Article

Myopathy mutations in DNAJB6 slow conformer specific substrate processing that is corrected by NEF modulation

2021-12-22

Abstract excerpt

Molecular chaperones, or heat shock proteins (HSPs), protect against the toxic misfolding and aggregation of proteins. As such, mutations or deficiencies within the chaperone network can lead to disease. In fact, dominant mutations in DNAJB6 (Hsp40/Sis1), an Hsp70 co-chaperone, leads to a protein aggregate myopathy termed Limb-Girdle Muscular Dystrophy Type D1 (LGMDD1). DNAJB6 client proteins and co-chaperone inte...

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Literature Corpus work: 36d591b6-4e0a-5e1d-9904-4191fc5e84ff
DOI: 10.1101/2021.12.22.473881

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