Article

Dysregulation of NRAP degradation by KLHL41 contributes to pathophysiology in Nemaline Myopathy

2018-12-04

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-adapters for CUL3 E3 ubiquitin ligase to regulate protein turn-over through the ubiquitin-proteasome machin...

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Literature Corpus work: 33ba584a-afa7-5ef7-8f0a-1cff4a37c63c
DOI: 10.1101/487454

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