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English
Seven functional classes of Barth syndrome mutation
scientific article published on 24 October 2012
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scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
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
PMC publication ID
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
PMC publication ID
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
PMC publication ID
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
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stated in
Europe PubMed Central
PMC publication ID
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
PMC publication ID
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
PMC publication ID
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
PMC publication ID
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
PMC publication ID
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
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stated in
Europe PubMed Central
PMC publication ID
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
PMC publication ID
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
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Barth syndrome mutations that cause tafazzin complex lability
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Cardiac and skeletal muscle defects in a mouse model of human Barth syndrome
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Mitochondrial cardiolipin involved in outer-membrane protein biogenesis: implications for Barth syndrome
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Identification of a cardiolipin-specific phospholipase encoded by the gene CLD1 (YGR110W) in yeast
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30 September 2017
The cardiolipin transacylase, tafazzin, associates with two distinct respiratory components providing insight into Barth syndrome
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Cardiolipin defines the interactome of the major ADP/ATP carrier protein of the mitochondrial inner membrane
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The enzymatic function of tafazzin
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Comparison of lymphoblast mitochondria from normal subjects and patients with Barth syndrome using electron microscopic tomography
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Barth syndrome, a human disorder of cardiolipin metabolism
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Mitochondrial mislocalization and altered assembly of a cluster of Barth syndrome mutant tafazzins
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Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients
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30 September 2017
Taz1, an outer mitochondrial membrane protein, affects stability and assembly of inner membrane protein complexes: implications for Barth Syndrome
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30 September 2017
Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis
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The human TAZ gene complements mitochondrial dysfunction in the yeast taz1Delta mutant. Implications for Barth syndrome
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Phospholipid abnormalities in children with Barth syndrome
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PubMed Central
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30 September 2017
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Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism
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Barth syndrome may be due to an acyltransferase deficiency
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A novel X-linked gene, G4.5. is responsible for Barth syndrome
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28 June 2018
Two dimensional then layer chromatographic separation of polar lipids and determination of phospholipids by phosphorus analysis of spots
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606006
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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.
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5 September 2018
Molecular symmetry in mitochondrial cardiolipins
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PubMed Central
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Choline head groups stabilize the matrix loop regions of the ATP/ADP carrier ScAAC2.
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5 September 2018
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): respiratory-chain abnormalities in cultured fibroblasts
1 reference
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PubMed
reference URL
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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
PMC publication ID
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
PMC publication ID
3606006
1 reference
stated in
Europe PubMed Central
PMC publication ID
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 publication ID
23100323
1 reference
stated in
Europe PubMed Central
PMC publication ID
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
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