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Research Output 1972 2019

2019

Treadmill training increases the motor activity and neuron survival of the cerebellum in a mouse model of spinocerebellar ataxia type 1

Chuang, C. S., Chang, J. C., Soong, B. W., Chuang, S. F., Lin, T. T., Cheng, W. L., Orr, H. T. & Liu, C. S., Jan 1 2019, In : Kaohsiung Journal of Medical Sciences.

Research output: Contribution to journalArticle

Open Access
Spinocerebellar Ataxias
Motor Neurons
Cerebellum
Motor Activity
Exercise
2018
3 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
6 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

Spinocerebellar Ataxias
Pathology
Cerebellum
Neurons
Purkinje Cells
3 Citations (Scopus)

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
2 Citations (Scopus)

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

Open Access
Spinocerebellar Ataxias
p21-Activated Kinases
Pharmacology
Ataxin-1
Drosophila
Spinocerebellar Ataxias
Optical Coherence Tomography
Atrophy
Neurodegenerative Diseases
Birefringence
1 Citation (Scopus)

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

Open Access
RNA Splicing
RNA-Binding Proteins
Spliceosomes
RNA
Processing
1 Citation (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 1 2018, In : Neurobiology of Disease. 116, p. 93-105 13 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Purkinje Cells
Ataxia
Cyclic AMP-Dependent Protein Kinases
Phosphorylation

Serial optical coherence scanner for imaging neurodegenerative diseases

Liu, C. J., Rainwater, O., Orr, H. T. & Akkin, T., Jan 1 2018, Clinical and Translational Biophotonics, TRANSLATIONAL 2018. OSA - The Optical Society, Vol. Part F91-TRANSLATIONAL 2018.

Research output: Chapter in Book/Report/Conference proceedingConference contribution

Neurodegenerative diseases
Optical tomography
Brain
Visualization
Tissue
3 Citations (Scopus)

Spinocerebellar ataxia type 1: Molecular mechanisms of neurodegeneration and preclinical studies

Pérez Ortiz, J. M. & Orr, H. T., Jan 1 2018, Advances in Experimental Medicine and Biology. Springer New York LLC, p. 135-145 11 p. (Advances in Experimental Medicine and Biology; vol. 1049).

Research output: Chapter in Book/Report/Conference proceedingChapter

Spinocerebellar Ataxias
Phosphorylation
Purkinje Cells
Proteins
RNA Splicing
2017
23 Citations (Scopus)

Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans

Lu, H. C., Tan, Q., Rousseaux, M. W. C., Wang, W., Kim, J. Y., Richman, R., Wan, Y. W., Yeh, S. Y., Patel, J. M., Liu, X., Lin, T., Lee, Y., Fryer, J. D., Han, J., Chahrour, M., Finnell, R. H., Lei, Y., Zurita-Jimenez, M. E., Ahimaz, P., Anyane-Yeboa, K. & 17 others, Van Maldergem, L., Lehalle, D., Jean-Marcais, N., Mosca-Boidron, A. L., Thevenon, J., Cousin, M. A., Bro, D. E., Lanpher, B. C., Klee, E. W., Alexander, N., Bainbridge, M. N., Orr, H. T., Sillitoe, R. V., Ljungberg, M. C., Liu, Z., Schaaf, C. P. & Zoghbi, H. Y., Mar 30 2017, In : Nature Genetics. 49, 4, p. 527-536 10 p.

Research output: Contribution to journalArticle

Phenotype
Mutation
Middle Hypothalamus
Attention Deficit Disorder with Hyperactivity
Interpersonal Relations
58 Citations (Scopus)

Polyglutamine spinocerebellar ataxias-from genes to potential treatments

Paulson, H. L., Shakkottai, V. G., Clark, H. B. & Orr, H. T., Sep 19 2017, In : Nature Reviews Neuroscience. 18, 10, p. 613-626 14 p.

Research output: Contribution to journalReview article

Spinocerebellar Ataxias
Genes
Neurodegenerative Diseases
Glutamine
polyglutamine
6 Citations (Scopus)

Visualizing and mapping the cerebellum with serial optical coherence scanner

Liu, C. J., Williams, K. E., Orr, H. T. & Akkin, T., Jan 1 2017, In : Neurophotonics. 4, 1, 011006.

