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Page 1
New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.
Bode A, Wood SE, Mullins JGL, Keramidas A, Cushion TD, Thomas RH, Pickrell WO, Drew CJG, Masri A, Jones EA, Vassallo G, Born AP, Alehan F, Aharoni S, Bannasch G, Bartsch M, Kara B, Krause A, Karam EG, Matta S, Jain V, Mandel H, Freilinger M, Graham GE, Hobson E, Chatfield S, Vincent-Delorme C, Rahme JE, Afawi Z, Berkovic SF, Howell OW, Vanbellinghen JF, Rees MI, Chung SK, Lynch JW. Bode A, et al. J Biol Chem. 2013 Nov 22;288(47):33745-33759. doi: 10.1074/jbc.M113.509240. Epub 2013 Oct 9. J Biol Chem. 2013. PMID: 24108130 Free PMC article. Clinical Trial.
GLRB is the third major gene of effect in hyperekplexia.
Chung SK, Bode A, Cushion TD, Thomas RH, Hunt C, Wood SE, Pickrell WO, Drew CJ, Yamashita S, Shiang R, Leiz S, Longardt AC, Raile V, Weschke B, Puri RD, Verma IC, Harvey RJ, Ratnasinghe DD, Parker M, Rittey C, Masri A, Lingappa L, Howell OW, Vanbellinghen JF, Mullins JG, Lynch JW, Rees MI. Chung SK, et al. Among authors: bode a. Hum Mol Genet. 2013 Mar 1;22(5):927-40. doi: 10.1093/hmg/dds498. Epub 2012 Nov 25. Hum Mol Genet. 2013. PMID: 23184146
Defining the impact of mutation accumulation on replicative lifespan in yeast using cancer-associated mutator phenotypes.
Lee MB, Dowsett IT, Carr DT, Wasko BM, Stanton SG, Chung MS, Ghodsian N, Bode A, Kiflezghi MG, Uppal PA, Grayden KA, Elala YC, Tang TT, Tran NHB, Tran THB, Diep AB, Hope M, Promislow DEL, Kennedy SR, Kaeberlein M, Herr AJ. Lee MB, et al. Among authors: bode a. Proc Natl Acad Sci U S A. 2019 Feb 19;116(8):3062-3071. doi: 10.1073/pnas.1815966116. Epub 2019 Feb 4. Proc Natl Acad Sci U S A. 2019. PMID: 30718408 Free PMC article.
614 results