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Page 1
Assessment of the Clinical Interactions of GAA Repeat Expansions in FGF14 and FXN.
Gerhart BJ, Pellerin D, Danzi MC, Zuchner S, Brais B, Matos-Rodrigues G, Nussenzweig A, Usdin K, Park CC, Napierala JS, Lynch DR, Napierala M. Gerhart BJ, et al. Among authors: nussenzweig a. Neurol Genet. 2024 Nov 20;10(6):e200210. doi: 10.1212/NXG.0000000000200210. eCollection 2024 Dec. Neurol Genet. 2024. PMID: 39574782 Free PMC article.
Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.
Pellerin D, Méreaux JL, Boluda S, Danzi MC, Dicaire MJ, Davoine CS, Genis D, Spurdens G, Ashton C, Hammond JM, Gerhart BJ, Chelban V, Le PU, Safisamghabadi M, Yanick C, Lee H, Nageshwaran SK, Matos-Rodrigues G, Jaunmuktane Z, Petrecca K, Akbarian S, Nussenzweig A, Usdin K, Renaud M, Bonnet C, Ravenscroft G, Saporta MA, Napierala JS, Houlden H, Deveson IW, Napierala M, Brice A, Molina Porcel L, Seilhean D, Zuchner S, Durr A, Brais B. Pellerin D, et al. Among authors: nussenzweig a. Brain. 2024 Oct 8:awae312. doi: 10.1093/brain/awae312. Online ahead of print. Brain. 2024. PMID: 39378335
Somatic instability of the FGF14 -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.
Pellerin D, Méreaux JL, Boluda S, Danzi MC, Dicaire MJ, Davoine CS, Genis D, Spurdens G, Ashton C, Hammond JM, Gerhart BJ, Chelban V, Le PU, Safisamghabadi M, Yanick C, Lee H, Nageshwaran SK, Matos-Rodrigues G, Jaunmuktane Z, Petrecca K, Akbarian S, Nussenzweig A, Usdin K, Renaud M, Bonnet C, Ravenscroft G, Saporta MA, Napierala JS, Houlden H, Deveson IW, Napierala M, Brice A, Molina Porcel L, Seilhean D, Zuchner S, Durr A, Brais B. Pellerin D, et al. Among authors: nussenzweig a. medRxiv [Preprint]. 2024 Jul 3:2024.07.01.24309777. doi: 10.1101/2024.07.01.24309777. medRxiv. 2024. Update in: Brain. 2024 Oct 08:awae312. doi: 10.1093/brain/awae312. PMID: 39006414 Free PMC article. Updated. Preprint.
HLTF disrupts Cas9-DNA post-cleavage complexes to allow DNA break processing.
Reginato G, Dello Stritto MR, Wang Y, Hao J, Pavani R, Schmitz M, Halder S, Morin V, Cannavo E, Ceppi I, Braunshier S, Acharya A, Ropars V, Charbonnier JB, Jinek M, Nussenzweig A, Ha T, Cejka P. Reginato G, et al. Among authors: nussenzweig a. Nat Commun. 2024 Jul 10;15(1):5789. doi: 10.1038/s41467-024-50080-y. Nat Commun. 2024. PMID: 38987539 Free PMC article.
Neuronal DNA repair reveals strategies to influence CRISPR editing outcomes.
Ramadoss GN, Namaganda SJ, Hamilton JR, Sharma R, Chow KG, Macklin BL, Sun M, Liu JC, Fellmann C, Watry HL, Jin J, Perez BS, Sandoval Espinoza CR, Matia MP, Lu SH, Judge LM, Nussenzweig A, Adamson B, Murthy N, Doudna JA, Kampmann M, Conklin BR. Ramadoss GN, et al. Among authors: nussenzweig a. bioRxiv [Preprint]. 2024 Jun 26:2024.06.25.600517. doi: 10.1101/2024.06.25.600517. bioRxiv. 2024. PMID: 38979269 Free PMC article. Preprint.
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.
Pellerin D, Del Gobbo GF, Couse M, Dolzhenko E, Nageshwaran SK, Cheung WA, Xu IRL, Dicaire MJ, Spurdens G, Matos-Rodrigues G, Stevanovski I, Scriba CK, Rebelo A, Roth V, Wandzel M, Bonnet C, Ashton C, Agarwal A, Peter C, Hasson D, Tsankova NM, Dewar K, Lamont PJ, Laing NG, Renaud M, Houlden H, Synofzik M, Usdin K, Nussenzweig A, Napierala M, Chen Z, Jiang H, Deveson IW, Ravenscroft G, Akbarian S, Eberle MA, Boycott KM, Pastinen T; All of Us Research Program Long Read Working Group; Brais B, Zuchner S, Danzi MC. Pellerin D, et al. Among authors: nussenzweig a. Nat Genet. 2024 Jul;56(7):1366-1370. doi: 10.1038/s41588-024-01808-5. Epub 2024 Jun 27. Nat Genet. 2024. PMID: 38937606
Structure and repair of replication-coupled DNA breaks.
Pavani R, Tripathi V, Vrtis KB, Zong D, Chari R, Callen E, Pankajam AV, Zhen G, Matos-Rodrigues G, Yang J, Wu S, Reginato G, Wu W, Cejka P, Walter JC, Nussenzweig A. Pavani R, et al. Among authors: nussenzweig a. Science. 2024 Aug 16;385(6710):eado3867. doi: 10.1126/science.ado3867. Epub 2024 Aug 16. Science. 2024. PMID: 38900911
240 results