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Page 1
The cycle of SEC4 function in vesicular transport.
Novick P, Brennwald P, Walworth NC, Kabcenell AK, Garrett M, Moya M, Roberts D, Müller H, Govindan B, Bowser R. Novick P, et al. Among authors: bowser r. Ciba Found Symp. 1993;176:218-28; discussion 229-32. Ciba Found Symp. 1993. PMID: 8299422 Review.
CRISPR-mediated gene correction links the ATP7A M1311V mutations with amyotrophic lateral sclerosis pathogenesis in one individual.
Yun Y, Hong SA, Kim KK, Baek D, Lee D, Londhe AM, Lee M, Yu J, McEachin ZT, Bassell GJ, Bowser R, Hales CM, Cho SR, Kim J, Pae AN, Cheong E, Kim S, Boulis NM, Bae S, Ha Y. Yun Y, et al. Among authors: bowser r. Commun Biol. 2020 Jan 20;3(1):33. doi: 10.1038/s42003-020-0755-1. Commun Biol. 2020. PMID: 31959876 Free PMC article.
The M1311V variant of ATP7A is associated with impaired trafficking and copper homeostasis in models of motor neuron disease.
Bakkar N, Starr A, Rabichow BE, Lorenzini I, McEachin ZT, Kraft R, Chaung M, Macklin-Isquierdo S, Wingfield T, Carhart B, Zahler N, Chang WH, Bassell GJ, Betourne A, Boulis N, Alworth SV, Ichida JK, August PR, Zarnescu DC, Sattler R, Bowser R. Bakkar N, et al. Among authors: bowser r. Neurobiol Dis. 2021 Feb;149:105228. doi: 10.1016/j.nbd.2020.105228. Epub 2020 Dec 24. Neurobiol Dis. 2021. PMID: 33359139 Free PMC article.
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH Jr, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ; FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium; Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink JH, van … See abstract for full author list ➔ Johnson JO, et al. Among authors: bowser r. JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. JAMA Neurol. 2021. PMID: 34459874 Free PMC article.
247 results