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Generation of patient-derived pluripotent stem cell-lines and CRISPR modified isogenic controls with mutations in the Parkinson's associated GBA gene.
X-Q Chen C, Deneault E, Abdian N, You Z, Sirois J, Nicouleau M, Shlaifer I, Villegas L, Boivin MN, Gaborieau L, Karamchandani J, Beitel LK, Fon EA, Durcan TM. X-Q Chen C, et al. Among authors: durcan tm. Stem Cell Res. 2022 Oct;64:102919. doi: 10.1016/j.scr.2022.102919. Epub 2022 Sep 15. Stem Cell Res. 2022. PMID: 36130446 Free article.
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.
Banks E, Francis V, Lin SJ, Kharfallah F, Fonov V, Levesque M, Han C, Kulasekaran G, Tuznik M, Bayati A, Al-Khater R, Alkuraya FS, Argyriou L, Babaei M, Bahlo M, Bakhshoodeh B, Barr E, Bartik L, Bassiony M, Bertrand M, Braun D, Buchert R, Budetta M, Cadieux-Dion M, Calame D, Cope H, Cushing D, Efthymiou S, Elmaksoud MA, El Said HG, Froukh T, Gill HK, Gleeson JG, Gogoll L, Goh ES, Gowda VK, Haack TB, Hashem MO, Hauser S, Hoffman TL, Hogue JS, Hosokawa A, Houlden H, Huang K, Huynh S, Karimiani EG, Kaulfuß S, Korenke GC, Kritzer A, Lee H, Lupski JR, Marco EJ, McWalter K, Minassian A, Minassian BA, Murphy D, Neira-Fresneda J, Northrup H, Nyaga D, Oehl-Jaschkowitz B, Osmond M, Person R, Pehlivan D, Petree C, Sadleir LG, Saunders C, Schoels L, Shashi V, Spillman RC, Srinivasan VM, Torbati PN, Tos T; Undiagnosed Diseases Network; Zaki MS, Zhou D, Zweier C, Trempe JF, Durcan TM, Gan-Or Z, Avoli M, Alves C, Varshney GK, Maroofian R, Rudko DA, McPherson PS. Banks E, et al. Among authors: durcan tm. medRxiv [Preprint]. 2024 Jan 31:2022.08.23.22278845. doi: 10.1101/2022.08.23.22278845. medRxiv. 2024. PMID: 38352438 Free PMC article. Preprint.
USP8 and PARK2/parkin-mediated mitophagy.
Durcan TM, Fon EA. Durcan TM, et al. Autophagy. 2015;11(2):428-9. doi: 10.1080/15548627.2015.1009794. Autophagy. 2015. PMID: 25700639 Free PMC article.
87 results