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Article

Myopathy-associated alphaB-crystallin mutants: abnormal phosphorylation, intracellular location, and interactions with other small heat shock proteins.

The Journal of biological chemistry - 23 Nov 2007

Simon Stephanie, Fontaine Jean-Marc, Martin Jody L, Sun Xiankui, Hoppe Adam D, Welsh Michael J, Benndorf Rainer, Vicart Patrick

Abstract excerpt

Three mutations (R120G, Q151X, and 464delCT) in the small heat shock protein alphaB-crystallin cause inherited myofibrillar myopathy. In an effort to elucidate the molecular basis for the associated myopathy, we have determined the following for these mutant alphaB-crystallin proteins: (i) the formation of aggregates in transfected cells; (ii) the partition into different subcellular fractions; (iii) the...

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PMID: 17897943
DOI: 10.1074/jbc.M703267200

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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