1989 …2018
If you made any changes in Pure, your changes will be visible here soon.

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
Transgenic Mice Medicine & Life Sciences
Trinucleotide Repeats Medicine & Life Sciences
Neurodegenerative Diseases Medicine & Life Sciences
Ataxia Medicine & Life Sciences
Chromosomes, Human, Pair 6 Medicine & Life Sciences
Cerebellum Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output 1989 2018

5 Citations (Scopus)

Antisense oligonucleotide-mediated ataxin-1 reduction prolongs survival in SCA1 mice and reveals disease-associated transcriptome profiles

Friedrich, J., Kordasiewicz, H. B., O'Callaghan, B., Handler, H. P., Wagener, C., Duvick, L., Swayze, E. E., Rainwater, O., Hofstra, B., Benneyworth, M., Nichols-Meade, T., Yang, P., Chen, Z., Ortiz, J. P., Clark, H. B., Oz, G., Larson, S., Zoghbi, H. Y., Henzler, C. & Orr, H. T., Nov 2 2018, In : JCI Insight. 3, 21

Research output: Contribution to journalArticle

Open Access
Spinocerebellar Ataxias
Antisense Oligonucleotides
Transcriptome
Neurological Models
RNA
10 Citations (Scopus)

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 others, Orr, H. T., Mar 21 2018, In : Neuron. 97, 6, p. 1235-1243.e5

Research output: Contribution to journalArticle

Open Access
Spinocerebellar Ataxias
Pathology
Cerebellum
Neurons
Purkinje Cells
2 Citations (Scopus)

Reduction of protein kinase A-mediated phosphorylation of ATXN1-S776 in Purkinje cells delays onset of Ataxia in a SCA1 mouse model

Pérez Ortiz, J. M., Mollema, N., Toker, N., Adamski, C. J., O'Callaghan, B., Duvick, L., Friedrich, J., Walters, M. A., Strasser, J. M., Hawkinson, J. E., Zoghbi, H. Y., Henzler, C., Orr, H. T. & Lagalwar, S., Aug 2018, In : Neurobiology of Disease. 116, p. 93-105 13 p.

Research output: Contribution to journalArticle

Open Access
Spinocerebellar Ataxias
Purkinje Cells
Ataxia
Cyclic AMP-Dependent Protein Kinases
Phosphorylation
33 Citations (Scopus)

Cerebellar Transcriptome Profiles of ATXN1 Transgenic Mice Reveal SCA1 Disease Progression and Protection Pathways

Ingram, M., Wozniak, E. A. L., Duvick, L., Yang, R., Bergmann, P., Carson, R., O'Callaghan, B., Zoghbi, H. Y., Henzler, C. & Orr, H. T., Mar 16 2016, In : Neuron. 89, 6, p. 1194-1207 14 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Purkinje Cells
Transcriptome
Transgenic Mice
Disease Progression
27 Citations (Scopus)

Purkinje cell ataxin-1 Modulates climbing fiber synaptic input in developing and adult mouse cerebellum

Ebner, B. A., Ingram, M. A., Barnes, J. A., Duvick, L. A., Frisch, J. L., Clark, H. B., Zoghbi, H. Y., Ebner, T. J. & Orr, H. T., Mar 27 2013, In : Journal of Neuroscience. 33, 13, p. 5806-5820 15 p.

Research output: Contribution to journalArticle

Purkinje Cells
Cerebellum
Ataxin-1
Transgenic Mice
Spinocerebellar Ataxias