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Research Output 1972 2019

2010
97 Citations (Scopus)

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., Sep 1 2010, In : Neuron. 67, 6, p. 929-935 7 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Aspartic Acid
Serine
Cell Death
Glutamine
2009
7 Citations (Scopus)

Characterization of the zebrafish atxn1/axh gene family

Carlson, K. M., Melcher, L., Lai, S., Zoghbi, H. Y., Clark, H. B. & Orr, H. T., Jan 1 2009, In : Journal of Neurogenetics. 23, 3, p. 313-323 11 p.

Research output: Contribution to journalArticle

Zebrafish
Cerebellum
Genes
Spinocerebellar Ataxias
Vertebrates
54 Citations (Scopus)

Emerging pathogenic pathways in the spinocerebellar ataxias

Carlson, K. M., Andresen, J. M. & Orr, H. T., Jun 1 2009, In : Current Opinion in Genetics and Development. 19, 3, p. 247-253 7 p.

Research output: Contribution to journalReview article

Spinocerebellar Ataxias
Genes
Spinocerebellar Degenerations
Cerebellar Diseases
Neurodegenerative Diseases
134 Citations (Scopus)

Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, Spinocerebellar ataxia type 1

Zoghbi, H. Y. & Orr, H. T., Mar 20 2009, In : Journal of Biological Chemistry. 284, 12, p. 7425-7429 5 p.

Research output: Contribution to journalShort survey

Neurodegenerative diseases
Spinocerebellar Ataxias
Neurodegenerative Diseases
Trinucleotide Repeats
Phosphorylation
31 Citations (Scopus)

Phosphorylation of ATXN1 at Ser776 in the cerebellum

Jorgensen, N. D., Andresen, J. M., Lagalwar, S., Armstrong, B., Stevens, S., Byam, C. E., Duvick, L. A., Lai, S., Jafar-Nejad, P., Zoghbi, H. Y., Clark, H. B. & Orr, H. T., Jul 1 2009, In : Journal of Neurochemistry. 110, 2, p. 675-686 12 p.

Research output: Contribution to journalArticle

Phosphorylation
Cerebellum
Spinocerebellar Ataxias
Inbred AKR Mouse
Thymoma
6 Citations (Scopus)
Nervous System Diseases
Nucleotides
Mutation
2008
7 Citations (Scopus)
Spinocerebellar Ataxias
Trinucleotide Repeats
Antisense RNA
Gene therapy
Molecular Models
163 Citations (Scopus)

miR-19, miR-101 and miR-130 co-regulate ATXN1 levels to potentially modulate SCA1 pathogenesis

Lee, Y., Samaco, R. C., Gatchel, J. R., Thaller, C., Orr, H. T. & Zoghbi, H. Y., Oct 1 2008, In : Nature neuroscience. 11, 10, p. 1137-1139 3 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Neurodegenerative Diseases
Proteins
polyglutamine
225 Citations (Scopus)

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., Apr 10 2008, In : Nature. 452, 7188, p. 713-718 6 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Proteins
Glutamine
Poisons
Mutant Proteins
50 Citations (Scopus)

The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7

Gatchel, J. R., Watase, K., Thaller, C., Carson, J. P., Jafar-Nejad, P., Shaw, C., Zu, T., Orr, H. T. & Zoghbi, H. Y., Jan 29 2008, In : Proceedings of the National Academy of Sciences of the United States of America. 105, 4, p. 1291-1296 6 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Somatomedins
Insulin-Like Growth Factor Binding Protein 5
Purkinje Cells
Glutamine
2007
53 Citations (Scopus)

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., Mar 1 2007, In : Nature Genetics. 39, 3, p. 373-379 7 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Glutamine
Neurodegenerative Diseases
Ships
Neuropathology
13 Citations (Scopus)

Fragile X Tremor/Ataxia Syndrome: Blame the Messenger!

Swanson, M. S. & Orr, H. T., Aug 16 2007, In : Neuron. 55, 4, p. 535-537 3 p.

Research output: Contribution to journalShort survey

RNA-Binding Proteins
Drosophila
Alleles
Neurons
Genes
9 Citations (Scopus)

Hsp70/Hsc70 regulates the effect phosphorylation has on stabilizing ataxin-1

Jorgensen, N. D., Andresen, J. M., Pitt, J. E., Swenson, M. A., Zoghbi, H. Y. & Orr, H. T., Sep 1 2007, In : Journal of Neurochemistry. 102, 6, p. 2040-2048 9 p.

