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

Author： 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.  

Publisher： Oxford University Press

ISSN： 1460-2083

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

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

Mutations in NOTCH3 cause the formation and retention of aggregates in the endoplasmic reticulum, leading to impaired cell proliferation

By Takahashi Keikichi   Adachi Kayo   Yoshizaki Kaichi   Kunimoto Shohko   Kalaria Raj N.   Watanabe Atsushi  

Human Molecular Genetics, Vol. 19, Iss. 1, 2010-01 ,pp. : 79-89

Oxford University Press

Access to resources Recommend Favorite

Mutations in the palmitoyl-protein thioesterase gene ( PPT ; CLN1 ) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits

By Taschner P.E.M.  

Human Molecular Genetics, Vol. 7, Iss. 2, 1998-02 ,pp. : 291-297

Oxford University Press

Access to resources Recommend Favorite

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

By Yen P.M.  

Human Molecular Genetics, Vol. 11, Iss. 21, 2002-10 ,pp. : 2625-2633

Oxford University Press

Access to resources Recommend Favorite

Huntingtin Interacting Protein 1 mutations lead to abnormal hematopoiesis, spinal defects and cataracts

By Oravecz-Wilson Katherine I.   Kiel Mark J.   Li Lina   Rao Dinesh S.   Saint-Dic Djenann   Kumar Priti D.   Provot Melissa M.   Hankenson Kurt D.   Reddy Venkat N.   Lieberman Andrew P.   Morrison Sean J.   Ross Theodora S.  

Human Molecular Genetics, Vol. 13, Iss. 8, 2004-04 ,pp. : 851-867

Oxford University Press

Access to resources Recommend Favorite

Mechanisms causing imprinting defects in familial BeckwithWiedemann syndrome with Wilms' tumour

By Sparago Angela   Russo Silvia   Cerrato Flavia   Ferraiuolo Serena   Castorina Pierangela   Selicorni Angelo   Schwienbacher Christine   Negrini Massimo   Ferrero Giovanni Battista   Silengo Margherita Cirillo   Anichini Cecilia   Larizza Lidia   Riccio Andrea  

Human Molecular Genetics, Vol. 16, Iss. 3, 2007-02 ,pp. : 254-264

Oxford University Press

Access to resources Recommend Favorite