations of S-adenosylmethionine and methionineEvidence supporting the conceptual framework of cancer chemoprevention in canines.Canine MPV17 truncation without clinical manifestations.Spatial and functional organization of mitochondrial protein network.transparent, a gene affecting stripe formation in Zebrafish, encodes the mitochondrial protein Mpv17 that is required for iridophore survivalReduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.Evaluation of the child with suspected mitochondrial liver diseaseMitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.The power of yeast to model diseases of the powerhouse of the cell.Syndromes associated with mitochondrial DNA depletion.Infantile-onset disorders of mitochondrial replication and protein synthesis.Gastrointestinal and hepatic manifestations of mitochondrial disorders.Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher diseaseThree Nonsynonymous Single Nucleotide Polymorphisms in the RhitH Gene Cause Reduction of the Repression Activity That Leads to Upregulation of M-LPH, a Participant in Mitochondrial FunctionHepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 geneLiver pathology in infantile mitochondrial DNA depletion syndrome.MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator.A novel MPV17 gene mutation in a Saudi infant causing fatal progressive liver failure.Mitochondrial depletion causes neonatal-onset leigh syndrome, myopathy, and renal tubulopathy.Missing mitochondrial Mpv17 gene function induces tissue-specific cell-death pathway in the degenerating inner ear.Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy.Real-time quantitative PCR analysis of mitochondrial DNA content.Application of dual-genome oligonucleotide array-based comparative genomic hybridization to the molecular diagnosis of mitochondrial DNA deletion and depletion syndromes.Mitochondrial Depletion Syndromes in Children and Adults
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P2860
Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.
description
2007 nî lūn-bûn
@nan
2007 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
name
Mutations in the MPV17 gene ar ...... sive liver failure in infancy.
@ast
Mutations in the MPV17 gene ar ...... sive liver failure in infancy.
@en
Mutations in the MPV17 gene ar ...... sive liver failure in infancy.
@nl
type
label
Mutations in the MPV17 gene ar ...... sive liver failure in infancy.
@ast
Mutations in the MPV17 gene ar ...... sive liver failure in infancy.
@en
Mutations in the MPV17 gene ar ...... sive liver failure in infancy.
@nl
prefLabel
Mutations in the MPV17 gene ar ...... sive liver failure in infancy.
@ast
Mutations in the MPV17 gene ar ...... sive liver failure in infancy.
@en
Mutations in the MPV17 gene ar ...... sive liver failure in infancy.
@nl
P2093
P50
P356
P1433
P1476
Mutations in the MPV17 gene ar ...... ssive liver failure in infancy
@en
P2093
Beverly B Dahms
Cavatina K Truong
Charles L Hoppel
Douglas S Kerr
Eric S Schmitt
Erin E Baldwin
Ignacio Gonzalez-Gomez
Kevin E Bove
Lee-Jun C Wong
P2860
P304
P356
10.1002/HEP.21799
P407
P577
2007-10-01T00:00:00Z