The Tudor-domain protein TDRD7, mutated in congenital cataract, controls the heat shock protein HSPB1 (HSP27) and lens fiber cell morphology

Abstract Mutations of the RNA granule component TDRD7 (OMIM: 611258) cause pediatric cataract. We applied an integrated approach to uncover the molecular pathology of cataract in Tdrd7−/− mice. Early postnatal Tdrd7−/− animals precipitously develop cataract suggesting a global-level breakdown/misreg...

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Veröffentlicht in:Human molecular genetics 2020-07, Vol.29 (12), p.2076-2097
Hauptverfasser: Barnum, Carrie E, Al Saai, Salma, Patel, Shaili D, Cheng, Catherine, Anand, Deepti, Xu, Xiaolu, Dash, Soma, Siddam, Archana D, Glazewski, Lisa, Paglione, Emily, Polson, Shawn W, Chuma, Shinichiro, Mason, Robert W, Wei, Shuo, Batish, Mona, Fowler, Velia M, Lachke, Salil A
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Sprache:eng
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