Mutation detection in four candidate genes (OXA1L, MRS2L, YME1L and MIPEP) for combined deficiencies in the oxidative phosphorylation system (Q82365105)

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scientific article published on 01 January 2005

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English	Mutation detection in four candidate genes (OXA1L, MRS2L, YME1L and MIPEP) for combined deficiencies in the oxidative phosphorylation system	scientific article published on 01 January 2005

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16435202%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Mutation detection in four candidate genes (OXA1L, MRS2L, YME1L and MIPEP) for combined deficiencies in the oxidative phosphorylation system (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16435202%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

author name string

M J H Coenen

1

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16 January 2020

J A M Smeitink

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16435202%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

R Smeets

3

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16435202%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

F J M Trijbels

4

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Europe PubMed Central

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16 January 2020

L P van den Heuvel

5

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16 January 2020

publication date

1 January 2005

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16 January 2020

Journal of Inherited Metabolic Disease

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Europe PubMed Central

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16 January 2020

28

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16 January 2020

6

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16 January 2020

1091-1097

1 reference

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PubMed publication ID

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16 January 2020

Cloning, expression, and chromosomal assignment of the human mitochondrial intermediate peptidase gene (MIPEP)

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The human homologue of the yeast mitochondrial AAA metalloprotease Yme1p complements a yeast yme1 disruptant

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial respiratory chain diseases and mutations in nuclear DNA: a promising start?

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The bacterial magnesium transporter CorA can functionally substitute for its putative homologue Mrs2p in the yeast inner mitochondrial membrane.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microbial magnesium transport: unusual transporters searching for identity

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mammalian mitochondrial intermediate peptidase: structure/function analysis of a new homologue from Schizophyllum commune and relationship to thimet oligopeptidases

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in mtDNA: are we scraping the bottom of the barrel?

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defects in mitochondrial respiratory complexes III and IV, and human pathologies.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemical and functional analysis of the YME1 gene product, an ATP and zinc-dependent mitochondrial protease from S. cerevisiae

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Degradation of Cytochrome Oxidase Subunits in Mutants of Yeast Lacking Cytochrome c and Suppression of the Degradation by Mutation of yme1

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nuclear functions required for cytochrome c oxidase biogenesis in Saccharomyces cerevisiae. Characterization of mutants in 34 complementation groups

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple genes, including a member of the AAA family, are essential for degradation of unassembled subunit 2 of cytochrome c oxidase in yeast mitochondria

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Amino-terminal octapeptides function as recognition signals for the mitochondrial intermediate peptidase

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel syndrome affecting multiple mitochondrial functions, located by microcell-mediated transfer to chromosome 2p14-2p13.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Oxa1p mediates the export of the N- and C-termini of pCoxII from the mitochondrial matrix to the intermembrane space

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The energy-transducing NADH: quinone oxidoreductase, complex I

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mrs2p is an essential component of the major electrophoretic Mg2+ influx system in mitochondria

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Membrane translocation of mitochondrially coded Cox2p: distinct requirements for export of N and C termini and dependence on the conserved protein Oxa1p

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435202

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/16435202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MIP1, a new yeast gene homologous to the rat mitochondrial intermediate peptidase gene, is required for oxidative metabolism in Saccharomyces cerevisiae

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The human mitochondrial Mrs2 protein functionally substitutes for its yeast homologue, a candidate magnesium transporter

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Oxa1 Protein Forms a Homooligomeric Complex and Is an Essential Part of the Mitochondrial Export Translocase inNeurospora crassa

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloning of a human gene involved in cytochrome oxidase assembly by functional complementation of an oxa1- mutation in Saccharomyces cerevisiae

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MAP-1 and IAP-1, two novel AAA proteases with catalytic sites on opposite membrane surfaces in mitochondrial inner membrane of Neurospora crassa

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Subacute necrotizing encephalomyelopathy in an infant

1 reference

https://pubmed.ncbi.nlm.nih.gov/16435202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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