(Q34268558)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22508010%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

title

MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle (English)

1 reference

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29 January 2020

4

1 reference

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29 January 2020

Robert McFarland

6

1 reference

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29 January 2020

Robert William Taylor

7

object named as

Robert W Taylor

1 reference

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29 January 2020

1

Emma L Blakely

1 reference

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29 January 2020

author name string

Anna Butterworth

2

1 reference

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29 January 2020

Robert D M Hadden

3

1 reference

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29 January 2020

Langping He

5

1 reference

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29 January 2020

publication date

14 April 2012

1 reference

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29 January 2020

published in

Neuromuscular Disorders

1 reference

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29 January 2020

volume

22

1 reference

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29 January 2020

issue

7

1 reference

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29 January 2020

page(s)

587-591

1 reference

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A neurological perspective on mitochondrial disease.

29 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387382

Mitochondrial DNA depletion syndromes--many genes, common mechanisms

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387382

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387382

Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387382

A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387382

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387382

Inherited mitochondrial diseases of DNA replication

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387382

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387382

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387382

Navajo neurohepatopathy is caused by a mutation in the MPV17 gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387382

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387382

Mitochondrial DNA mutations in human colonic crypt stem cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387382

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387382

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387382

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387382

Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387382

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387382

Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387382

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387382

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3387382

A multiplex real-time PCR method to detect and quantify mitochondrial DNA deletions in individual cells

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22508010

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Twinkle helicase(PEO1)gene mutation causes mitochondrial DNA depletion

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22508010

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.NMD.2012.03.006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22508010%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

1 reference

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29 January 2020

PubMed publication ID

22508010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22508010%20AND%20SRC:MED&resulttype=core&format=json