Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders

SARM1, a protein with critical NADase activity, is a central executioner in a conserved programme of axon degeneration. We report seven rare missense or in-frame microdeletion human SARM1 variant alleles in patients with amyotrophic lateral sclerosis (ALS) or other motor nerve disorders that alter t...

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Detalles Bibliográficos
Autores principales: Gilley, Jonathan, Jackson, Oscar, Pipis, Menelaos, Estiar, Mehrdad A, Al-Chalabi, Ammar, Danzi, Matt C, van Eijk, Kristel R, Goutman, Stephen A, Harms, Matthew B, Houlden, Henry, Iacoangeli, Alfredo, Kaye, Julia, Lima, Leandro, Ravits, John, Rouleau, Guy A, Schüle, Rebecca, Xu, Jishu, Züchner, Stephan, Cooper-Knock, Johnathan, Gan-Or, Ziv, Reilly, Mary M, Coleman, Michael P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2021
Materias:
Genetics and Genomics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8735862/
https://www.ncbi.nlm.nih.gov/pubmed/34796871
http://dx.doi.org/10.7554/eLife.70905

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8735862/
https://www.ncbi.nlm.nih.gov/pubmed/34796871
http://dx.doi.org/10.7554/eLife.70905

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