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Clinically relevant mouse models of Charcot-Marie-Tooth type 2S.
Martin PB, Holbrook SE, Hicks AN, Hines TJ, Bogdanik LP, Burgess RW, Cox GA. Martin PB, et al. Among authors: cox ga. Hum Mol Genet. 2023 Apr 6;32(8):1276-1288. doi: 10.1093/hmg/ddac283. Hum Mol Genet. 2023. PMID: 36413117 Free PMC article.
Poly-alanine-tailing is a modifier of neurodegeneration caused by Listerin mutation.
Hung HC, Costas-Insua C, Holbrook SE, Stauffer JE, Martin PB, Müller TA, Schroeder DG, Kigoshi-Tansho Y, Xu H, Rudolf R, Cox GA, Joazeiro CAP. Hung HC, et al. Among authors: cox ga. bioRxiv [Preprint]. 2024 Aug 24:2024.08.24.608776. doi: 10.1101/2024.08.24.608776. bioRxiv. 2024. PMID: 39229065 Free PMC article. Preprint.
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS.
Pottinger TD, Motelow JE, Povysil G, Moreno CAM, Ren Z, Phatnani H; New York Genome Center ALS Sequencing Consortium; Aitman TJ, Santoyo-Lopez J; Scottish Genomes Partnership; Mitsumoto H; ALS COSMOS Study Group; PLS COSMOS Study Group; GTAC Investigators; Goldstein DB, Harms MB. Pottinger TD, et al. BMC Genomics. 2024 Jun 29;25(1):651. doi: 10.1186/s12864-024-10538-1. BMC Genomics. 2024. PMID: 38951798 Free PMC article.
Author Correction: TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.
Brown AL, Wilkins OG, Keuss MJ, Hill SE, Zanovello M, Lee WC, Bampton A, Lee FCY, Masino L, Qi YA, Bryce-Smith S, Gatt A, Hallegger M, Fagegaltier D, Phatnani H; NYGC ALS Consortium; Newcombe J, Gustavsson EK, Seddighi S, Reyes JF, Coon SL, Ramos D, Schiavo G, Fisher EMC, Raj T, Secrier M, Lashley T, Ule J, Buratti E, Humphrey J, Ward ME, Fratta P. Brown AL, et al. Nature. 2024 Jul;631(8020):E7. doi: 10.1038/s41586-024-07577-9. Nature. 2024. PMID: 38890465 Free PMC article. No abstract available.
NOS1AP is a novel molecular target and critical factor in TDP-43 pathology.
Cappelli S, Spalloni A, Feiguin F, Visani G, Šušnjar U, Brown AL; NYGC ALS Consortium; De Bardi M, Borsellino G, Secrier M, Phatnani H, Romano M, Fratta P, Longone P, Buratti E. Cappelli S, et al. Brain Commun. 2022 Sep 23;4(5):fcac242. doi: 10.1093/braincomms/fcac242. eCollection 2022. Brain Commun. 2022. PMID: 36267332 Free PMC article.
123 results