Research output: Contribution to journalArticle

Phosphorylation
Spinocerebellar Ataxias
Cytoplasm
Serine
Cricetulus
120 Citations (Scopus)

Lithium therapy improves neurological function and hippocampal dendritic arborization in a spinocerebellar ataxia type 1 mouse model

Watase, K., Gatchel, J. R., Sun, Y., Emamian, E., Atkinson, R., Richman, R., Mizusawa, H., Orr, H. T., Shaw, C. & Zoghbi, H. Y., May 1 2007, In : PLoS medicine. 4, 5, p. 836-847 12 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Neuronal Plasticity
Lithium
Lithium Carbonate
Therapeutics

Spinocerebellar ataxia type 1

Orr, H. T., Dec 1 2007, Neurobiology of Disease. Elsevier Inc., p. 149-155 7 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Spinocerebellar Ataxias
Purkinje Cells
Ataxia
RNA Interference
Glutamine
918 Citations (Scopus)

Trinucleotide repeat disorders

Orr, H. T. & Zoghbi, H. Y., Aug 13 2007, In : Annual Review of Neuroscience. 30, p. 575-621 47 p.

Research output: Contribution to journalReview article

Trinucleotide Repeats
Protein Conformation
Neuronal Plasticity
Neurobiology
Muscular Dystrophies
2006
196 Citations (Scopus)

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. & Zoghbi, H. Y., Dec 29 2006, In : Cell. 127, 7, p. 1335-1347 13 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Proteins
Neurodegenerative diseases
Neurodegenerative Diseases
Cerebellum
10 Citations (Scopus)

Neurodegenerative disease: Cut to the chase

Ellerby, L. M. & Orr, H. T., Aug 10 2006, In : Nature. 442, 7103, p. 641-642 2 p.

Research output: Contribution to journalShort survey

disease by anatomical location

Phosphorylation Of Ataxin-1: A link between basic research and clinical application in spinocerebellar ataxia type 1

Carlson, K. M. & Orr, H. T., Dec 1 2006, Genetic Instabilities and Neurological Diseases, Second Edition. Elsevier Inc., p. 339-349 11 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Spinocerebellar Ataxias
Phosphorylation
Research
Neurodegenerative diseases
Ataxin-1
119 Citations (Scopus)

Polyglutamine neurodegenerative diseases and regulation of transcription: Assembling the puzzle

Riley, B. E. & Orr, H. T., Aug 15 2006, In : Genes and Development. 20, 16, p. 2183-2192 10 p.

Research output: Contribution to journalReview article

Neurodegenerative Diseases
Proteins
Clinical Pathology
Mutant Proteins
polyglutamine
141 Citations (Scopus)

RORα-Mediated Purkinje Cell Development Determines Disease Severity in Adult SCA1 Mice

Serra, H. G., Duvick, L., Zu, T., Carlson, K., Stevens, S., Jorgensen, N., Lysholm, A., Burright, E., Zoghbi, H. Y., Clark, H. B., Andresen, J. M. & Orr, H. T., Nov 17 2006, In : Cell. 127, 4, p. 697-708 12 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Purkinje Cells
Neurodegenerative diseases
Gene expression
Transcription Factors
54 Citations (Scopus)
Purkinje Cells
Ataxia
Gait
Alleles
Antisense RNA
52 Citations (Scopus)

The genetics of neurodegenerative diseases

Hardy, J. & Orr, H., Jun 1 2006, In : Journal of Neurochemistry. 97, 6, p. 1690-1699 10 p.

Research output: Contribution to journalReview article

Neurodegenerative diseases
Inborn Genetic Diseases
Neurodegenerative Diseases
Nervous System Heredodegenerative Disorders
Motor Neuron Disease
2005
23 Citations (Scopus)

A cell-based screen for modulators of ataxin-1 phosphorylation

Kaytor, M. D., Byam, C. E., Tousey, S. K., Stevens, S. D., Zoghbi, H. Y. & Orr, H. T., Apr 15 2005, In : Human molecular genetics. 14, 8, p. 1095-1105 11 p.

Research output: Contribution to journalArticle

Phosphorylation
Serine
Spinocerebellar Ataxias
Ataxin-1
Phosphotransferases

Animal models of spinocerebellar ataxia sype 1 (SCA1)

Kaytor, M. D. & Orr, H. T., Dec 1 2005, Movement Disorders. Elsevier Inc., p. 623-630 8 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Spinocerebellar Ataxias
Animal Models
Mutant Proteins
Neurons
Olivary Nucleus
13 Citations (Scopus)

Identification of a novel phosphorylation site in ataxin-1

Vierra-Green, C. A., Orr, H. T., Zoghbi, H. Y. & Ferrington, D. A., May 15 2005, In : Biochimica et Biophysica Acta - Molecular Cell Research. 1744, 1, p. 11-18 8 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Serine
Phosphorylation
Alanine
Transgenic Mice
78 Citations (Scopus)

RNA association and nucleocytoplasmic shuttling by ataxin-1

Irwin, S., Vandelft, M., Pinchev, D., Howell, J. L., Graczyk, J., Orr, H. T. & Truant, R., Jan 1 2005, In : Journal of cell science. 118, 1, p. 233-242 10 p.

