(Q33853426)

English

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

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scholarly article

1 reference

Europe PubMed Central

29 July 2017

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

1 reference

Europe PubMed Central

29 July 2017

mitochondrial complex I deficiency

1 reference

based on heuristic

inferred from title

lactic acidosis

1 reference

based on heuristic

inferred from title

Isabelle Paintrand

1 reference

ORCID Public Data File 2021

author name string

Procaccio V

1

1 reference

Europe PubMed Central

29 July 2017

Mousson B

2

1 reference

Europe PubMed Central

29 July 2017

Beugnot R

3

1 reference

Europe PubMed Central

29 July 2017

Duborjal H

4

1 reference

Europe PubMed Central

29 July 2017

Feillet F

5

1 reference

Europe PubMed Central

29 July 2017

Putet G

6

1 reference

Europe PubMed Central

29 July 2017

Pignot-Paintrand I

7

1 reference

Europe PubMed Central

29 July 2017

Lombès A

8

1 reference

Europe PubMed Central

29 July 2017

De Coo R

9

1 reference

Europe PubMed Central

29 July 2017

Smeets H

10

1 reference

Europe PubMed Central

29 July 2017

Lunardi J

11

1 reference

Europe PubMed Central

29 July 2017

Issartel JP

12

1 reference

Europe PubMed Central

29 July 2017

language of work or name

0 references

publication date

1 July 1999

1 reference

Europe PubMed Central

29 July 2017

Journal of Clinical Investigation

1 reference

Europe PubMed Central

29 July 2017

104

1 reference

Europe PubMed Central

29 July 2017

1

1 reference

Europe PubMed Central

29 July 2017

83-92

1 reference

Europe PubMed Central

29 July 2017

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408404

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408404

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408404

5 July 2018

Genomic structure of the human NDUFS8 gene coding for the iron-sulfur TYKY subunit of the mitochondrial NADH:ubiquinone oxidoreductase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408404

5 July 2018

Human complex I deficiency: clinical spectrum and involvement of oxygen free radicals in the pathogenicity of the defect

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408404

5 July 2018

Human complex I defects in neurodegenerative diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408404

5 July 2018

Mapping to 1q23 of the human gene (NDUFS2) encoding the 49-kDa subunit of the mitochondrial respiratory Complex I and immunodetection of the mature protein in mitochondria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408404

5 July 2018

Genotype in the 24-kDa subunit gene (NDUFV2) of mitochondrial complex I and susceptibility to Parkinson disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408404

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408404

5 July 2018

New familial mitochondrial encephalopathy with macrocephaly, cardiomyopathy, and complex I deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408404

5 July 2018

Sequence and structure of the human OXA1L gene and its upstream elements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408404

5 July 2018

Mitochondrial DNA mutations and pathogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408404

5 July 2018

Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408404

5 July 2018

NADH-coenzyme Q reductase (complex I) deficiency: heterogeneity in phenotype and biochemical findings

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408404

5 July 2018

Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408404

5 July 2018

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408404

5 July 2018

Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho degrees transformants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408404

5 July 2018

Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: a morphological, biochemical and molecular-genetic study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408404

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408404

5 July 2018

Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408404

5 July 2018

Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408404

5 July 2018

Human mitochondria and mitochondrial genome function as a single dynamic cellular unit

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408404

5 July 2018

Cytoplasmic transfer of the mtDNA nt 8993 T-->G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408404

5 July 2018

Molecular basis of mitochondrial DNA disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408404

5 July 2018

Human diseases with defects in oxidative phosphorylation. 1. Decreased amounts of assembled oxidative phosphorylation complexes in mitochondrial encephalomyopathies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408404

5 July 2018

Sequence and organization of the human mitochondrial genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408404

5 July 2018

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408404

5 July 2018

Molecular defects of NADH-ubiquinone oxidoreductase (complex I) in mitochondrial diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408404

5 July 2018

Deficiency of subunits of Complex I and mitochondrial encephalomyopathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408404

5 July 2018

Congenital deficiency of two polypeptide subunits of the iron-protein fragment of mitochondrial complex I.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408404

5 July 2018

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408404

5 July 2018

The use of skin fibroblast cultures in the detection of respiratory chain defects in patients with lacticacidemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408404

5 July 2018

Congenital deficiency of a 20-kDa subunit of mitochondrial complex I in fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408404

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408404

29 October 2018

Depletion of mitochondrial DNA associated with infantile cholestasis and progressive liver fibrosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408404

29 October 2018

Molecular basis of mitochondrial myopathies: polypeptide analysis in complex-I deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/10393702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10393702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of Leigh syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/10393702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression of mtDNA and nDNA encoded respiratory chain proteins in chemically and genetically-derived Rho0 human fibroblasts: a comparison of subunit proteins in normal fibroblasts treated with ethidium bromide and fibroblasts from a patient with mt

1 reference

https://pubmed.ncbi.nlm.nih.gov/10393702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial DNA in focal dystonia: A cybrid analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/10393702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)

1 reference

https://pubmed.ncbi.nlm.nih.gov/10393702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/10393702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Orientation of human spermatozoa for electron microscopy: a fast, simple method

1 reference

https://pubmed.ncbi.nlm.nih.gov/10393702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism

1 reference

https://pubmed.ncbi.nlm.nih.gov/10393702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemical and molecular investigations in respiratory chain deficiencies

1 reference

https://pubmed.ncbi.nlm.nih.gov/10393702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple deficiencies of mitochondrial DNA- and nuclear-encoded subunits of respiratory NADH dehydrogenase detected with peptide- and subunit-specific antibodies in mitochondrial myopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/10393702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An abnormal exercise test response revealing a respiratory chain complex III deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/10393702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle

1 reference

https://pubmed.ncbi.nlm.nih.gov/10393702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of Inheritance Modes of Mitochondrial Diseases by Introduction of Pure Nuclei from mtDNA-less HeLa Cells to Patient-derived Fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/10393702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/10393702

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI6184

1 reference

Europe PubMed Central

29 July 2017

release_7n4fgohqgjgsdijznvajx4fadq

1 reference

https://api.fatcat.wiki/v0/release/7n4fgohqgjgsdijznvajx4fadq

24 November 2022

based on heuristic

mapped directly with Wikidata item

1 reference

Europe PubMed Central

29 July 2017

1 reference

Europe PubMed Central

29 July 2017

ResearchGate publication ID

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