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Article

Dysregulation of NRAP degradation by KLHL41 contributes to pathophysiology in nemaline myopathy

11 Apr 2019

Abstract excerpt

Nemaline myopathy (NM) is the most common form of congenital myopathy that results in hypotonia and muscle weakness. This disease is clinically and genetically heterogeneous, but three recently discovered genes in NM encode for members of the Kelch family of proteins. Kelch proteins act as substrate-specific adaptors for Cullin 3 (CUL3) E3 ubiquitin ligase to regulate protein turnover through the...

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PMID: 30986853
DOI: 10.1093/hmg/ddz078

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Dysregulation of NRAP degradation by KLHL41 contributes to pathophysiology in nemaline myopathyPMID 30986853Read ↗

Dysregulation of NRAP degradation by KLHL41 contributes to pathophysiology in Nemaline MyopathySemantic proximity Read ↗

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.Semantic proximity Read ↗

KLHL41 stabilizes skeletal muscle sarcomeres by nonproteolytic ubiquitination.Semantic proximity Read ↗

KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathySemantic proximity Read ↗

NRAP reduction rescues sarcomere defects in nebulin-related nemaline myopathy.Semantic proximity Read ↗

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.Semantic proximity Read ↗

KLHL41 orchestrates sarcomere assembly and size to drive skeletal muscle hypertrophy <i>in vivo</i>Semantic proximity Read ↗

Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onsetSemantic proximity Read ↗

Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function.Semantic proximity Read ↗

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Comprehensive phenotypic characterization of an allelic series of zebrafish models of NEB-related nemaline myopathy.Semantic proximity Read ↗

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