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De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy.
Hadjinicolaou A, Ngo KJ, Conway DY, Provias JP, Baker SK, Brady LI, Bennett CL, La Spada AR, Fogel BL, Yoon G. Hadjinicolaou A, et al. Among authors: la spada ar. Acta Neuropathol Commun. 2021 Dec 18;9(1):194. doi: 10.1186/s40478-021-01277-5. Acta Neuropathol Commun. 2021. PMID: 34922620 Free PMC article.
Protein interaction analysis of senataxin and the ALS4 L389S mutant yields insights into senataxin post-translational modification and uncovers mutant-specific binding with a brain cytoplasmic RNA-encoded peptide.
Bennett CL, Chen Y, Vignali M, Lo RS, Mason AG, Unal A, Huq Saifee NP, Fields S, La Spada AR. Bennett CL, et al. Among authors: la spada ar. PLoS One. 2013 Nov 11;8(11):e78837. doi: 10.1371/journal.pone.0078837. eCollection 2013. PLoS One. 2013. PMID: 24244371 Free PMC article.
Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients.
Bennett CL, Dastidar SG, Ling SC, Malik B, Ashe T, Wadhwa M, Miller DB, Lee C, Mitchell MB, van Es MA, Grunseich C, Chen Y, Sopher BL, Greensmith L, Cleveland DW, La Spada AR. Bennett CL, et al. Among authors: la spada ar. Acta Neuropathol. 2018 Sep;136(3):425-443. doi: 10.1007/s00401-018-1852-9. Epub 2018 May 3. Acta Neuropathol. 2018. PMID: 29725819 Free PMC article.
Clonally expanded CD8 T cells characterize amyotrophic lateral sclerosis-4.
Campisi L, Chizari S, Ho JSY, Gromova A, Arnold FJ, Mosca L, Mei X, Fstkchyan Y, Torre D, Beharry C, Garcia-Forn M, Jiménez-Alcázar M, Korobeynikov VA, Prazich J, Fayad ZA, Seldin MM, De Rubeis S, Bennett CL, Ostrow LW, Lunetta C, Squatrito M, Byun M, Shneider NA, Jiang N, La Spada AR, Marazzi I. Campisi L, et al. Among authors: la spada ar. Nature. 2022 Jun;606(7916):945-952. doi: 10.1038/s41586-022-04844-5. Epub 2022 Jun 22. Nature. 2022. PMID: 35732742 Free PMC article.
Author Correction: Clonally expanded CD8 T cells characterize amyotrophic lateral sclerosis-4.
Campisi L, Chizari S, Ho JSY, Gromova A, Arnold FJ, Mosca L, Mei X, Fstkchyan Y, Torre D, Beharry C, Garcia-Forn M, Jiménez-Alcázar M, Korobeynikov VA, Prazich J, Fayad ZA, Seldin MM, De Rubeis S, Bennett CL, Ostrow LW, Lunetta C, Squatrito M, Byun M, Shneider NA, Jiang N, La Spada AR, Marazzi I. Campisi L, et al. Among authors: la spada ar. Nature. 2022 Aug;608(7924):E34. doi: 10.1038/s41586-022-05184-0. Nature. 2022. PMID: 35945277 Free PMC article. No abstract available.
X-linked SBMA model mice display relevant non-neurological phenotypes and their expression of mutant androgen receptor protein in motor neurons is not required for neuromuscular disease.
Gromova A, Cha B, Robinson EM, Strickland LM, Nguyen N, ElMallah MK, Cortes CJ, La Spada AR. Gromova A, et al. Among authors: la spada ar. Acta Neuropathol Commun. 2023 Jun 2;11(1):90. doi: 10.1186/s40478-023-01582-1. Acta Neuropathol Commun. 2023. PMID: 37269008 Free PMC article.
176 results