| 1 | SLC25A46
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| Neuron-specific knockdown of solute carrier protein SLC25A46a induces locomotive defects, an abnormal neuron terminal morphology, learning disability, and shortened lifespan.
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| Ali MS, Suda K, Kowada R, Ueoka I, Yoshida H, Yamaguchi M.
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| IBRO Rep. Feb 19;8:65-75. doi: 10.1016/j.ibror.2020.02.001. eCollection 2020 Jun. 2020
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| 2 | HMN6B, SLC25A46
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| Insights into the genotype-phenotype correlation and molecular function of SLC25A46.
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| Abrams AJ, Fontanesi F, Tan NBL, Buglo E, Campeanu IJ, Rebelo AP, Kornberg AJ, Phelan DG, Stark Z, Zuchner S.
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| Hum Mutat. Dec;39(12):1995-2007. doi: 10.1002/humu.23639. Epub 2018 Sep 17. 2018
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| 3 | HMN6B, SLC25A46
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| Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice.
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| Li Z, Peng Y, Hufnagel RB, Hu YC, Zhao C, Queme LF, Khuchua Z, Driver AM, Dong F, Lu QR, Lindquist DM, Jankowski MP, Stottmann RW, Kao WWY, Huang T.
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| Hum Mol Genet. Oct 1;26(19):3776-3791. doi: 10.1093/hmg/ddx262. 2017
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| 4 | HMN6B, SLC25A46
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| Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder.
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| Nguyen M, Boesten I, Hellebrekers DM, Mulder-den Hartog NM, de Coo IF, Smeets HJ, Gerards M.
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| Clin Genet. Jan;91(1):121-125. doi: 10.1111/cge.12774. Epub 2016 Apr 8 2017
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| 5 | MFN2, OPA1, SLC25A46
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| SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome
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| Janer A, Prudent J, Paupe V, Fahiminiya S, Majewski J, Sgarioto N, Des Rosiers C, Forest A, Lin ZY, Gingras AC, Mitchell G, McBride HM, Shoubridge EA.
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| EMBO Mol Med. Sep 1;8(9):1019-38. doi: 10.15252/emmm.201506159. 2016
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| 6 | HMN6B, SLC25A46
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| SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy.
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| Charlesworth G, Balint B, Mencacci NE, Carr L, Wood NW, Bhatia KP.
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| Mov Disord. Aug;31(8):1249-51. doi: 10.1002/mds.26716. Epub 2016 Jul 19. 2016
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| 7 | HMN6B, IMMT, SLC25A46
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| Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder
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| Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez MA, Campeanu IJ, Griffin LB, Groenewald S, Strickland AV, Tao F, Speziani F, Abreu L, Schüle R, Caporali L, La Morgia C, Maresca A, Liguori R, Lodi R, Ahmed ZM, Sund KL, Wang X, Krueger LA, Peng Y, Prada CE, Prows CA, Schorry EK, Antonellis A, Zimmerman HH, Abdul-Rahman OA, Yang Y, Downes SM, Prince J, Fontanesi F, Barrientos A, Németh AH, Carelli V, Huang T, Zuchner S, Dallman JE.
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| Nat Genet. Aug;47(8):926-32. doi: 10.1038/ng.3354. Epub 2015 Jul 13. 2015
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| 8 | SLC25A33, SLC25A34, SLC25A37, SLC25A38, SLC25A39, SLC25A40, SLC25A41, SLC25A41, SLC25A42, SLC25A43, SLC25A44, SLC25A45, SLC25A46, UCP2
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| Fourteen novel human members of mitochondrial solute carrier family 25 (SLC25) widely expressed in the central nervous system.
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| Haitina T, Lindblom J, Renstrom T, Fredriksson R.
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| Genomics 88(6):779-90. Epub 2006 Sep 1. 2006
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| 9 | APC, FAP, REEP5, SLC25A46
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| Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients.
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| Nishisho I, Nakamura Y, Miyoshi Y, Miki Y, Ando H, Horii A, Koyama K, Utsunomiya J, Baba S, Hedge P.
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| Science 253(5020):665-9. 1991
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