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

1 reference

1 reference

0 references

0 references

Erika Fernandez-Vizarra

René Massimiliano Marsano

0 references

object named as

René Massimiliano Marsano

0 references

Claudia Donnini

0 references

Antonella Spinazzola

0 references

Rossella Parini

0 references

Salvatore DiMauro

0 references

Vamsi Mootha

object named as

Vamsi K Mootha

0 references

Carlo Viscomi

object named as

Carlo Viscomi

0 references

author name string

Franco Carrara

0 references

Sarah Calvo

0 references

Hans Weiher

0 references

Pietro Strisciuglio

0 references

Emmanuelle Sarzi

0 references

Alicia Chan

0 references

Agnes Rötig

0 references

Iliana Ferrero

0 references

Paolo Gasparini

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

0 references

language of work or name

English

0 references

publication date

May 2006

0 references

0 references

0 references

0 references

570-5

0 references

cites work

1 reference

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

20 April 2017

1 reference

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

20 April 2017

1 reference

Mitochondrial DNA depletion and dGK gene mutations

20 April 2017

1 reference

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

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

20 April 2017

1 reference

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

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

20 April 2017

1 reference

Disorders of nuclear-mitochondrial intergenomic signaling

20 April 2017

1 reference

POLG mutations in Alpers syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

New developments in mitochondrial assembly

21 January 2018

1 reference

The protein import machinery of mitochondria

21 January 2018

1 reference

Mitochondrial processing peptidases

21 January 2018

1 reference

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

21 January 2018

1 reference

Nucleotide sequence of cDNA encoding human cytochrome c oxidase subunit VIc

21 January 2018

1 reference

Isolation of biogenetically competent mitochondria from mammalian tissues and cultured cells

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Clinical and molecular findings in children with complex I deficiency

21 January 2018

1 reference

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

Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations

21 January 2018

1 reference

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

21 January 2018

1 reference

7 January 2021

Systematic identification of human mitochondrial disease genes through integrative genomics

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021