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Article

Muscleblind acts as a modifier of FUS toxicity by modulating stress granule dynamics and SMN localization.

Nature communications - 6 Dec 2019

Casci Ian, Krishnamurthy Karthik, Kour Sukhleen, Tripathy Vadreenath, Ramesh Nandini, Anderson Eric N, Marrone Lara, Grant Rogan A, Oliver Stacie, Gochenaur Lauren, Patel Krishani, Sterneckert Jared, Gleixner Amanda M, Donnelly Christopher J, Ruepp Marc-David, Sini Antonella M, Zuccaro Emanuela, Pennuto Maria, Pasinelli Piera, Pandey Udai Bhan

Abstract excerpt

Mutations in fused in sarcoma (FUS) lead to amyotrophic lateral sclerosis (ALS) with varying ages of onset, progression and severity. This suggests that unknown genetic factors contribute to disease pathogenesis. Here we show the identification of muscleblind as a novel modifier of FUS-mediated neurodegeneration in vivo. Muscleblind regulates cytoplasmic mislocalization of mutant FUS and subsequent accumulation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 31811140
DOI: 10.1038/s41467-019-13383-z
PMCID: PMC6898697

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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