(Q36915427)

17 August 2017

FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency (English)

1 reference

mitochondrial encephalomyopathy

17 August 2017

1 reference

6

1 reference

17 August 2017

Erika Fernandez-Vizarra

Erika Fernandez-Vizarra

4

0 references

Daniele Ghezzi

Daniele Ghezzi

1

0 references

Ann Saada

Ann Saada

2

0 references

Massimo Zeviani

8

Massimo Zeviani

1 reference

17 August 2017

Pio D'Adamo

3

1 reference

17 August 2017

Paolo Gasparini

5

1 reference

17 August 2017

Orly Elpeleg

7

1 reference

17 August 2017

language of work or name

English

0 references

publication date

4 September 2008

1 reference

American Journal of Human Genetics

17 August 2017

1 reference

17 August 2017

83

1 reference

17 August 2017

3

1 reference

17 August 2017

415-423

1 reference

A mitochondrial protein compendium elucidates complex I disease biology

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556431

Disorders of nuclear-mitochondrial intergenomic communication

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556431

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556431

Systematic identification of human mitochondrial disease genes through integrative genomics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556431

Pathogenesis, diagnosis and treatment of Rasmussen encephalitis: a European consensus statement

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556431

Molecular diagnostics of mitochondrial disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556431

FAST is a survival protein that senses mitochondrial stress and modulates TIA-1-regulated changes in protein expression

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556431

29 September 2017

Mitochondrial disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556431

The protein import machinery of mitochondria

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556431

Blue Native electrophoresis to study mitochondrial and other protein complexes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556431

The expanding spectrum of nuclear gene mutations in mitochondrial disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556431

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556431

Protein import into mitochondria

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556431

Prevention of apoptosis by Bcl-2: release of cytochrome c from mitochondria blocked

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556431

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556431

Clinical and molecular findings in children with complex I deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556431

Isolation of biogenetically competent mitochondria from mammalian tissues and cultured cells

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556431

Multipoint estimation of identity-by-descent probabilities at arbitrary positions among marker loci on general pedigrees

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556431

4 September 2018

Mitochondrial disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556431

Superoxide in apoptosis. Mitochondrial generation triggered by cytochrome c loss

4 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18771761

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A protocol for detection of mitochondrial DNA deletions: characterization of a novel deletion

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18771761

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2008.08.009

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

18771761

1 reference