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...
Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
American Society for Clinical investigation
2021-07-01
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Series: | JCI Insight |
Subjects: | |
Online Access: | https://doi.org/10.1172/jci.insight.148363 |