Research output: Contribution to journalArticle

RNA
Spinocerebellar Ataxias
Intranuclear Inclusion Bodies
Cell Nucleus Active Transport
Nuclear RNA
68 Citations (Scopus)

SUMOylation of the polyglutamine repeat protein, ataxin-1, is dependent on a functional nuclear localization signal

Riley, B. E., Zoghbi, H. Y. & Orr, H. T., Jun 10 2005, In : Journal of Biological Chemistry. 280, 23, p. 21942-21948 7 p.

Research output: Contribution to journalArticle

Sumoylation
Nuclear Localization Signals
Ubiquitin
Leukemia
Aptitude
146 Citations (Scopus)

The AXH domain of ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/senseless proteins

Tsuda, H., Jafar-Nejad, H., Patel, A. J., Sun, Y., Chen, H. K., Rose, M. F., Venken, K. J. T., Botas, J., Orr, H. T., Bellen, H. J. & Zoghbi, H. Y., Aug 16 2005, In : Cell. 122, 4, p. 633-644 12 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Purkinje Cells
Glutamine
Drosophila
Proteins
2004
128 Citations (Scopus)

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., Oct 15 2004, In : Human molecular genetics. 13, 20, p. 2535-2543 9 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Purkinje Cells
Transgenic Mice
Glutamic Acid
Genes
31 Citations (Scopus)

Generation and Characterization of LANP/pp32 Null Mice

Opal, P., Garcia, J. J., McCall, A. E., Xu, B., Weeber, E. J., Sweatt, J. D., Orr, H. T. & Zoghbi, H. Y., Apr 1 2004, In : Molecular and cellular biology. 24, 8, p. 3140-3149 10 p.

Research output: Contribution to journalArticle

Nuclear Proteins
Leucine
RNA Transport
Spinocerebellar Ataxias
Proteins
12 Citations (Scopus)

Into the depths of ataxia

Orr, H. T., Feb 1 2004, In : Journal of Clinical Investigation. 113, 4, p. 505-507 3 p.

Research output: Contribution to journalReview article

Ataxia
Cerebellar Cortex
Cerebellar Nuclei
Gait
Neurons
27 Citations (Scopus)

Neuron protection agency

Orr, H. T., Oct 14 2004, In : Nature. 431, 7010, p. 747-748 2 p.

Research output: Contribution to journalShort survey

Nerve Tissue Proteins
Neostriatum
Biological Models
Huntington Disease
Inclusion Bodies
12 Citations (Scopus)

Overexpression of CREB reduces CRE-mediated transcription: Behavioral and cellular analyses in transgenic mice

Brodie, C. R., Khaliq, M., Yin, J. C. P., Clark, H. B., Orr, H. T. & Boland, L. M., Apr 1 2004, In : Molecular and Cellular Neuroscience. 25, 4, p. 602-611 10 p.

Research output: Contribution to journalArticle

Cyclic AMP Response Element-Binding Protein
Purkinje Cells
Transgenic Mice
Neuronal Plasticity
Long-Term Potentiation
193 Citations (Scopus)

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., Oct 6 2004, In : Journal of Neuroscience. 24, 40, p. 8853-8861 9 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Purkinje Cells
Transgenic Mice
Intranuclear Inclusion Bodies
Transgenes
6 Citations (Scopus)

RNA gains a new function: A mediator of neurodegeneration

Orr, H. T., May 1 2004, In : Trends in Neurosciences. 27, 5, p. 233-234 2 p.

Research output: Contribution to journalShort survey

RNA
Neurodegenerative Diseases
Tremor
Ataxia
Intellectual Disability
547 Citations (Scopus)

RNAi suppresses polyglutamine-induced neurodegeneration in a model of spinocerebellar ataxia

Xia, H., Mao, Q., Eliason, S. L., Harper, S. Q., Martins, I. H., Orr, H. T., Paulson, H. L., Yang, L., Kotin, R. M. & Davidson, B. L., Aug 1 2004, In : Nature Medicine. 10, 8, p. 816-820 5 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
RNA Interference
RNA
Huntington Disease
Neurodegenerative Diseases
31 Citations (Scopus)

The effects of the polyglutamine repeat protein ataxin-1 on the UbL-UBA protein A1UP

Riley, B. E., Xu, Y., Zoghbi, H. Y. & Orr, H. T., Oct 1 2004, In : Journal of Biological Chemistry. 279, 40, p. 42290-42301 12 p.

