Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency (Q34146780)

31 July 2017

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency (English)

1 reference

Cytochrome c oxidase assembly factor 8

31 July 2017

1 reference

positive regulation of cytochrome-c oxidase activity

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Thomas Meitinger

14

1 reference

31 July 2017

Anna Ardissone

21

0 references

Daria Diodato

Daria Diodato

12

0 references

Erika Fernandez-Vizarra

Erika Fernandez-Vizarra

5

0 references

Eleonora Lamantea

Eleonora Lamantea

6

0 references

Daniele Ghezzi

Daniele Ghezzi

28

0 references

Rosalba Carrozzo

Rosalba Carrozzo

10

0 references

Richard J Rodenburg

Richard J Rodenburg

19

0 references

Enrico Bertini

Enrico Bertini

26

0 references

Silvia Marchet

Silvia Marchet

7

0 references

Holger Prokisch

Holger Prokisch

24

0 references

Massimo Zeviani

29

Massimo Zeviani

1 reference

31 July 2017

20

Costanza Lamperti

1 reference

31 July 2017

23

Graziella Uziel

1 reference

31 July 2017

22

Isabella Moroni

1 reference

31 July 2017

9

Maurizio Moggio

1 reference

31 July 2017

Robert William Taylor

25

Robert W Taylor

1 reference

ORCID Public Data File 2021

31 July 2017

1 reference

Tobias B Haack

2

Tobias B Haack

1 reference

31 July 2017

13

Tim M Strom

1 reference

31 July 2017

1

Laura Melchionda

1 reference

31 July 2017

4

Truus E M Abbink

1 reference

31 July 2017

27

Marjo S van der Knaap

1 reference

31 July 2017

3

Steven Hardy

1 reference

31 July 2017

Lucia Morandi

8

1 reference

31 July 2017

Alessandra Torraco

11

1 reference

31 July 2017

Pinar Tekturk

15

1 reference

31 July 2017

Zuhal Yapici

16

1 reference

31 July 2017

Fathiya Al-Murshedi

17

1 reference

31 July 2017

René Stevens

18

1 reference

31 July 2017

language of work or name

English

0 references

publication date

28 August 2014

1 reference

American Journal of Human Genetics

31 July 2017

1 reference

31 July 2017

95

1 reference

31 July 2017

315-325

1 reference

31 July 2017

3

1 reference

Novel (ovario) leukodystrophy related to AARS2 mutations

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157140

Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157140

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157140

SURF1 deficiency: a multi-centre natural history study.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157140

The many clinical faces of cytochrome c oxidase deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157140

Assembly factors of human mitochondrial respiratory chain complexes: physiology and pathophysiology

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157140

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157140

Infantile mitochondrial encephalopathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157140

Targeting mitochondrial dysfunction: role for PINK1 and Parkin in mitochondrial quality control

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157140

Pathogenesis and treatment of mitochondrial disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157140

The effect of MG132, a proteasome inhibitor on HeLa cells in relation to cell growth, reactive oxygen species and GSH.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157140

Akt activation prevents Apop-1-induced death of cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157140

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157140

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157140

Apop-1, a novel protein inducing cyclophilin D-dependent but Bax/Bak-related channel-independent apoptosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157140

Cell-type-specific regulation of degradation of hypoxia-inducible factor 1 alpha: role of subcellular compartmentalization

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157140

The possible role of cytochrome c oxidase in stress-induced apoptosis and degenerative diseases

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157140

Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157140

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157140

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157140

Cell respiration is controlled by ATP, an allosteric inhibitor of cytochrome-c oxidase

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157140

The whole structure of the 13-subunit oxidized cytochrome c oxidase at 2.8 A

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157140

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157140

A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157140

Clinical and molecular findings in children with complex I deficiency

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157140

Cerebral white matter involvement in children with mitochondrial encephalopathies

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157140

Apoptosis and ROS detoxification enzymes correlate with cytochrome c oxidase deficiency in mitochondrial encephalomyopathies.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157140

Crystal structure of bovine heart cytochrome c oxidase at 2.8 A resolution.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157140

Cytochemistry and immunocytochemistry of mitochondria in tissue sections

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25175347

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Induction, Effects, and Quantification of Sublethal Oxidative Stress by Hydrogen Peroxide on Cultured Human Fibroblasts

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25175347

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2014.08.003

1 reference

31 July 2017

1 reference

31 July 2017

1 reference