MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion (Q24313262)

MpV17 mitochondrial inner membrane protein

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

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1 reference

20

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Valeria Tiranti

19

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Erika Fernandez-Vizarra

René Massimiliano Marsano

3

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René Massimiliano Marsano

7

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Claudia Donnini

Claudia Donnini

8

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Antonella Spinazzola

Antonella Spinazzola

1

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Rossella Parini

Rossella Parini

11

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Salvatore DiMauro

14

Salvatore DiMauro

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Vamsi Mootha

18

Vamsi K Mootha

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Carlo Viscomi

2

Carlo Viscomi

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author name string

Franco Carrara

4

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Sarah Calvo

6

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Hans Weiher

9

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Pietro Strisciuglio

10

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Emmanuelle Sarzi

12

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Alicia Chan

13

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Agnes Rötig

15

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Iliana Ferrero

17

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Paolo Gasparini

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

16

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language of work or name

English

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publication date

May 2006

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published in

Nature Genetics

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volume

38

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issue

5

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page(s)

570-5

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cites work

1 reference

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

20 April 2017

1 reference

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

20 April 2017

1 reference

https://api.crossref.org/works/10.1038/NG1765

Mitochondrial DNA depletion and dGK gene mutations

20 April 2017

1 reference

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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

20 April 2017

1 reference

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Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

20 April 2017

1 reference

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Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain

20 April 2017

1 reference

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Site-directed mutagenesis by overlap extension using the polymerase chain reaction

20 April 2017

1 reference

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Disorders of nuclear-mitochondrial intergenomic signaling

20 April 2017

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POLG mutations in Alpers syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

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New developments in mitochondrial assembly

21 January 2018

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The protein import machinery of mitochondria

21 January 2018

1 reference

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Mitochondrial processing peptidases

21 January 2018

1 reference

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Insertion of hydrophobic membrane proteins into the inner mitochondrial membrane--a guided tour

21 January 2018

1 reference

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Nucleotide sequence of cDNA encoding human cytochrome c oxidase subunit VIc

21 January 2018

1 reference

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Isolation of biogenetically competent mitochondria from mammalian tissues and cultured cells

21 January 2018

1 reference

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Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions.

21 January 2018

1 reference

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Isolation of intracellular membranes by means of sodium carbonate treatment: application to endoplasmic reticulum

21 January 2018

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Clinical and molecular findings in children with complex I deficiency

21 January 2018

1 reference

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Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability

21 January 2018

1 reference

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Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations

21 January 2018

1 reference

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

21 January 2018

1 reference

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7 January 2021

Systematic identification of human mitochondrial disease genes through integrative genomics

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7 January 2021

Mitochondrial DNA from yeast “petite” mutants: Specific changes of buoyant density corresponding to different cytoplasmic mutations

1 reference

https://api.crossref.org/works/10.1038%2FNG1765

7 January 2021

Structure of the signal sequences for two mitochondrial matrix proteins that are not proteolytically processed upon import

1 reference

https://api.crossref.org/works/10.1038%2FNG1765

7 January 2021

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

1 reference

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7 January 2021

Transbilayer movement and distribution of spin-labelled phospholipids in the inner mitochondrial membrane

1 reference

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7 January 2021

Disruption of the outer membrane restores protein import to trypsin-treated yeast mitochondria.

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7 January 2021