Research output: Contribution to journalArticle

Ubiquitins
Ubiquitin
Proteins
Proteasome Endopeptidase Complex
Ataxin-1
2003
323 Citations (Scopus)

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. & Zoghbi, H. Y., May 16 2003, In : Cell. 113, 4, p. 457-468 12 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Phosphatidylinositol 3-Kinase
14-3-3 Proteins
Phosphorylation
Mutant Proteins
53 Citations (Scopus)

Mapmodulin/Leucine-rich Acidic Nuclear Protein Binds the Light Chain of Microtubule-associated Protein 1B and Modulates Neuritogenesis

Opal, P., Garcia, J. J., Propst, F., Matilla, A., Orr, H. T. & Zoghbi, H. Y., Sep 5 2003, In : Journal of Biological Chemistry. 278, 36, p. 34691-34699 9 p.

Research output: Contribution to journalArticle

Nuclear Proteins
Leucine
Light
Spinocerebellar Ataxias
Nuclear Localization Signals
42 Citations (Scopus)

Regional differences of somatic CAG repeat instability do not account for selective neuronal vulnerability in a knock-in mouse model of SCA1

Watase, K., Venken, K. J. T., Sun, Y., Orr, H. T. & Zoghbi, H. Y., Nov 1 2003, In : Human molecular genetics. 12, 21, p. 2789-2795 7 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Corpus Striatum
Mosaicism
Huntington Disease
Cerebellum
244 Citations (Scopus)

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., May 8 2003, In : Neuron. 38, 3, p. 375-387 13 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Serine
Transgenic Mice
Purkinje Cells
Phosphorylation

Spinocerebellar Ataxia 1 (SCA1)

Orr, H. T., Jan 1 2003, Genetics of Movement Disorders. Elsevier Inc., p. 35-43 9 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Spinocerebellar Ataxias
Atrophic Muscular Disorders
Neurodegenerative diseases
Huntington Disease
Neurodegenerative Diseases
2002
201 Citations (Scopus)

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., Sweatt, J. D., Orr, H. T., Paylor, R. & Zoghbi, H. Y., Jun 13 2002, In : Neuron. 34, 6, p. 905-919 15 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Solubility
Purkinje Cells
Mutant Proteins
Proteins
22 Citations (Scopus)

Amino acids in a region of ataxin-1 outside of the polyglutamine tract influence the course of disease in SCA1 transgenic mice

Skinner, P. J., Vierra-Green, C. A., Emamian, E., Zoghbi, H. Y. & Orr, H. T., Dec 1 2002, In : NeuroMolecular Medicine. 1, 1, p. 33-42 10 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Transgenic Mice
Disease Progression
Amino Acids
Proteins
7 Citations (Scopus)

A proposed mechanism of ALS fails the test in vivo

Orr, H. T., Apr 16 2002, In : Nature neuroscience. 5, 4, p. 287-288 2 p.

Research output: Contribution to journalShort survey

Motor Neuron Disease
Poisons
Superoxide Dismutase
Free Radicals
8 Citations (Scopus)

Lurcher, nPIST, and autophagy

Orr, H. T., Aug 29 2002, In : Neuron. 35, 5, p. 813-814 2 p.

Research output: Contribution to journalReview article

Autophagy
Neurologic Mutant Mice
Glutamate Receptors
Ion Channels
Glutamic Acid
12 Citations (Scopus)

Microarrays and polyglutamine disorders: Reports from the hereditary disease array group

Orr, H. T., Aug 15 2002, In : Human molecular genetics. 11, 17, p. 1909-1910 2 p.

Research output: Contribution to journalArticle

Trinucleotide Repeat Expansion
Inborn Genetic Diseases
Huntington Disease
Gene Expression Profiling
Oligonucleotide Array Sequence Analysis
171 Citations (Scopus)

The GSK3β signaling cascade and neurodegenerative disease

Kaytor, M. D. & Orr, H. T., Jun 1 2002, In : Current opinion in neurobiology. 12, 3, p. 275-278 4 p.

Research output: Contribution to journalReview article

Glycogen Synthase Kinase 3
Neurodegenerative Diseases
Neurofibrillary Tangles
Alzheimer Disease
Enzymes
2001
79 Citations (Scopus)

Altered trafficking of membrane proteins in Purkinje cells of SCA1 transgenic mice

Skinner, P. J., Vierra-Green, C. A., Clark, H. B., Zoghbi, H. Y. & Orr, H. T., Jan 1 2001, In : American Journal of Pathology. 159, 3, p. 905-913 9 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Purkinje Cells
Vacuoles
Transgenic Mice
Membrane Proteins