Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy (Q24302105)

cardiac muscle tissue development

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

mitochondrion

1 reference

hypertrophic cardiomyopathy

inferred from title

1 reference

11

0 references

Dominique Chrétien

3

0 references

Agnès Rötig

10

0 references

Paule Bénit

1

0 references

Pierre Rustin

9

0 references

author name string

Réjane Beugnot

2

0 references

Irina Giurgea

4

0 references

Pascale De Lonlay-Debeney

5

0 references

Jean-Paul Issartel

6

0 references

Marisol Corral-Debrinski

7

0 references

Stefan Kerscher

Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency

8

0 references

language of work or name

English

0 references

publication date

June 2003

0 references

published in

Human Mutation

0 references

volume

21

0 references

issue

6

0 references

page(s)

582-6

0 references

cites work

1 reference

Isolation and characterization of mitochondria from human B lymphoblastoid cell lines

21 January 2018

1 reference

Comprehensive scanning of the ATM gene with DOVAM-S.

21 January 2018

1 reference

Biochemical parameters for the diagnosis of mitochondrial respiratory chain deficiency in humans, and their lack of age-related changes

21 January 2018

1 reference

Mitochondrial DNA mutations in human disease.

21 January 2018

1 reference

Conservation of sequences of subunits of mitochondrial complex I and their relationships with other proteins

21 January 2018

1 reference

Purification and molecular and enzymic properties of mitochondrial NADH dehydrogenase

21 January 2018

1 reference

Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA.

21 January 2018

1 reference

The first nuclear-encoded complex I mutation in a patient with Leigh syndrome

21 January 2018

1 reference

Isolated complex I deficiency in children: clinical, biochemical and genetic aspects

21 January 2018

1 reference

Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy

21 January 2018

1 reference

Clinical spectrum and diagnosis of mitochondrial disorders

21 January 2018

1 reference

A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome

21 January 2018

1 reference

Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase

21 January 2018

1 reference

Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts

21 January 2018

1 reference

Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy

21 January 2018

1 reference

Cloning and sequencing of a cDNA encoding the precursor to the 24 kDa iron-sulfur protein of human mitochondrial NADH dehydrogenase

21 January 2018

1 reference

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.

21 January 2018

1 reference

Respiratory chain complex I deficiency

21 January 2018

1 reference

Demonstration of a New Pathogenic Mutation in Human Complex I Deficiency: A 5-bp Duplication in the Nuclear Gene Encoding the 18-kD (AQDQ) Subunit

21 January 2018

1 reference

Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene

21 January 2018

1 reference

7 January 2021

A nonradioactive double detection method for the assignment of spots in two-dimensional blots

1 reference

7 January 2021

The Consequences of a Mild Respiratory Chain Deficiency on Substrate Competitive Oxidation in Human Mitochondria

1 reference

7 January 2021

BRCA2 germline mutations in Cypriot patients with familial breast/ovarian cancer

1 reference

7 January 2021

Biochemical and molecular investigations in respiratory chain deficiencies

1 reference

7 January 2021

Inhibition of copper-zinc superoxide dismutase induces cell growth, hypertrophic phenotype, and apoptosis in neonatal rat cardiac myocytes in vitro

1 reference

7 January 2021

Identifiers

DOI

10.1002/HUMU.10225

1 reference

Consolidated OpenCitations Corpus – April 2017

release_6taooa7ferhlfk7oqcgeivod6i

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/6taooa7ferhlfk7oqcgeivod6i

24 November 2022

mapped directly with Wikidata item

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

12754703

1 reference

Consolidated OpenCitations Corpus – April 2017