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Secondary deficiency of neuraminidase 1 contributes to CNS pathology in neurological mucopolysaccharidoses via hypersialylation of brain glycoproteins.
Xu T, Heon-Roberts R, Moore T, Dubot P, Pan X, Guo T, Cairo CW, Holley R, Bigger B, Durcan TM, Levade T, Ausseil J, Amilhon B, Gorelik A, Nagar B, Sturiale L, Palmigiano A, Röckle I, Thiesler H, Hildebrandt H, Garozzo D, Pshezhetsky AV. Xu T, et al. Among authors: durcan tm. bioRxiv [Preprint]. 2024 Apr 27:2024.04.26.587986. doi: 10.1101/2024.04.26.587986. bioRxiv. 2024. PMID: 38712143 Free PMC article. Preprint.
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. Update in: Nat Commun. 2024 Aug 22;15(1):7239. doi: 10.1038/s41467-024-51310-z PMID: 38352438 Free PMC article. Updated. Preprint.
99 results