Journal article icon

Journal article

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

Abstract:

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 study aims at investigating the pathological mechanisms involved in an early onset myofibrillar myopathy manifesting in a child harboring a homozygous recessive mutation in HSPB5, 343delT. To study HS...

Expand abstract
Publication status:
Published
Peer review status:
Peer reviewed
Version:
Accepted manuscript

Actions


Access Document


Files:
Publisher copy:
10.1074/jbc.M116.730481

Authors


Mitzelfelt, KA More by this author
Limphong, P More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MPLS, Chemistry
Expand authors...
More from this funder
Funding agency for:
Benesch, JL
Publisher:
American Society for Biochemistry and Molecular Biology Publisher's website
Journal:
Journal of Biological Chemistry Journal website
Publication date:
2016-05-19
DOI:
EISSN:
1083-351X
ISSN:
0021-9258
URN:
uuid:990a4581-1a16-4e92-9e3e-a9e876b375d9
Source identifiers:
625087
Local pid:
pubs:625087

Terms of use


Metrics



If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP