Associated Papers
Cytoplasmic accumulation of a splice variant of hnRNPA2/B1 contributes to FUS-associated toxicity in a mouse model of ALS.
Rossi S et al.
Cell Death & Disease, 2025
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
Localized molecular chaperone synthesis maintains neuronal dendrite proteostasis.
Alecki C et al.
Nature Communications, 2024
Dominantly inherited muscle disorders: understanding their complexity and exploring therapeutic approaches.
Findlay AR
Disease Models & Mechanisms, 2024
Decoding Missense Variants by Incorporating Phase Separation via Machine Learning.
Feng M et al.
Nature Communications, 2024
Nuclear-import receptors as gatekeepers of pathological phase transitions in ALS/FTD.
Khalil B et al.
Molecular Neurodegeneration, 2024
Localized molecular chaperone synthesis maintains neuronal dendrite proteostasis.
Ugalde MV et al.
Research Square, 2023
Dysregulation of alternative splicing underlies synaptic defects in familial amyotrophic lateral sclerosis.
Verdile V et al.
Progress in Neurobiology, 2023
Simple models to understand complex disease: 10 years of progress from Caenorhabditis elegans models of amyotrophic lateral sclerosis and frontotemporal lobar degeneration.
Eck RJ et al.
Frontiers in Neuroscience, 2023
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Kim HJ et al.
Nature Communications, 2022
Persistent mRNA localization defects and cell death in ALS neurons caused by transient cellular stress.
Markmiller S et al.
Cell Reports, 2021
The roles of hnRNP A2/B1 in RNA biology and disease.
Liu Y et al.
Wiley Interdisciplinary Reviews. Rna, 2021
The role of hnRNPs in frontotemporal dementia and amyotrophic lateral sclerosis.
Bampton A et al.
Acta Neuropathologica, 2020
Molecular Mechanisms and Future Therapeutics for Spinocerebellar Ataxia Type 31 (SCA31).
Ishikawa K et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2019
Rare Inherited forms of Paget's Disease and Related Syndromes.
Ralston SH et al.
Calcified Tissue International, 2019
Disruption of protein function by pathogenic mutations: common and uncommon mechanisms 1.
Taipale M
Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2019
Context-Dependent and Disease-Specific Diversity in Protein Interactions within Stress Granules.
Markmiller S et al.
Cell, 2018
Focus on the Role of D-serine and D-amino Acid Oxidase in Amyotrophic Lateral Sclerosis/Motor Neuron Disease (ALS).
Kondori NR et al.
Frontiers in Molecular Biosciences, 2018
Genetic mutations in RNA-binding proteins and their roles in ALS.
Kapeli K et al.
Human Genetics, 2017
Regulatory Role of RNA Chaperone TDP-43 for RNA Misfolding and Repeat-Associated Translation in SCA31.
Ishiguro T et al.
Neuron, 2017
Protein-RNA Networks Regulated by Normal and ALS-Associated Mutant HNRNPA2B1 in the Nervous System.
Martinez FJ et al.
Neuron, 2016
Genetic interaction of hnRNPA2B1 and DNAJB6 in a Drosophila model of multisystem proteinopathy.
Li S et al.
Human Molecular Genetics, 2016
Evolutionarily conserved heterogeneous nuclear ribonucleoprotein (hnRNP) A/B proteins functionally interact with human and Drosophila TAR DNA-binding protein 43 (TDP-43).
Romano M et al.
The Journal of Biological Chemistry, 2014
Motor neuron involvement in multisystem proteinopathy: implications for ALS.
Benatar M et al.
Neurology, 2013
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.
Kim HJ et al.
Nature, 2013
Disease mutations in the prion-like domains of hnRNPA1 and hnRNPA2/B1 introduce potent steric zippers that drive excess RNP granule assembly.
Shorter J et al.
Rare Diseases (austin, Tex.), 2013