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Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegia.
Allison R, Edgar JR, Pearson G, Rizo T, Newton T, Günther S, Berner F, Hague J, Connell JW, Winkler J, Lippincott-Schwartz J, Beetz C, Winner B, Reid E. Allison R, et al. Among authors: reid e. J Cell Biol. 2017 May 1;216(5):1337-1355. doi: 10.1083/jcb.201609033. Epub 2017 Apr 7. J Cell Biol. 2017. PMID: 28389476 Free PMC article.
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.
Rodger C, Flex E, Allison RJ, Sanchis-Juan A, Hasenahuer MA, Cecchetti S, French CE, Edgar JR, Carpentieri G, Ciolfi A, Pantaleoni F, Bruselles A; Genomics England Research Consortium; Onesimo R, Zampino G, Marcon F, Siniscalchi E, Lees M, Krishnakumar D, McCann E, Yosifova D, Jarvis J, Kruer MC, Marks W, Campbell J, Allen LE, Gustincich S, Raymond FL, Tartaglia M, Reid E. Rodger C, et al. Among authors: reid e. Am J Hum Genet. 2020 Dec 3;107(6):1129-1148. doi: 10.1016/j.ajhg.2020.10.012. Epub 2020 Nov 12. Am J Hum Genet. 2020. PMID: 33186545 Free PMC article.
625 results