(Q30384428)

21 June 2017

title

MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations. (English)

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mitochondrial DNA depletion syndrome

21 June 2017

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1

Ayman W El-Hattab

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21 June 2017

5

William J Craigen

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21 June 2017

Fang-Yuan Li

2

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21 June 2017

Eric Schmitt

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3

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21 June 2017

Shulin Zhang

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4

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21 June 2017

Lee-Jun C Wong

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6

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21 June 2017

publication date

13 October 2009

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Molecular Genetics and Metabolism

21 June 2017

published in

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21 June 2017

volume

99

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21 June 2017

issue

3

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21 June 2017

page(s)

300-308

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Mitochondrial diseases in man and mouse

21 June 2017

cites work

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.003

Clinical and molecular features of mitochondrial DNA depletion syndromes.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.003

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.003

Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.003

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.003

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.003

Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.003

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.003

Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.003

Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.003

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.003

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.003

Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.003

Navajo neurohepatopathy is caused by a mutation in the MPV17 gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.003

Liver disease in Navajo neuropathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.003

Navajo neurohepatopathy: a mitochondrial DNA depletion syndrome?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.003

Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.003

Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: description of an alternative MPV17 spliced form.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.003

Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.003

Simultaneous detection and quantification of mitochondrial DNA deletion(s), depletion, and over-replication in patients with mitochondrial disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.003

Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormalities in skeletal muscle

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.003

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.003

Minimum birth prevalence of mitochondrial respiratory chain disorders in children

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.003

Neonatal and delayed-onset liver involvement in disorders of oxidative phosphorylation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.003

Mitochondrial hepatopathies: advances in genetics and pathogenesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.003

Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.003

Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.003

Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.003

SYM1 is the stress-induced Saccharomyces cerevisiae ortholog of the mammalian kidney disease gene Mpv17 and is required for ethanol metabolism and tolerance during heat shock

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.003

The glomerulosclerosis gene Mpv17 encodes a peroxisomal protein producing reactive oxygen species

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.003

Transgenic mouse model of kidney disease: Insertional inactivation of ubiquitously expressed gene leads to nephrotic syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.003

Inner ear defect similar to Alport's syndrome in the glomerulosclerosis mouse model Mpv17

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.003

Abnormal basement membrane in the inner ear and the kidney of the Mpv17-/- mouse strain: ultrastructural and immunohistochemical investigations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.003

Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.003

Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.003

10.1016/J.YMGME.2009.10.003

7 January 2021

Identifiers

DOI

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21 June 2017

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