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PAPER Álvarez Jerez P, Wild Crea P, Ramos DM, Gustavsson EK, Radefeldt M, Damianov A, Makarious MB, Ojo OO, Billingsley KJ, Malik L, Daida K, Bromberek S, Hu F, Schneider Z, Surapaneni AL, Stadler J, Rizig M, Morris HR, Pantazis CB, Leonard HL, Screven L, Qi YA, Nalls MA, Bandres-Ciga S, Hardy J, Houlden H, Eng C, Burchard EG, Kachuri L, Lin CH, Black DL, Global Parkinson’s Genetics Program (GP2), Singleton AB, Fischer S, Bauer P, Reed X, Ryten M, Beetz C, Ward M, Okubadejo NU, Blauwendraat C

African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1.

Nat Struct Mol Biol. 2024 Dec;31(12):1955-1963. Epub 2024 Dec 12 PubMed.

PAPER Mirceta M, Schmidt MH, Shum N, Prasolava TK, Meikle B, Lanni S, Mohiuddin M, McKeever PM, Zhang M, Liang M, van der Werf I, Scheers S, Dion PA, Wang P, Wilson MD, Abell T, Philips EA, Sznajder ŁJ, Swanson MS, Mehkary M, Khan M, Yokoi K, Jung C, de Jong PJ, Freudenreich CH, McGoldrick P, Yuen RK, Abrahão A, Keith J, Zinman L, Robertson J, Rogaeva E, Rouleau GA, Kooy RF, Pearson CE

C9orf72 repeat expansion creates the unstable folate-sensitive fragile site FRA9A.

NAR Mol Med. 2024 Oct;1(4):ugae019. Epub 2024 Nov 12 PubMed.

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