Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation

Mutations in HNRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare cause of amyotrophic lateral sclerosis (ALS) and multisystem proteinopathy (MSP). hnRNPA1 is part of the group of RNA-binding proteins (RBPs) that assemble with RNA to form RNPs. hnRNPs are concentrated in th...

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Detalles Bibliográficos
Autores principales: Beijer, Danique, Kim, Hong Joo, Guo, Lin, O’Donovan, Kevin, Mademan, Inès, Deconinck, Tine, Van Schil, Kristof, Fare, Charlotte M., Drake, Lauren E., Ford, Alice F., Kochański, Andrzej, Kabzińska, Dagmara, Dubuisson, Nicolas, Van den Bergh, Peter, Voermans, Nicol C., Lemmers, Richard J.L.F., van der Maarel, Silvère M., Bonner, Devon, Sampson, Jacinda B., Wheeler, Matthew T., Mehrabyan, Anahit, Palmer, Steven, De Jonghe, Peter, Shorter, James, Taylor, J. Paul, Baets, Jonathan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8410042/
https://www.ncbi.nlm.nih.gov/pubmed/34291734
http://dx.doi.org/10.1172/jci.insight.148363

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