Orr, Harry T.

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1

Orr, H. T., Chung, M.-Y., Banfi, S., Kwiatkowski, T. J., Servadio, A., Beaudet, A. L., McCall, A. E., Duvick, L. A., Ranum, L. P. W., & Zoghbi, H. Y. (1993) · Nature Genetics

Genetic Neurodegenerative DiseasesGenetic factors in colorectal cancer

Cited by 1,632

Identification of genes that modify ataxin-1-induced neurodegeneration

Fernandez-Funez, P., Nino-Rosales, M. L., de Gouyon, B., She, W.-C., Luchak, J. M., Martinez, P., Turiegano, E., Benito, J., Capovilla, M., Skinner, P. J., et al. (2000) · Nature

Genetic Neurodegenerative DiseasesGenetics and Neurodevelopmental Disorders

Cited by 661

Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1

Chen, H.-K., Fernandez-Funez, P., Acevedo, S. F., Lam, Y. C., Kaytor, M. D., Fernandez, M. H., Aitken, A., Skoulakis, E. M. C., Orr, H. T., Botas, J., et al. (2003) · Cell

Genetic Neurodegenerative DiseasesAmyotrophic Lateral Sclerosis Research

Cited by 414

Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1

Lin, X., Antalffy, B., Kang, D., Orr, H. T., & Zoghbi, H. Y. (2000) · Nature Neuroscience

Genetic Neurodegenerative DiseasesGenetics and Neurodevelopmental Disorders

Cited by 374

A Long CAG Repeat in the Mouse Sca1 Locus Replicates SCA1 Features and Reveals the Impact of Protein Solubility on Selective Neurodegeneration

Watase, K., Weeber, E. J., Xu, B., Antalffy, B., Yuva-Paylor, L., Hashimoto, K., Kano, M., Atkinson, R., Sun, Y., Armstrong, D. L., et al. (2002) · Neuron

Genetic Neurodegenerative DiseasesAmyotrophic Lateral Sclerosis Research

Cited by 359

ATAXIN-1 Interacts with the Repressor Capicua in Its Native Complex to Cause SCA1 Neuropathology

Lam, Y. C., Bowman, A. B., Jafar-Nejad, P., Lim, J., Richman, R., Fryer, J. D., Hyun, E. D., Duvick, L. A., Orr, H. T., Botas, J., et al. (2006) · Cell

Genetic Neurodegenerative DiseasesGenetics and Neurodevelopmental Disorders

Cited by 326

Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1

Lim, J., Crespo-Barreto, J., Jafar-Nejad, P., Bowman, A. B., Richman, R., Hill, D. E., Orr, H. T., & Zoghbi, H. Y. (2008) · Nature

Genetic Neurodegenerative DiseasesGenetics and Neurodevelopmental Disorders

Cited by 311

Serine 776 of Ataxin-1 Is Critical for Polyglutamine-Induced Disease in SCA1 Transgenic Mice

Emamian, E. S., Kaytor, M. D., Duvick, L. A., Zu, T., Tousey, S. K., Zoghbi, H. Y., Clark, H. B., & Orr, H. T. (2003) · Neuron

Genetic Neurodegenerative DiseasesGenetics and Neurodevelopmental Disorders

Cited by 305

Recovery from Polyglutamine-Induced Neurodegeneration in Conditional SCA1 Transgenic Mice

Zu, T., Duvick, L. A., Kaytor, M. D., Berlinger, M. S., Zoghbi, H. Y., Clark, H. B., & Orr, H. T. (2004) · The Journal of Neuroscience

Genetic Neurodegenerative DiseasesAmyotrophic Lateral Sclerosis Research

Cited by 262

Gene profiling links SCA1 pathophysiology to glutamate signaling in Purkinje cells of transgenic mice

Serra, H. G., Byam, C. E., Lande, J. D., Tousey, S. K., Zoghbi, H. Y., & Orr, H. T. (2004) · Human Molecular Genetics

Genetic Neurodegenerative DiseasesGenetics and Neurodevelopmental Disorders

Cited by 176

Exercise and Genetic Rescue of SCA1 via the Transcriptional Repressor Capicua

Fryer, J. D., Yu, P., Kang, H., Mandel-Brehm, C., Carter, A. N., Crespo-Barreto, J., Gao, Y., Flora, A., Shaw, C., Orr, H. T., et al. (2011) · Science

Genetic Neurodegenerative DiseasesAmyotrophic Lateral Sclerosis Research

Cited by 162

SCA1-like Disease in Mice Expressing Wild-Type Ataxin-1 with a Serine to Aspartic Acid Replacement at Residue 776

Duvick, L., Barnes, J., Ebner, B., Agrawal, S., Andresen, M., Lim, J., Giesler, G. J., Zoghbi, H. Y., & Orr, H. T. (2010) · Neuron

Genetic Neurodegenerative DiseasesGenetics and Neurodevelopmental Disorders

Cited by 145

Partial Loss of Ataxin-1 Function Contributes to Transcriptional Dysregulation in Spinocerebellar Ataxia Type 1 Pathogenesis

Crespo-Barreto, J., Fryer, J. D., Shaw, C. A., Orr, H. T., & Zoghbi, H. Y. (2010) · PLoS Genetics

Genetic Neurodegenerative DiseasesGenetics and Neurodevelopmental Disorders

Cited by 136

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., et al. (2018) · JCI Insight

Genetic Neurodegenerative DiseasesAmyotrophic Lateral Sclerosis Research

Cited by 121

Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes

Bowman, A. B., Lam, Y. C., Jafar-Nejad, P., Chen, H.-K., Richman, R., Samaco, R. C., Fryer, J. D., Kahle, J. J., Orr, H. T., & Zoghbi, H. Y. (2007) · Nature Genetics

Genetic Neurodegenerative DiseasesGenetics and Neurodevelopmental Disorders

Cited by 86

Autistic-like Behavior and Cerebellar Dysfunction in Bmal1 Mutant Mice Ameliorated by mTORC1 Inhibition

Liu, D., Nanclares, C., Simbriger, K., Fang, K., Lorsung, E., Le, N., Amorim, I. S., Chalkiadaki, K., Pathak, S. S., Li, J., et al. (2023) · Molecular Psychiatry

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 56

Polyglutamine Disease Toxicity Is Regulated by Nemo-like Kinase in Spinocerebellar Ataxia Type 1

Ju, H., Kokubu, H., Todd, T. W., Kahle, J. J., Kim, S., Richman, R., Chirala, K., Orr, H. T., Zoghbi, H. Y., & Lim, J. (2013) · The Journal of Neuroscience

Genetic Neurodegenerative DiseasesGenetics and Neurodevelopmental Disorders

Cited by 31