Tafazzin splice variants and mutations in Barth syndrome-Reference-Cited by-同舟云学术

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Tafazzin splice variants and mutations in Barth syndrome

Published:2014-01 Issue:1 Volume:111 Page:26-32
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Kirwin Susan M.,Manolakos Athena,Barnett Sarah Swain,Gonzalez Iris L.

Funder

Barth Syndrome Foundation

The Nemours Foundation

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference38 articles.

1. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes;Barth;J. Neurol. Sci.,1983

2. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update;Barth;Am. J. Med. Genet. A,2004

3. Cardiac and clinical phenotype in Barth syndrome;Spencer;Pediatrics,2006

4. Comparison of lymphoblast mitochondria from normal subjects and patients with Barth syndrome using electron microscopic tomography;Acehan;Lab. Invest.,2007

5. The Barth Syndrome Registry: distinguishing disease characteristics and growth data from a longitudinal study;Roberts;Am. J. Med. Genet. A,2012

Cited by 21 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A novel panel of Drosophila TAFAZZIN mutants in distinct genetic backgrounds as a resource for therapeutic testing;PLOS ONE;2023-09-27

2. A case of infantile Barth syndrome with severe heart failure: Importance of splicing variants in the TAZ gene;Molecular Genetics & Genomic Medicine;2023-04-25

3. Analysis of tafazzin and deoxyribonuclease 1 like 1 transcripts and X chromosome sequencing in the evaluation of the effect of mosaicism in the TAZ gene on phenotypes in a family affected by Barth syndrome;Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis;2023-01

4. Tafazzin Mutation Affecting Cardiolipin Leads to Increased Mitochondrial Superoxide Anions and Mitophagy Inhibition in Barth Syndrome;Cells;2020-10-21

5. The Function of Tafazzin, a Mitochondrial Phospholipid–Lysophospholipid Acyltransferase;Journal of Molecular Biology;2020-08

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