Llwytho...

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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Meta Gene
Prif Awduron: Hijikata, Atsushi, Yura, Kei, Ohara, Osamu, Go, Mitiko
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2015
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4412953/
https://ncbi.nlm.nih.gov/pubmed/25941633
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mgene.2015.04.001
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