Article
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
American journal of human genetics - 1 Mar 2018
Oláhová Monika, Yoon Wan Hee, Thompson Kyle, Jangam Sharayu, Fernandez Liliana, Davidson Jean M, Kyle Jennifer E, Grove Megan E, Fisk Dianna G, Kohler Jennefer N, Holmes Matthew, Dries Annika M, Huang Yong, Zhao Chunli, Contrepois Kévin, Zappala Zachary, Frésard Laure, Waggott Daryl, Zink Erika M, Kim Young-Mo, Heyman Heino M, Stratton Kelly G, Webb-Robertson Bobbie-Jo M, Snyder Michael, Merker Jason D, Montgomery Stephen B, Fisher Paul G, Feichtinger René G, Mayr Johannes A, Hall Julie, Barbosa Ines A, Simpson Michael A, Deshpande Charu, Waters Katrina M, Koeller David M, Metz Thomas O, Morris Andrew A, Schelley Susan, Cowan Tina, Friederich Marisa W, McFarland Robert, Van Hove Johan L K, Enns Gregory M, Yamamoto Shinya, Ashley Euan A, Wangler Michael F, Taylor Robert W, Bellen Hugo J, Bernstein Jonathan A, Wheeler Matthew T
Abstract excerpt
ATP synthase, H+ transporting, mitochondrial F1 complex, δ subunit (ATP5F1D; formerly ATP5D) is a subunit of mitochondrial ATP synthase and plays an important role in coupling proton translocation and ATP production. Here, we describe two individuals, each with homozygous missense variants in ATP5F1D, who presented with episodic lethargy, metabolic acidosis, 3-methylglutaconic aciduria, and hyperammonemia....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.