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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Disease-causing missense mutations in the PHEX gene interfere with membrane targeting of the recombinant protein

By Sabbagh Y.  

Human Molecular Genetics, Vol. 10, Iss. 15, 2001-07 ,pp. : 1539-1546

Oxford University Press

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The CMT4B disease-causing phosphatases Mtmr2 and Mtmr13 localize to the Schwann cell cytoplasm and endomembrane compartments, where they depend upon each other to achieve wild-type levels of protein expression

By Ng Aubree A.   Logan Anne M.   Schmidt Eric J.   Robinson Fred L.  

Human Molecular Genetics, Vol. 22, Iss. 8, 2013-04 ,pp. : 1493-1506

Oxford University Press

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Positive and negative feedback regulates the transcription factor FOXL2 in response to cell stress: evidence for a regulatory imbalance induced by disease-causing mutations

By Benayoun Brnice A.   Batista Frank   Auer Jana   Dipietromaria Aurlie   L'Hte David   De Baere Elfride   Veitia Reiner A.  

Human Molecular Genetics, Vol. 18, Iss. 4, 2009-02 ,pp. : 632-644

Oxford University Press

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True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product

By Rapic´-Otrin V.  

Human Molecular Genetics, Vol. 12, Iss. 13, 2003-07 ,pp. : 1507-1522

Oxford University Press

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