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  • 6 Similar Profiles
Spinocerebellar Ataxias Medicine & Life Sciences
Purkinje Cells Medicine & Life Sciences
Neurodegenerative Diseases Medicine & Life Sciences
Transgenic Mice Medicine & Life Sciences
Genes Medicine & Life Sciences
HLA-A Antigens Medicine & Life Sciences
Ataxia Medicine & Life Sciences
HLA-B Antigens Medicine & Life Sciences

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Projects 1996 2023

Spinocerebellar Ataxias
Molecular Biology
Spinocerebellar Ataxias
Spinocerebellar Ataxias

Research Output 1972 2018

2 Citations

ATXN1-CIC Complex Is the Primary Driver of Cerebellar Pathology in Spinocerebellar Ataxia Type 1 through a Gain-of-Function Mechanism

Rousseaux, M. W. C., Tschumperlin, T., Lu, H. C., Lackey, E. P., Bondar, V. V., Wan, Y. W., Tan, Q., Adamski, C. J., Friedrich, J., Twaroski, K., Chen, W., Tolar, J., Henzler, C., Sharma, A., Bajić, A., Lin, T., Duvick, L., Liu, Z., Sillitoe, R. V., Zoghbi, H. Y. & 1 othersOrr, H. T., Mar 21 2018, In : Neuron. 97, 6, p. 1235-1243.e5

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Purkinje Cells
1 Citations

Motor neuron degeneration correlates with respiratory dysfunction in SCA1

Orengo, J. P., van der Heijden, M. E., Hao, S., Tang, J., Orr, H. T. & Zoghbi, H. Y., Feb 26 2018, In : Disease models & mechanisms. 11, 2

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Nerve Degeneration
Motor Neurons

PAK1 regulates ATXN1 levels providing an opportunity to modify its toxicity in spinocerebellar ataxia type 1

Bondar, V. V., Adamski, C. J., Onur, T. S., Tan, Q., Wang, L., Diaz-Garcia, J., Park, J., Orr, H. T., Botas, J. & Zoghbi, H. Y., Jan 1 2018, In : Human molecular genetics. 27, 16, p. 2863-2873 11 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
p21-Activated Kinases

Polarization-sensitive optical coherence tomography reveals gray matter and white matter atrophy in SCA1 mouse models

Liu, C. J., Rainwater, O., Clark, H. B., Orr, H. T. & Akkin, T., Aug 1 2018, In : Neurobiology of Disease. 116, p. 69-77 9 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Optical Coherence Tomography
Neurodegenerative Diseases

RBM17 Interacts with U2SURP and CHERP to Regulate Expression and Splicing of RNA-Processing Proteins

De Maio, A., Yalamanchili, H. K., Adamski, C. J., Gennarino, V. A., Liu, Z., Qin, J., Jung, S. Y., Richman, R., Orr, H. T. & Zoghbi, H. Y., Oct 16 2018, In : Cell Reports. 25, 3, p. 726-736.e7

Research output: Contribution to journalArticle

RNA Splicing
RNA-Binding Proteins