(Q54664039)

2 June 2018

title

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

1 reference

2 June 2018

author name string

Aleix Navarro-Sastre

1

1 reference

2 June 2018

Maria Teresa García-Silva

2

1 reference

2 June 2018

Elena Martín-Hernández

3

1 reference

2 June 2018

Montserrat Lluch

4

1 reference

2 June 2018

Paz Briones

5

1 reference

2 June 2018

Antonia Ribes

6

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2 June 2018

publication date

8 July 2010

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2 June 2018

Journal of Inherited Metabolic Disease

published in

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2 June 2018

volume

33 Suppl 3

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2 June 2018

page(s)

S293-6

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2 June 2018

https://scigraph.springernature.com/pub.10.1007/s10545-010-9155-x

exact match

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9155-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9155-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9155-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9155-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9155-X

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9155-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9155-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9155-X

Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9155-X

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9155-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9155-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9155-X

Defects of intergenomic communication: where do we stand?

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20614188

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/20614188

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10545-010-9155-X

1 reference

2 June 2018

1 reference

2 June 2018