Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum

By Williams Sin E.   Reed Anita A.C.   Galvanovskis Juris   Antignac Corinne   Goodship Tim   Karet Fiona E.   Kotanko Peter   Lhotta Karl   Morinire Vincent   Williams Paul   Wong William   Rorsman Patrik   Thakker Rajesh V.  

Human Molecular Genetics, Vol. 18, Iss. 16, 2009-08 ,pp. : 2963-2974

Oxford University Press

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Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome

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CADASIL mutations enhance spontaneous multimerization of NOTCH3

By Opherk Christian   Duering Marco   Peters Nils   Karpinska Anna   Rosner Stefanie   Schneider Elisabeth   Bader Benedikt   Giese Armin   Dichgans Martin  

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CADASIL mutations impair Notch3 glycosylation by Fringe

By Arboleda-Velasquez Joseph F.  

Human Molecular Genetics, Vol. 14, Iss. 12, 2005-06 ,pp. : 1631-1639

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Saethre–Chotzen mutations cause TWIST protein degradation or impaired nuclear location

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