Article
Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation.
JCI insight - 22 Jul 2021
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 Jlf, 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
Abstract excerpt
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 the nucleus and function in pre-mRNA splicing, mRNA stability, and the regulation of transcription and translation....
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