Authors
Monika Oláhová, Wan Hee Yoon, Kyle Thompson, Sharayu Jangam, Liliana Fernandez, Jean M Davidson, Jennifer E Kyle, Megan E Grove, Dianna G Fisk, Jennefer N Kohler, Matthew Holmes, Annika M Dries, Yong Huang, Chunli Zhao, Kévin Contrepois, Zachary Zappala, Laure Frésard, Daryl Waggott, Erika M Zink, Young-Mo Kim, Heino M Heyman, Kelly G Stratton, Bobbie-Jo M Webb-Robertson, David R Adams, Mercedes E Alejandro, Patrick Allard, Mahshid S Azamian, Carlos A Bacino, Ashok Balasubramanyam, Hayk Barseghyan, Gabriel F Batzli, Alan H Beggs, Babak Behnam, Anna Bican, David P Bick, Camille L Birch, Devon Bonner, Braden E Boone, Bret L Bostwick, Lauren C Briere, Donna M Brown, Matthew Brush, Elizabeth A Burke, Lindsay C Burrage, Shan Chen, Gary D Clark, Terra R Coakley, Joy D Cogan, Cynthia M Cooper, Heidi Cope, William J Craigen, Precilla D’Souza, Mariska Davids, Jyoti G Dayal, Esteban C Dell’Angelica, Shweta U Dhar, Ani Dillon, Katrina M Dipple, Laurel A Donnell-Fink, Naghmeh Dorrani, Daniel C Dorset, Emilie D Douine, David D Draper, David J Eckstein, Lisa T Emrick, Christine M Eng, Ascia Eskin, Cecilia Esteves, Tyra Estwick, Carlos Ferreira, Brent L Fogel, Noah D Friedman, William A Gahl, Emily Glanton, Rena A Godfrey, David B Goldstein, Sarah E Gould, Jean-Philippe F Gourdine, Catherine A Groden, Andrea L Gropman, Melissa Haendel, Rizwan Hamid, Neil A Hanchard, Lori H Handley, Matthew R Herzog, Ingrid A Holm, Jason Hom, Ellen M Howerton, Howard J Jacob, Mahim Jain, Yong-hui Jiang, Jean M Johnston, Angela L Jones, Isaac S Kohane, Donna M Krasnewich, Elizabeth L Krieg, Joel B Krier, Seema R Lalani, C Christopher Lau, Jozef Lazar, Brendan H Lee, Hane Lee, Shawn E Levy, Richard A Lewis, Sharyn A Lincoln, Allen Lipson, Sandra K Loo, Joseph Loscalzo, Richard L Maas, Ellen F Macnamara, Calum A MacRae, Valerie V Maduro, Marta M Majcherska, May Christine V Malicdan, Laura A Mamounas, Teri A Manolio, Thomas C Markello, Ronit Marom, Julian A Martínez-Agosto, Shruti Marwaha, Thomas May, Allyn McConkie-Rosell, Colleen E McCormack, Alexa T McCray, Matthew Might, Paolo M Moretti, Marie Morimoto, John J Mulvihill, Jennifer L Murphy, Donna M Muzny, Michele E Nehrebecky, Stan F Nelson, J Scott Newberry, John H Newman, Sarah K Nicholas, Donna Novacic, Jordan S Orange, J Carl Pallais, Christina GS Palmer, Jeanette C Papp, Neil H Parker, Loren DM Pena, John A Phillips, Jennifer E Posey, John H Postlethwait, Lorraine Potocki, Barbara N Pusey, Chloe M Reuter, Amy K Robertson, Lance H Rodan
Publication date
2018/3/1
Journal
The American Journal of Human Genetics
Volume
102
Issue
3
Pages
494-504
Publisher
Elsevier
Description
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. Subject 1, homozygous for c.245C>T (p.Pro82Leu), presented with recurrent metabolic decompensation starting in the neonatal period, and subject 2, homozygous for c.317T>G (p.Val106Gly), presented with acute encephalopathy in childhood. Cultured skin fibroblasts from these individuals exhibited impaired assembly of F1FO ATP synthase and subsequent reduced complex V activity. Cells from subject 1 also exhibited a significant decrease in mitochondrial cristae. Knockdown of Drosophila …
Scholar articles
M Oláhová, WH Yoon, K Thompson, S Jangam… - The American Journal of Human Genetics, 2018