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Survey of human mitochondrial diseases using new genomic/proteomic tools
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scholarly article
1 reference
stated in
Europe PubMed Central
PMCID
33397
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11423010%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
title
Survey of human mitochondrial diseases using new genomic/proteomic tools
(English)
1 reference
stated in
Europe PubMed Central
PMCID
33397
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11423010%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
author
Thomas N. Plasterer
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMCID
33397
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11423010%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
author name string
T F Smith
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMCID
33397
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11423010%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
S C Mohr
series ordinal
3
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stated in
Europe PubMed Central
PMCID
33397
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11423010%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
language of work or name
English
0 references
publication date
1 June 2001
1 reference
stated in
Europe PubMed Central
PMCID
33397
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11423010%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
published in
Genome Biology
1 reference
stated in
Europe PubMed Central
PMCID
33397
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11423010%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
volume
2
1 reference
stated in
Europe PubMed Central
PMCID
33397
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11423010%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
issue
6
1 reference
stated in
Europe PubMed Central
PMCID
33397
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11423010%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
page(s)
RESEARCH0021
1 reference
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Europe PubMed Central
PMCID
33397
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11423010%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
cites work
Friedreich ataxia: an overview
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=33397
retrieved
7 April 2017
The Protein Data Bank
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=33397
retrieved
7 April 2017
Human deafness dystonia syndrome is a mitochondrial disease
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=33397
retrieved
7 April 2017
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
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=33397
retrieved
7 April 2017
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
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=33397
retrieved
7 April 2017
A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness
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=33397
retrieved
7 April 2017
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain 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=33397
retrieved
7 April 2017
Basic local alignment search tool
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=33397
retrieved
7 April 2017
Raster3D: photorealistic molecular graphics
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=33397
retrieved
7 April 2017
Different import pathways through the mitochondrial intermembrane space for inner membrane proteins
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=33397
retrieved
7 April 2017
Mitochondrial intermediate peptidase and the yeast frataxin homolog together maintain mitochondrial iron homeostasis in Saccharomyces cerevisiae
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=33397
retrieved
7 April 2017
Prohibitins regulate membrane protein degradation by the m-AAA protease in mitochondria
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=33397
retrieved
7 April 2017
Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)
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=33397
retrieved
7 April 2017
A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy 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=33397
retrieved
7 April 2017
Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients
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=33397
retrieved
7 April 2017
Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia
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=33397
retrieved
7 April 2017
RASMOL: biomolecular graphics for all
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=33397
retrieved
7 April 2017
Close contacts with the endoplasmic reticulum as determinants of mitochondrial Ca2+ responses
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=33397
retrieved
7 April 2017
Analysis of compositionally biased regions in sequence databases
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=33397
retrieved
7 April 2017
Mitochondrial filaments and clusters as intracellular power-transmitting cables
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=33397
retrieved
28 September 2017
Mitochondrial respiratory chain disorders I: mitochondrial DNA defects
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=33397
retrieved
28 September 2017
MIPS: a database for genomes and protein sequences
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=33397
retrieved
28 September 2017
How membrane proteins travel across the mitochondrial intermembrane space
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=33397
retrieved
28 September 2017
The mitochondrial genome: structure, transcription, translation and replication
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=33397
retrieved
28 September 2017
MitBASE pilot: a database on nuclear genes involved in mitochondrial biogenesis and its regulation in Saccharomyces cerevisiae
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=33397
retrieved
28 September 2017
Using the Saccharomyces Genome Database (SGD) for analysis of protein similarities and structure
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=33397
retrieved
28 September 2017
The Yeast Proteome Database (YPD): a model for the organization and presentation of genome-wide functional data
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=33397
retrieved
28 September 2017
The SWISS-PROT protein sequence data bank and its supplement TrEMBL in 1999.
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=33397
retrieved
28 September 2017
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase 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=33397
retrieved
28 September 2017
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
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=33397
retrieved
28 September 2017
Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations
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=33397
retrieved
28 September 2017
Automatic generation of primary sequence patterns from sets of related protein sequences
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=33397
retrieved
28 September 2017
Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction
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=33397
retrieved
28 September 2017
Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases
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=33397
retrieved
28 September 2017
MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts
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=33397
retrieved
28 September 2017
Neurological presentations of mitochondrial diseases
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=33397
retrieved
28 September 2017
Thymidine phosphorylase, 2-deoxy-D-ribose and angiogenesis
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=33397
retrieved
30 May 2018
Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha 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=33397
retrieved
30 May 2018
Structural analysis based on state-space modeling
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=33397
retrieved
30 May 2018
Sticky DNA: self-association properties of long GAA.TTC repeats in R.R.Y triplex structures from Friedreich's ataxia.
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=33397
retrieved
28 November 2018
Getting to the nucleus of mitochondrial disorders: identification of respiratory chain-enzyme genes causing 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=33397
retrieved
28 November 2018
An ancestral mitochondrial DNA resembling a eubacterial genome in miniature.
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=33397
retrieved
28 November 2018
Protein classification by stochastic modeling and optimal filtering of amino-acid sequences.
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=33397
retrieved
28 November 2018
Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/11423010
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Structural characterization of thymidine phosphorylase purified from human placenta
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/11423010
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Mitochondrial disorders
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/11423010
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/11423010
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1186/GB-2001-2-6-RESEARCH0021
1 reference
stated in
Europe PubMed Central
PMCID
33397
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11423010%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
Dimensions Publication ID
1033009630
0 references
PMCID
33397
1 reference
stated in
Europe PubMed Central
PMCID
33397
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11423010%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
PubMed ID
11423010
1 reference
stated in
Europe PubMed Central
PMCID
33397
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11423010%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
ResearchGate publication ID
11917522
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