Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand -glucocerebrosidase

By Blanz Judith   Groth Johann   Zachos Christina   Wehling Christina   Saftig Paul   Schwake Michael  

Human Molecular Genetics, Vol. 19, Iss. 4, 2010-02 ,pp. : 563-572

Oxford University Press

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Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase ( GCDH )

By Keyser Britta   Mhlhausen Chris   Dickmanns Achim   Christensen Ernst   Muschol Nicole   Ullrich Kurt   Braulke Thomas  

Human Molecular Genetics, Vol. 17, Iss. 24, 2008-12 ,pp. : 3854-3863

Oxford University Press

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Structural and functional analyses of disease-causing missense mutations in the forkhead domain of FOXC1

By Saleem Ramsey A.  

Human Molecular Genetics, Vol. 12, Iss. 22, 2003-11 ,pp. : 2993-3005

Oxford University Press

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Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane

By Chapple J. Paul   Hardcastle AlisonJ.  

Human Molecular Genetics, Vol. 9, Iss. 13, 2000-08 ,pp. : 1919-1926

Oxford University Press

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Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway

By Lupo Vincenzo   Galindo Mximo I.   Martnez-Rubio Dolores   Sevilla Teresa   Vlchez Juan J.   Palau Francesc   Espins Carmen  

Human Molecular Genetics, Vol. 18, Iss. 23, 2009-12 ,pp. : 4603-4614

Oxford University Press

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