RING finger 1 mutations in Parkin produce altered localization of the protein

By Cookson Mark R.  

Human Molecular Genetics, Vol. 12, Iss. 22, 2003-11 ,pp. : 2957-2965

Oxford University Press

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The MachadoJoseph disease-associated mutant form of ataxin-3 regulates parkin ubiquitination and stability

By Durcan Thomas M.   Kontogiannea Maria   Thorarinsdottir Thorhildur   Fallon Lara   Williams Aislinn J.   Djarmati Ana   Fantaneanu Tadeu   Paulson Henry L.   Fon Edward A.  

Human Molecular Genetics, Vol. 20, Iss. 1, 2011-01 ,pp. : 141-154

Oxford University Press

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Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function

By Lobo Glenn P.   Waite Kristin A.   Planchon Sarah M.   Romigh Todd   Nassif Najah T.   Eng Charis  

Human Molecular Genetics, Vol. 18, Iss. 15, 2009-08 ,pp. : 2851-2862

Oxford University Press

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Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder

By Wise C.A.  

Human Molecular Genetics, Vol. 11, Iss. 8, 2002-04 ,pp. : 961-969

Oxford University Press

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Mutations in the Sulfonylurea Receptor Gene Are Associated with Familial Hyperinsulinism in Ashkenazi Jews

By Nestorowicz Ann   Wilson Beth Anne   Schoor Kathleen P.   Inoue Hiroshi   Glaser Benjamin   Landau Heddy   Stanley Charles A.   Thornton Paul S.   Clement John P.   Bryan Joseph   Aguilar-Bryan Lydia   Permutt M. Alan  

Human Molecular Genetics, Vol. 5, Iss. 11, 1996-11 ,pp. : 1813-1822

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