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English
Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations
scientific article
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Statements
instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
2821060
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15159508%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 December 2019
review article
1 reference
stated in
Europe PubMed Central
title
Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
2821060
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15159508%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 December 2019
main subject
patient
1 reference
based on heuristic
inferred from title
NADH:ubiquinone oxidoreductase core subunit S8
1 reference
stated in
GOA release 2020-03-11
NADH dehydrogenase activity
1 reference
stated in
GOA release 2020-03-11
mitochondrion
1 reference
based on heuristic
inferred from title
author
Vincent Procaccio
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
2821060
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15159508%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 December 2019
author name string
Douglas C Wallace
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
2821060
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15159508%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 December 2019
language of work or name
English
0 references
publication date
1 May 2004
1 reference
stated in
Europe PubMed Central
PMC publication ID
2821060
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15159508%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 December 2019
published in
Neurology
1 reference
stated in
Europe PubMed Central
PMC publication ID
2821060
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15159508%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 December 2019
volume
62
1 reference
stated in
Europe PubMed Central
PMC publication ID
2821060
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15159508%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 December 2019
issue
10
1 reference
stated in
Europe PubMed Central
PMC publication ID
2821060
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15159508%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 December 2019
page(s)
1899-1901
1 reference
stated in
Europe PubMed Central
PMC publication ID
2821060
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15159508%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 December 2019
cites work
Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821060
retrieved
19 March 2017
The first nuclear-encoded complex I mutation in a patient with Leigh syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821060
retrieved
19 March 2017
Respiratory chain complex I deficiency
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821060
retrieved
19 March 2017
Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821060
retrieved
27 September 2017
Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821060
retrieved
27 September 2017
Identification and characterization of a common set of complex I assembly intermediates in mitochondria from patients with complex I deficiency
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821060
retrieved
29 November 2018
Two EPR-detectable [4Fe-4S] clusters, N2a and N2b, are bound to the NuoI (TYKY) subunit of NADH:ubiquinone oxidoreductase (Complex I) from Rhodobacter capsulatus.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821060
retrieved
29 November 2018
Application of the obligate aerobic yeast Yarrowia lipolytica as a eucaryotic model to analyse Leigh syndrome mutations in the complex I core subunits PSST and TYKY
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/15159508
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Coordinate induction of energy gene expression in tissues of mitochondrial disease patients
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/15159508
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
The NuoI subunit of the Rhodobacter capsulatus respiratory Complex I (equivalent to the bovine TYKY subunit) is required for proper assembly of the membraneous and peripheral domains of the enzyme
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/15159508
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1212/01.WNL.0000125251.56131.65
1 reference
stated in
Europe PubMed Central
PMC publication ID
2821060
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15159508%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 December 2019
PMC publication ID
2821060
1 reference
stated in
Europe PubMed Central
PMC publication ID
2821060
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15159508%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 December 2019
PubMed publication ID
15159508
1 reference
stated in
Europe PubMed Central
PMC publication ID
2821060
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15159508%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 December 2019
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