Article
Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features.
Proceedings of the National Academy of Sciences of the United States of America - 20 Sept 2016
Ouyang Qing, Nakayama Tojo, Baytas Ozan, Davidson Shawn M, Yang Chendong, Schmidt Michael, Lizarraga Sofia B, Mishra Sasmita, Ei-Quessny Malak, Niaz Saima, Gul Butt Mirrat, Imran Murtaza Syed, Javed Afzal, Chaudhry Haroon Rashid, Vaughan Dylan J, Hill R Sean, Partlow Jennifer N, Yoo Seung-Yun, Lam Anh-Thu N, Nasir Ramzi, Al-Saffar Muna, Barkovich A James, Schwede Matthew, Nagpal Shailender, Rajab Anna, DeBerardinis Ralph J, Housman David E, Mochida Ganeshwaran H, Morrow Eric M
Abstract excerpt
Mutations that cause neurological phenotypes are highly informative with regard to mechanisms governing human brain function and disease. We report autosomal recessive mutations in the enzyme glutamate pyruvate transaminase 2 (GPT2) in large kindreds initially ascertained for intellectual and developmental disability (IDD). GPT2 [also known as alanine transaminase 2 (ALT2)] is one of two related transaminases...
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