Citations for
1ATP5F1D, ATP5F1DD
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
Oláhová M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Frésard L, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BM; Undiagnosed Diseases Network, Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller DM, Metz TO, Morris AA, Schelley S, Cowan T, Friederich MW, McFarland R, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HJ, Bernstein JA, Wheeler MT.
Am J Hum Genet 102(3):494-504. doi: 10.1016/j.ajhg.2018.01.020. Epub 2018 Feb 22. 2018
2ATP5F1D
Proteomic profiling of the spinal cord in ALS: decreased ATP5D levels suggest synaptic dysfunction in ALS pathogenesis.
Engelen-Lee J, Blokhuis AM, Spliet WGM, Pasterkamp RJ, Aronica E, Demmers JAA, Broekhuizen R, Nardo G, Bovenschen N, Van Den Berg LH.
Amyotroph Lateral Scler Frontotemporal Degener 18(3-4):210-220. doi: 10.1080/21678421.2016.1245757. Epub 2016 Nov 29. 2017
3ATP5F1D, MPL
Identification of a new Mpl-interacting protein, Atp5d.
Liu H, Zhao Z, Zhong Y, Shan Y, Sun X, Mao B, Cong Y.
Mol Cell Biochem 391(1-2):85-94. doi: 10.1007/s11010-014-1990-x. Epub 2014 Mar 11. 2014
4ATP5F1D
Association of ATP synthase alpha-chain with neurofibrillary degeneration in Alzheimer's disease.
Sergeant N, Wattez A, Galvan-valencia M, Ghestem A, David JP, Lemoine J, Sautiere PE, Dachary J, Mazat JP, Michalski JC, Velours J, Mena-Lopez R, Delacourte A.
Neuroscience 117(2):293-303. 2003
5ATP5A1, ATP5AL1, ATP5B, ATP5C1, ATP5C2, ATP5F1D, SLC25A3
Chromosomal localization of genes required for the terminal steps of oxidative metabolism : alpha and gamma subunits of ATP synthase and the phosphate carrier.
Jabs EW, et al.
Hum Genet 93 : 600-602. 1994
6ATP5F1D
Molecular cloning of an import precursor of the delta-subunit of the human mitochondrial ATP synthase complex.
Jordan EM, Breen GA.
Biochim Biophys Acta 1130(1):123-6. 1992