Article

DEFINING THE DIVERSITY OF HNRNPA1 MUTATIONS IN CLINICAL PHENOTYPE AND PATHOMECHANISM

2021-02-03

Abstract excerpt

<h4>ABSTRACT</h4> 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 ribonucleoproteins. hnRNPs are a major subclass of evolutionarily conserved RBPs that are primarily concentrated in the nucleus and ar...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: a047fd17-e2b2-509d-bdb1-d16c0ef1698b
DOI: 10.1101/2021.02.02.21250330

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

DEFINING THE DIVERSITY OF HNRNPA1 MUTATIONS IN CLINICAL PHENOTYPE AND PATHOMECHANISMDOI 10.1101/2021.02.02.21250330Read

Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation.Semantic proximity Read

Stress granule mediated protein aggregation and underlying gene defects in the FTD-ALS spectrumSemantic proximity Read

Role of RNA Binding Proteins with prion-like domains in muscle and neuromuscular diseasesSemantic proximity Read

Mechanistic View of hnRNPA2 Low-Complexity Domain Structure, Interactions, and Phase Separation Altered by Mutation and Arginine Methylation.Semantic proximity Read

Multisystem proteinopathy: Where myopathy and motor neuron disease converge.Semantic proximity Read

Heterogeneous Nuclear Ribonucleoproteins: Implications in Neurological DiseasesSemantic proximity Read

A mutation in the low-complexity domain of splicing factor hnRNPA1 linked to amyotrophic lateral sclerosis disrupts distinct neuronal RNA splicing networks.Semantic proximity Read

The nuclear localization sequence mediates hnRNPA1 amyloid fibril formation revealed by cryoEM structureSemantic proximity Read

Linking hnRNP Function to ALS and FTD PathologySemantic proximity Read

Pathological phase transitions in ALS-FTD impair dynamic RNA-protein granules.Semantic proximity Read

Isolated inclusion body myopathy caused by a multisystem proteinopathy–linked <i>hnRNPA1</i> mutationSemantic proximity Read

Genotype-phenotype association and functional analysis of hnRNPA1 mutations in amyotrophic lateral sclerosis.Semantic proximity Read