Defining functional classes of Barth syndrome mutation in humans (Q28386747)

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31 May 2020

Eyal Gottlieb

11

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31 May 2020

Steven M. Claypool

13

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31 May 2020

Frederic M Vaz

12

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author name string

Ya-Wen Lu

1

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31 May 2020

Laura Galbraith

2

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31 May 2020

Jenny D Herndon

3

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31 May 2020

Ya-Lin Lu

4

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31 May 2020

Mia Pras-Raves

5

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31 May 2020

Martin Vervaart

6

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31 May 2020

Antoine Van Kampen

7

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31 May 2020

Angela Luyf

8

1 reference

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31 May 2020

J Michael McCaffery

10

1 reference

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31 May 2020

language of work or name

English

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publication date

1 May 2016

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published in

Human Molecular Genetics

1 reference

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31 May 2020

volume

25

1 reference

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31 May 2020

page(s)

1754-1770

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31 May 2020

issue

9

1 reference

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describes a project that uses

31 May 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4986330/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

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The topology and regulation of cardiolipin biosynthesis and remodeling in yeast

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Cardiolipin externalization to the outer mitochondrial membrane acts as an elimination signal for mitophagy in neuronal cells

20 March 2017

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Deacylation on the matrix side of the mitochondrial inner membrane regulates cardiolipin remodeling

20 March 2017

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20 March 2017

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Membrane remodeling induced by the dynamin-related protein Drp1 stimulates Bax oligomerization

20 March 2017

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The enigmatic role of tafazzin in cardiolipin metabolism

20 March 2017

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The translocator maintenance protein Tam41 is required for mitochondrial cardiolipin biosynthesis

20 March 2017

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The cardiolipin transacylase, tafazzin, associates with two distinct respiratory components providing insight into Barth syndrome

20 March 2017

1 reference

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The enzymatic function of tafazzin

20 March 2017

1 reference

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Mitochondrial mislocalization and altered assembly of a cluster of Barth syndrome mutant tafazzins

20 March 2017

1 reference

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Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients

20 March 2017

1 reference

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Taz1, an outer mitochondrial membrane protein, affects stability and assembly of inner membrane protein complexes: implications for Barth Syndrome

20 March 2017

1 reference

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Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986330

Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis

20 March 2017

1 reference

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Barth syndrome: TAZ gene mutations, mRNAs, and evolution

20 March 2017

1 reference

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Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986330

Functional reconstitution of human FcRn in Madin-Darby canine kidney cells requires co-expressed human beta 2-microglobulin

20 March 2017

1 reference

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Specific roles of protein-phospholipid interactions in the yeast cytochrome bc1 complex structure

20 March 2017

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Inhibition of cyclin D1 phosphorylation on threonine-286 prevents its rapid degradation via the ubiquitin-proteasome pathway

20 March 2017

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A novel X-linked gene, G4.5. is responsible for Barth syndrome

20 March 2017

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20 March 2017

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Mitochondrial phosphatase PTPMT1 is essential for cardiolipin biosynthesis

20 March 2017

1 reference

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20 March 2017

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20 March 2017

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Cardiolipin stabilizes respiratory chain supercomplexes

7 April 2017

1 reference

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7 April 2017

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Proteomic mapping of the human mitochondrial intermembrane space in live cells via ratiometric APEX tagging.

29 September 2017

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DNAJC19, a mitochondrial cochaperone associated with cardiomyopathy, forms a complex with prohibitins to regulate cardiolipin remodeling

29 September 2017

1 reference

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Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies

29 September 2017

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Unremodeled and remodeled cardiolipin are functionally indistinguishable in yeast

29 September 2017

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Barth syndrome: cellular compensation of mitochondrial dysfunction and apoptosis inhibition due to changes in cardiolipin remodeling linked to tafazzin (TAZ) gene mutation

29 September 2017

1 reference

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Seven functional classes of Barth syndrome mutation

29 September 2017

1 reference

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The physical state of lipid substrates provides transacylation specificity for tafazzin

29 September 2017

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Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

29 September 2017

1 reference

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Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

29 September 2017

1 reference

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Barth syndrome mutations that cause tafazzin complex lability

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986330

Mitochondrial cardiolipin involved in outer-membrane protein biogenesis: implications for Barth syndrome

29 September 2017

1 reference

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Coassembly of Mgm1 isoforms requires cardiolipin and mediates mitochondrial inner membrane fusion

29 September 2017

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Dietary omega-3 fatty acids alter cardiac mitochondrial phospholipid composition and delay Ca2+-induced permeability transition

29 September 2017

1 reference

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Cardiolipin, a critical determinant of mitochondrial carrier protein assembly and function.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986330

Respiratory active mitochondrial supercomplexes.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986330

Cardiolipin provides an essential activating platform for caspase-8 on mitochondria

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986330

Cardiolipin defines the interactome of the major ADP/ATP carrier protein of the mitochondrial inner membrane

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986330

Prohibitins control cell proliferation and apoptosis by regulating OPA1-dependent cristae morphogenesis in mitochondria

29 September 2017

1 reference

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Gluing the respiratory chain together. Cardiolipin is required for supercomplex formation in the inner mitochondrial membrane

29 September 2017

1 reference

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An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes

29 September 2017

1 reference

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Cardiolipin deficiency affects respiratory chain function and organization in an induced pluripotent stem cell model of Barth syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4986330

Molecular symmetry in mitochondrial cardiolipins

2 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDW046

Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDW046

Choline head groups stabilize the matrix loop regions of the ATP/ADP carrier ScAAC2.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDW046

Organelle isolation: functional mitochondria from mouse liver, muscle and cultured filroblasts

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26908608

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Biochemical properties of subsarcolemmal and interfibrillar mitochondria isolated from rat cardiac muscle

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26908608

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDW046

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26908608%20AND%20SRC:MED&resulttype=core&format=json

release_whfnt6a2mbd7fdx72whq4kxp4u

31 May 2020

Fatcat ID

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26908608%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference