Structural and functional analyses of Barth syndrome-causing mutations and alternative splicing in the tafazzin acyltransferase domain

Tafazzin is a mitochondrial phospholipid transacylase, and its mutations cause Barth syndrome (BTHS). Human tafazzin gene produces four distinct alternatively spliced transcripts. To understand the molecular mechanisms of tafazzin deficiency, we performed an atomic resolution analysis of the influen...

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Detalles Bibliográficos
Autores principales: Hijikata, Atsushi, Yura, Kei, Ohara, Osamu, Go, Mitiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4412953/
https://www.ncbi.nlm.nih.gov/pubmed/25941633
http://dx.doi.org/10.1016/j.mgene.2015.04.001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4412953/
https://www.ncbi.nlm.nih.gov/pubmed/25941633
http://dx.doi.org/10.1016/j.mgene.2015.04.001

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