TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton von Nery, Flávia C, Zeng, Juan, Niland, Brian P, Hewett, Jeffrey, Farley, Jonathan, Irimia, Daniel, Li, Yuqing, Wiche, Gerhard, Sonnenberg, Arnoud, Breakefield, Xandra O

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TorsinA participates in endoplasmic reticulum-associated degradation von Nery, Flávia C., Armata, Ioanna A., Farley, Jonathan E., Cho, Jin A., Yaqub, Uzma, Chen, Pan, da Hora, Cintia Carla, Wang, Qiuyan, Tagaya, Mitsuo, Klein, Christine, Tannous, Bakhos, Caldwell, Kim A., Caldwell, Guy A., Lencer, Wayne I., Ye, Yihong, Breakefield, Xandra O.

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Biochemical and Cellular Analysis of Human Variants of the DYT1 Dystonia Protein, TorsinA/TOR1A von Hettich, Jasmin, Ryan, Scott D., de Souza, Osmar Norberto, Saraiva Macedo Timmers, Luís Fernando, Tsai, Shelun, Atai, Nadia A., da Hora, Cintia C., Zhang, Xuan, Kothary, Rashmi, Snapp, Erik, Ericsson, Maria, Grundmann, Kathrin, Breakefield, Xandra O., Nery, Flávia C.

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Impaired kidney structure and function in spinal muscular atrophy von Nery, Flávia C, Siranosian, Jennifer J, Rosales, Ivy, Deguise, Marc-Olivier, Sharma, Amita, Muhtaseb, Abdurrahman W, Nwe, Pann, Johnstone, Alec J, Zhang, Ren, Fatouraei, Maryam, Huemer, Natassja, Alves, Christiano R R, Kothary, Rashmi, Swoboda, Kathryn J

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New methods for investigation of neuronal migration in embryonic brain explants von Nery, Flávia C., da Hora, Cintia C., Yaqub, Uzma, Zhang, Xuan, McCarthy, Deirdre M., Bhide, Pradeep G., Irimia, Daniel, Breakefield, Xandra O.

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siRNA knock-down of mutant torsinA restores processing through secretory pathway in DYT1 dystonia cells von Hewett, Jeffrey W., Nery, Flávia C., Niland, Brian, Ge, Pei, Tan, Pamela, Hadwiger, Philipp, Tannous, Bakhos A., Sah, Dinah W.Y., Breakefield, Xandra O.

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Untethering the Nuclear Envelope and Cytoskeleton: Biologically Distinct Dystonias Arising from a Common Cellular Dysfunction von Atai, Nadia A., Ryan, Scott D., Kothary, Rashmi, Breakefield, Xandra O., Nery, Flávia C.

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Prion protein quantification in human cerebrospinal fluid as a tool for prion disease drug development von Vallabh, Sonia M., Nobuhara, Chloe K., Llorens, Franc, Zerr, Inga, Parchi, Piero, Capellari, Sabina, Kuhn, Eric, Klickstein, Jacob, Safar, Jiri G., Nery, Flavia C., Swoboda, Kathryn J., Geschwind, Michael D., Zetterberg, Henrik, Arnold, Steven E., Minikel, Eric Vallabh, Schreiber, Stuart L.

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4-Phenylbutyrate attenuates the ER stress response and cyclic AMP accumulation in DYT1 dystonia cell models von Cho, Jin A, Zhang, Xuan, Miller, Gregory M, Lencer, Wayne I, Nery, Flavia C

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Evidence for the interaction of the regulatory protein Ki-1/57 with p53 and its interacting proteins von Nery, Flávia C., Rui, Edmilson, Kuniyoshi, Taís M., Kobarg, Jörg

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Molecular pathways in dystonia von Bragg, D. Cristopher, Armata, Ioanna A, Nery, Flavia C, Breakefield, Xandra O, Sharma, Nutan

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

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Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells von Hewett, Jeffrey W, Tannous, Bakhos, Niland, Brian P, Nery, Flavia C, Zeng, Juan, Li, Yuqing, Breakefield, Xandra O

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A spectroscopic analysis of the interaction between the human regulatory proteins RACK1 and Ki-1/57 von Nery, Flávia C., Bressan, Gustavo C., Alborghetti, Marcos R., Passos, Dario O., Kuniyoshi, Taís M., Ramos, Carlos H.I., Oyama, Sergio, Kobarg, Jörg

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Whole‐blood dysregulation of actin‐cytoskeleton pathway in adult spinal muscular atrophy patients von Siranosian, Jennifer J., Nery, Flavia C., Alves, Christiano R. R., Siranosian, Benjamin A., Lyons, Nicholas J., Eichelberger, Eric J., Garner, Reid, Da Silva Duarte Lepez, Salomé, Johnstone, Alec J., Subramanian, Aravind, Swoboda, Kathryn J.

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Harnessing the power of the patient perspective for rare disease therapeutics von Swoboda, Kathryn J, Nery, Flavia C

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Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype von Ruhno, Corey, McGovern, Vicki L., Avenarius, Matthew R., Snyder, Pamela J., Prior, Thomas W., Nery, Flavia C., Muhtaseb, Abdurrahman, Roggenbuck, Jennifer S., Kissel, John T., Sansone, Valeria A., Siranosian, Jennifer J., Johnstone, Alec J., Nwe, Pann H., Zhang, Ren Z., Swoboda, Kathryn J., Burghes, Arthur H. M.

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Chemical enhancement of torsinA function in cell and animal models of torsion dystonia von Cao, Songsong, Hewett, Jeffrey W, Yokoi, Fumiaki, Lu, Jun, Buckley, Amber Clark, Burdette, Alexander J, Chen, Pan, Nery, Flavia C, Li, Yuqing, Breakefield, Xandra O, Caldwell, Guy A, Caldwell, Kim A

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Characterization of a new family of proteins that interact with the C-terminal region of the chromatin-remodeling factor CHD-3 von Lemos, Taı́la A., Passos, Dario O., Nery, Flávia C., Kobarg, Jörg

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Ki-1/57 Interacts with RACK1 and Is a Substrate for the Phosphorylation by Phorbol 12-Myristate 13-Acetate-activated Protein Kinase C von Nery, Flávia C., Passos, Dario O., Garcia, Vera S., Kobarg, Jörg

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