Dystonia-associated mutations cause premature degradation of torsinA protein and cell-type-specific mislocalization to the nuclear envelope

By Giles Lisa M.   Chen Jue   Li Lian   Chin Lih-Shen  

Human Molecular Genetics, Vol. 17, Iss. 17, 2008-09 ,pp. : 2712-2722

Oxford University Press

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Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells

By Hewett Jeffrey   Gonzalez-Agosti Charo   Slater Damien   Ziefer Philipp   Li Sang   Bergeron Daniele   Jacoby David J.   Ozelius Laurie J.   Ramesh Vijaya   Breakefield Xandra O.  

Human Molecular Genetics, Vol. 9, Iss. 9, 2000-05 ,pp. : 1403-1413

Oxford University Press

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PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity

By Monnier Carine   Dod Catherine   Fabre Ludovic   Teixeira Luis   Labesse Gilles   Pin Jean-Philippe   Hardelin Jean-Pierre   Rondard Philippe  

Human Molecular Genetics, Vol. 18, Iss. 1, 2009-01 ,pp. : 75-81

Oxford University Press

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Genomic Screening for β-Sarcoglycan Gene Mutations: Missense Mutations May Cause Severe Limb-girdle Muscular Dystrophy Type 2E (LGMD 2E)

By Bönnemann Carsten G.   Passos-Bueno M. Rita   McNally Elizabeth M.   Vainzof Mariz   Moreira Eloísa de Sá   Marie Suely K.   Pavanello Rita C. M.   Noguchi Satoru   Ozawa Eijiro   Zatz Mayana   Kunkel Louis M.  

Human Molecular Genetics, Vol. 5, Iss. 12, 1996-12 ,pp. : 1953-1961

Oxford University Press

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Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome

By Doné S.C.  

Human Molecular Genetics, Vol. 10, Iss. 23, 2001-11 ,pp. : 2637-2644

Oxford University Press

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