In vivo molecular signatures of cerebellar pathology in spinocerebellar ataxia type 3

بواسطة Costa, Maria do Carmo, Radzwion, Maria, McLoughlin, Hayley S., Ashraf, Naila S., Fischer, Svetlana, Shakkottai, Vikram G., Maciel, Patrícia, Paulson, Henry L., Öz, Gülin
الحاوية / القاعدة Mov Disord (2020)

Silencing Mutant ATXN3 Expression Resolves Molecular Phenotypes in SCA3 Transgenic Mice

بواسطة Rodríguez-Lebrón, Edgardo, Costa, Maria doCarmo, Luna-Cancalon, Katiuska, Peron, Therese M, Fischer, Svetlana, Boudreau, Ryan L, Davidson, Beverly L, Paulson, Henry L
منشور في 2013

Ubiquilin-2 differentially regulates polyglutamine disease proteins

بواسطة Gerson, Julia E, Safren, Nathaniel, Fischer, Svetlana, Patel, Ronak, Crowley, Emily V, Welday, Jacqueline P, Windle, Alexandra K, Barmada, Sami, Paulson, Henry L, Sharkey, Lisa M
الحاوية / القاعدة Hum Mol Genet (2020)

Ube2w and ataxin-3 coordinately regulate the ubiquitin ligase CHIP

بواسطة Scaglione, K. Matthew, Zavodszky, Eszter, Todi, Sokol V., Patury, Srikanth, Xu, Ping, Rodríguez-Lebrón, Edgardo, Fischer, Svetlana, Konen, John, Djarmati, Ana, Peng, Junmin, Gestwicki, Jason E., Paulson, Henry L.
منشور في 2011

A knockin mouse model of spinocerebellar ataxia type 3 exhibits prominent aggregate pathology and aberrant splicing of the disease gene transcript

بواسطة Ramani, Biswarathan, Harris, Ginny M., Huang, Rogerio, Seki, Takahiro, Murphy, Geoffrey G., Costa, Maria do Carmo, Fischer, Svetlana, Saunders, Thomas L., Xia, Guangbin, McEachin, Richard C., Paulson, Henry L.
الحاوية / القاعدة Hum Mol Genet (2015)

A knockin mouse model of spinocerebellar ataxia type 3 exhibits prominent aggregate pathology and aberrant splicing of the disease gene transcript

بواسطة Ramani, Biswarathan, Harris, Ginny M., Huang, Rogerio, Seki, Takahiro, Murphy, Geoffrey G., do Carmo Costa, Maria, Fischer, Svetlana, Saunders, Thomas L., Xia, Guangbin, McEachin, Richard C., Paulson, Henry L.
الحاوية / القاعدة Hum Mol Genet (2017)

Toward RNAi Therapy for the Polyglutamine Disease Machado–Joseph Disease

بواسطة do Carmo Costa, Maria, Luna-Cancalon, Katiuska, Fischer, Svetlana, Ashraf, Naila S, Ouyang, Michelle, Dharia, Rahil M, Martin-Fishman, Lucas, Yang, Yemen, Shakkottai, Vikram G, Davidson, Beverly L, Rodríguez-Lebrón, Edgardo, Paulson, Henry L
منشور في 2013

Modeling UBQLN2-mediated neurodegenerative disease in mice: shared and divergent properties of wild type and mutant UBQLN2 in phase separation, subcellular localization, altered pr...

بواسطة Sharkey, Lisa M., Sandoval-Pistorius, Stephanie S., Moore, Shannon J., Gerson, Julia E., Komlo, Robert, Fischer, Svetlana, Negron-Rios, Keyshla Y., Crowley, Emily V., Padron, Francisco, Patel, Ronak, Murphy, Geoffrey G., Paulson, Henry L.
الحاوية / القاعدة Neurobiol Dis (2020)

Mutant UBQLN2 promotes toxicity by modulating intrinsic self-assembly

بواسطة Sharkey, Lisa M., Safren, Nathaniel, Pithadia, Amit S., Gerson, Julia E., Dulchavsky, Mark, Fischer, Svetlana, Patel, Ronak, Lantis, Gabrielle, Ashraf, Naila, Kim, John H., Meliki, Alia, Minakawa, Eiko N., Barmada, Sami J., Ivanova, Magdalena I., Paulson, Henry L.
الحاوية / القاعدة Proc Natl Acad Sci U S A (2018)

Unbiased screen identifies aripiprazole as a modulator of abundance of the polyglutamine disease protein, ataxin-3

بواسطة Costa, Maria do Carmo, Ashraf, Naila S., Fischer, Svetlana, Yang, Yemen, Schapka, Emily, Joshi, Gnanada, McQuade, Thomas J., Dharia, Rahil M., Dulchavsky, Mark, Ouyang, Michelle, Cook, David, Sun, Duxin, Larsen, Martha J., Gestwicki, Jason E., Todi, Sokol V., Ivanova, Magdalena I., Paulson, Henry L.
الحاوية / القاعدة Brain (2016)