Home
Random
Nearby
Log in
Settings
Donate
About Wikidata
Disclaimers
Search
(Q36709665)
Watch
English
Seven functional classes of Barth syndrome mutation
scientific article published on 24 October 2012
In more languages
edit
Statements
instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMCID
3606006
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23100323%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
title
Seven functional classes of Barth syndrome mutation
(English)
1 reference
stated in
Europe PubMed Central
PMCID
3606006
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23100323%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
main subject
Barth syndrome
1 reference
based on heuristic
inferred from title
author
Steven M. Claypool
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMCID
3606006
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23100323%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
author name string
Kevin Whited
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMCID
3606006
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23100323%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
Matthew G Baile
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMCID
3606006
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23100323%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
Pamela Currier
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMCID
3606006
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23100323%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
publication date
24 October 2012
1 reference
stated in
Europe PubMed Central
PMCID
3606006
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23100323%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
published in
Human Molecular Genetics
1 reference
stated in
Europe PubMed Central
PMCID
3606006
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23100323%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
volume
22
1 reference
stated in
Europe PubMed Central
PMCID
3606006
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23100323%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
issue
3
1 reference
stated in
Europe PubMed Central
PMCID
3606006
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23100323%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
page(s)
483-492
1 reference
stated in
Europe PubMed Central
PMCID
3606006
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23100323%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
cites work
Selective Oma1 protease-mediated proteolysis of Cox1 subunit of cytochrome oxidase in assembly mutants
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=3606006
retrieved
30 September 2017
The complexity of cardiolipin in health and 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=3606006
retrieved
30 September 2017
Cardiolipin affects the supramolecular organization of ATP synthase 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=3606006
retrieved
30 September 2017
Barth syndrome mutations that cause tafazzin complex lability
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=3606006
retrieved
30 September 2017
Making heads or tails of phospholipids 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=3606006
retrieved
30 September 2017
Characterization of a transgenic short hairpin RNA-induced murine model of Tafazzin 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=3606006
retrieved
30 September 2017
Cardiac and skeletal muscle defects in a mouse model of human Barth 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=3606006
retrieved
30 September 2017
A mitochondrial phosphatase required for cardiolipin biosynthesis: the PGP phosphatase Gep4.
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=3606006
retrieved
30 September 2017
Mitochondrial cardiolipin involved in outer-membrane protein biogenesis: implications for Barth 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=3606006
retrieved
30 September 2017
Protein quality control 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=3606006
retrieved
30 September 2017
Protein structure prediction on the Web: a case study using the Phyre server
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=3606006
retrieved
30 September 2017
Identification of a cardiolipin-specific phospholipase encoded by the gene CLD1 (YGR110W) in yeast
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=3606006
retrieved
30 September 2017
Distinct effects of tafazzin deletion in differentiated and undifferentiated 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=3606006
retrieved
30 September 2017
The cardiolipin transacylase, tafazzin, associates with two distinct respiratory components providing insight into Barth 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=3606006
retrieved
30 September 2017
Cardiolipin defines the interactome of the major ADP/ATP carrier protein of the mitochondrial inner membrane
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=3606006
retrieved
30 September 2017
The enzymatic function of tafazzin
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=3606006
retrieved
30 September 2017
Comparison of lymphoblast mitochondria from normal subjects and patients with Barth syndrome using electron microscopic tomography
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=3606006
retrieved
30 September 2017
Barth syndrome, a human disorder of cardiolipin metabolism
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=3606006
retrieved
30 September 2017
Mitochondrial mislocalization and altered assembly of a cluster of Barth syndrome mutant tafazzins
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=3606006
retrieved
30 September 2017
Mitochondrial respiratory chain supercomplexes are destabilized in Barth 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=3606006
retrieved
30 September 2017
Taz1, an outer mitochondrial membrane protein, affects stability and assembly of inner membrane protein complexes: implications for Barth 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=3606006
retrieved
30 September 2017
Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis
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=3606006
retrieved
30 September 2017
The human TAZ gene complements mitochondrial dysfunction in the yeast taz1Delta mutant. Implications for Barth 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=3606006
retrieved
30 September 2017
Phospholipid abnormalities in children with Barth 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=3606006
retrieved
30 September 2017
Aberrant cardiolipin metabolism in the yeast taz1 mutant: a model for Barth 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=3606006
retrieved
30 September 2017
Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism
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=3606006
retrieved
30 September 2017
The biosynthesis and functional role of cardiolipin
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=3606006
retrieved
30 September 2017
Phosphatidylglycerolphosphate synthase encoded by the PEL1/PGS1 gene in Saccharomyces cerevisiae is localized in mitochondria and its expression is regulated by phospholipid precursors
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=3606006
retrieved
30 September 2017
Barth syndrome may be due to an acyltransferase 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=3606006
retrieved
30 September 2017
A novel X-linked gene, G4.5. is responsible for Barth 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=3606006
retrieved
30 September 2017
Cardiolipin is synthesized on the matrix side of the inner membrane in rat liver 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=3606006
retrieved
30 September 2017
An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes
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=3606006
retrieved
30 September 2017
Loss of tafazzin in yeast leads to increased oxidative stress during respiratory growth
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=3606006
retrieved
28 June 2018
Two dimensional then layer chromatographic separation of polar lipids and determination of phospholipids by phosphorus analysis of spots.
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=3606006
retrieved
28 June 2018
Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth 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=3606006
retrieved
5 September 2018
Molecular symmetry in mitochondrial cardiolipins
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=3606006
retrieved
5 September 2018
Choline head groups stabilize the matrix loop regions of the ATP/ADP carrier ScAAC2.
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=3606006
retrieved
5 September 2018
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): respiratory-chain abnormalities in cultured fibroblasts
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23100323
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1093/HMG/DDS447
1 reference
stated in
Europe PubMed Central
PMCID
3606006
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23100323%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
PMCID
3606006
1 reference
stated in
Europe PubMed Central
PMCID
3606006
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23100323%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
PubMed ID
23100323
1 reference
stated in
Europe PubMed Central
PMCID
3606006
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23100323%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
Sitelinks
Wikipedia
(0 entries)
edit
Wikibooks
(0 entries)
edit
Wikinews
(0 entries)
edit
Wikiquote
(0 entries)
edit
Wikisource
(0 entries)
edit
Wikiversity
(0 entries)
edit
Wikivoyage
(0 entries)
edit
Wiktionary
(0 entries)
edit
Multilingual sites
(0 entries)
edit
