Human 343delT HSPB5 chaperone associated with early-onset skeletal myopathy causes defects in protein solubility.

Mutations of HSPB5 (also known as CRYAB or αB-crystallin), a bona fide heat shock protein and molecular chaperone encoded by the HSPB5 (crystallin, alpha B) gene, are linked to various multisystem disorders featuring variable combinations of cataracts, cardiomyopathy, and skeletal myopathy. This stu...

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Huvudupphovsmän:	Mitzelfelt, K, Limphong, P, Choi, M, Kondrat, F, Lai, S, Kolander, K, Kwok, W, Dai, Q, Grzybowski, M, Zhang, H, Taylor, G, Lui, Q, Thao, M, Hudson, J, Barresi, R, Bushby, K, Jungbluth, H, Wraige, E, Geurts, A, Benesch, J, Riedel, M, Christians, E, Minella, A, Benjamin, I
Materialtyp:	Journal article
Språk:	English
Publicerad:	American Society for Biochemistry and Molecular Biology 2016

Human 343delT HSPB5 chaperone associated with early-onset skeletal myopathy causes defects in protein solubility.

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