The early-onset torsion dystonia-associated protein, torsinA, is a homeostatic regulator of endoplasmic reticulum stress response

By Chen Pan   Burdette Alexander J.   Porter J. Christopher   Ricketts John C.   Fox Stacey A.   Nery Flavia C.   Hewett Jeffrey W.   Berkowitz Laura A.   Breakefield Xandra O.   Caldwell Kim A.   Caldwell Guy A.  

Human Molecular Genetics, Vol. 19, Iss. 18, 2010-09 ,pp. : 3502-3515

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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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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Relative tissue expression of homologous torsinB correlates with the neuronal specific importance of DYT1 dystonia-associated torsinA

By Jungwirth Michael   Dear Mary Lynn   Brown Patricia   Holbrook Kristen   Goodchild Rose  

Human Molecular Genetics, Vol. 19, Iss. 5, 2010-03 ,pp. : 888-900

Oxford University Press

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Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier

By Kock Norman   Naismith Teresa V.   Boston Heather E.   Ozelius Laurie J.   Corey David P.   Breakefield Xandra O.   Hanson Phyllis I.  

Human Molecular Genetics, Vol. 15, Iss. 8, 2006-04 ,pp. : 1355-1364

Oxford University Press

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