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GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease.
Senkevich K, Zorca CE, Dworkind A, Rudakou U, Somerville E, Yu E, Ermolaev A, Nikanorova D, Ahmad J, Ruskey JA, Asayesh F, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Dupré N, Greenbaum L, Hassin-Baer S, Grenn FP, Chiang MSR, Sardi SP, Vanderperre B, Blauwendraat C, Trempe JF, Fon EA, Durcan TM, Alcalay RN, Gan-Or Z. Senkevich K, et al. Among authors: trempe jf. Brain. 2023 May 2;146(5):1859-1872. doi: 10.1093/brain/awac413. Brain. 2023. PMID: 36370000 Free PMC article.
Structure-based design and characterization of Parkin-activating mutations.
Stevens MU, Croteau N, Eldeeb MA, Antico O, Zeng ZW, Toth R, Durcan TM, Springer W, Fon EA, Muqit MM, Trempe JF. Stevens MU, et al. Among authors: trempe jf. Life Sci Alliance. 2023 Mar 20;6(6):e202201419. doi: 10.26508/lsa.202201419. Print 2023 Jun. Life Sci Alliance. 2023. PMID: 36941054 Free PMC 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: trempe jf. medRxiv [Preprint]. 2024 Jan 31:2022.08.23.22278845. doi: 10.1101/2022.08.23.22278845. medRxiv. 2024. PMID: 38352438 Free PMC article. Preprint.
Atypical binding of the Swa2p UBA domain to ubiquitin.
Matta-Camacho E, Kozlov G, Trempe JF, Gehring K. Matta-Camacho E, et al. Among authors: trempe jf. J Mol Biol. 2009 Feb 20;386(2):569-77. doi: 10.1016/j.jmb.2008.09.086. Epub 2008 Oct 11. J Mol Biol. 2009. PMID: 18948116
Reading the ubiquitin postal code.
Trempe JF. Trempe JF. Curr Opin Struct Biol. 2011 Dec;21(6):792-801. doi: 10.1016/j.sbi.2011.09.009. Epub 2011 Oct 27. Curr Opin Struct Biol. 2011. PMID: 22036065 Review.
79 results