Article
Altered aggregation properties of mutant gamma-crystallins cause inherited cataract.
The EMBO journal - 15 Nov 2002
Sandilands Aileen, Hutcheson Aileen M, Long Heather A, Prescott Alan R, Vrensen Gijs, Löster Jana, Klopp Norman, Lutz Raimund B, Graw Jochen, Masaki Shigeo, Dobson Christopher M, MacPhee Cait E, Quinlan Roy A
Abstract excerpt
Protein inclusions are associated with a diverse group of human diseases ranging from localized neurological disorders through to systemic non-neuropathic diseases. Here, we present evidence that the formation of intranuclear inclusions is a key event in cataract formation involving altered gamma-crystallins that are un likely to adopt their native fold. In three different inherited murine cataracts involving...
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