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Pattraranee Limphong on Muck Rack

Pattraranee Limphong

As seen in: The Journal of Biological Chemistry
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Articles

Human 343delT HSPB5 Chaperone associated with Early-onset Skeletal Myopathy causes Defects in Protein Solubility

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By Katie A. Mitzelfelt, Pattraranee Limphong, Melinda J. Choi, Shuping Lai, Kurt D. Kolander
| The Journal of Biological Chemistry Verified
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.
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