Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene (Q34347182)

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English	Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene	scientific article

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2 March 2020

Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene (English)

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2 March 2020

mitochondrial DNA

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mitochondrial DNA depletion syndrome

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based on heuristic

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2 March 2020

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2 March 2020

Mohammed Al Balwi

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2 March 2020

Robert William Taylor

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Robert W Taylor

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Andrew A Morris

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Andrew Am Morris

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Carl Fratter

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Shamima Rahman

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Iain P Hargreaves

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Johanna Uusimaa

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2 March 2020

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Chunyan Liao

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Julie Evans

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2 March 2020

Conrad Smith

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2 March 2020

Anna Butterworth

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2 March 2020

Kate Craig

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Janet Carver

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Lorna Macleod

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Abdulrahman Al-Hussaini

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Eissa Faqeih

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2 March 2020

Ali Asery

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2 March 2020

Wafaa Eyaid

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Areej Al-Sunaid

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Deirdre Kelly

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Indra van Mourik

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Sarah Ball

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Joanna Jarvis

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Arundhati Mulay

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Nedim Hadzic

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Marianne Samyn

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Alastair Baker

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Helen Stewart

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Anneke Seller

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29 May 2013

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European Journal of Human Genetics

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184-191

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2 March 2020

copyright license

Creative Commons Attribution 3.0 Unported

29 May 2013

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April 2022 Public Data File from Crossref

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0 references

Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895632

6 July 2018

MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895632

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895632

6 July 2018

Clinical and molecular features of mitochondrial DNA depletion syndromes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895632

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895632

6 July 2018

Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895632

6 July 2018

Inherited mitochondrial diseases of DNA replication

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895632

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895632

6 July 2018

Biochemical assays of respiratory chain complex activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895632

6 July 2018

Navajo neurohepatopathy is caused by a mutation in the MPV17 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895632

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895632

6 July 2018

Detection of mitochondrial DNA depletion in living human cells using PicoGreen staining.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895632

6 July 2018

Whole mitochondrial genome amplification reveals basal level multiple deletions in mtDNA of patients with dilated cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895632

6 July 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.112

21 January 2018

Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.112

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.112

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.112

21 January 2018

Functional splicing assay supporting that c.70 + 5G > A mutation in the MPV17 gene is disease causing.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.112

21 January 2018

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.112

21 January 2018

POLG mutations in Alpers syndrome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.112

21 January 2018

Diagnosis of mitochondrial DNA depletion syndromes

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.112

21 January 2018

Familial sensory autonomic neuropathy with arthropathy in Navajo children

1 reference

https://pubmed.ncbi.nlm.nih.gov/23714749

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial respiratory chain defects are not accompanied by an increase in the activities of lactate dehydrogenase or manganese superoxide dismutase in paediatric skeletal muscle biopsies

1 reference

https://pubmed.ncbi.nlm.nih.gov/23714749

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/23714749

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Liver mtDNA content increases during development: A comparison of methods and the importance of age- and tissue-specific controls for the diagnosis of mtDNA depletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/23714749

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MR imaging findings in the reticular formation in siblings with MPV17-related mitochondrial depletion syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/23714749

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1038/EJHG.2013.112

1 reference

Europe PubMed Central

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2 March 2020

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2 March 2020

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2 March 2020

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