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Fingerprint The Fingerprint is created by mining the titles and abstracts of the person's research outputs and projects/funding awards to create an index of weighted terms from discipline-specific thesauri.

  • 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

cells
Spinocerebellar Ataxias
Molecular Biology
Spinocerebellar Ataxias
Spinocerebellar Ataxias
Therapeutics

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
Pathology
Cerebellum
Neurons
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
Neurons
Diaphragm

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
Pharmacology
Ataxin-1
Drosophila

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
Atrophy
Neurodegenerative Diseases
Birefringence

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
Spliceosomes
RNA
Processing