Research output: Contribution to journalArticle

Cerebellum
Brain Stem
Optical Coherence Tomography
Immersion
Nerve Fibers
2016
31 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
8 Citations (Scopus)
Neurodegenerative diseases
Neurodegenerative Diseases
Huntington Disease
Spinocerebellar Ataxias
Therapeutics
28 Citations (Scopus)

Extensive cryptic splicing upon loss of RBM17 and TDP43 in neurodegeneration models

Tan, Q., Yalamanchili, H. K., Park, J., De Maio, A., Lu, H. C., Wan, Y. W., White, J. J., Bondar, V. V., Sayegh, L. S., Liu, X., Gao, Y., Sillitoe, R. V., Orr, H. T., Liu, Z. & Zoghbi, H. Y., Jan 1 2016, In : Human molecular genetics. 25, 23, p. 5083-5093 11 p.

Research output: Contribution to journalArticle

RNA-Binding Proteins
Cell Survival
Protein Splicing
Genes
Survival
63 Citations (Scopus)

Tolerance is established in polyclonal CD4 + T cells by distinct mechanisms, according to self-peptide expression patterns

Malhotra, D., Linehan, J. L., Dileepan, T., Lee, Y. J., Purtha, W. E., Lu, J. V., Nelson, R. W., Fife, B. T., Orr, H. T., Anderson, M. S., Hogquist, K. A. & Jenkins, M. K., Feb 1 2016, In : Nature immunology. 17, 2, p. 187-195 9 p.

Research output: Contribution to journalArticle

T-Lymphocytes
Peptides
Clonal Deletion
Self Tolerance
T-Lymphocyte Epitopes
2015
14 Citations (Scopus)

A native interactor scaffolds and stabilizes toxic Ataxin-1 oligomers in SCA1

Lasagna-Reeves, C. A., Rousseaux, M. W. C., Guerrero-Munoz, M. J., Park, J., Jafar-Nejad, P., Richman, R., Lu, N., Sengupta, U., Litvinchuk, A., Orr, H. T., Kayed, R. & Zoghbi, H. Y., May 19 2015, In : eLife. 4, MAY, p. 1-46 46 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Poisons
Oligomers
Scaffolds
Brain
7 Citations (Scopus)
Spinocerebellar Ataxias
Transgenes
Histology
Magnetic Resonance Spectroscopy
Gene Expression
9 Citations (Scopus)

Ataxin-1 oligomers induce local spread of pathology and decreasing them by passive immunization slows spinocerebellar ataxia type 1 phenotypes

Lasagna-Reeves, C. A., Rousseaux, M. W. C., Guerrero-Munoz, M. J., Vilanova-Velez, L., Park, J., See, L., Jafar-Nejad, P., Richman, R., Orr, H. T., Kayed, R. & Zoghbi, H. Y., Dec 17 2015, In : eLife. 4, DECEMBER2015, e10891.

Research output: Contribution to journalArticle

Immunization
Spinocerebellar Ataxias
Passive Immunization
Pathology
Oligomers
24 Citations (Scopus)

Early activation of microglia and astrocytes in mouse models of spinocerebellar ataxia type 1

Cvetanovic, M., Ingram, M., Orr, H. T. & Opal, P., Mar 9 2015, In : Neuroscience. 289, p. 289-299 11 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Microglia
Neuroglia
Astrocytes
Disease Progression
42 Citations (Scopus)

Neuronal atrophy early in degenerative ataxia is a compensatory mechanism to regulate membrane excitability

Dell’Orco, J. M., Wasserman, A. H., Chopra, R., Ingram, M. A. C., Hu, Y. S., Singh, V., Wulff, H., Opal, P., Orr, H. T. & Shakkottai, V. G., Aug 12 2015, In : Journal of Neuroscience. 35, 32, p. 11292-11307 16 p.

Research output: Contribution to journalArticle

Purkinje Cells
Ataxia
Atrophy
Spinocerebellar Ataxias
Membranes
48 Citations (Scopus)

Pumilio1 haploinsufficiency leads to SCA1-like neurodegeneration by increasing wild-type Ataxin1 levels

Gennarino, V. A., Singh, R. K., White, J. J., De Maio, A., Han, K., Kim, J. Y., Jafar-Nejad, P., Di Ronza, A., Kang, H., Sayegh, L. S., Cooper, T. A., Orr, H. T., Sillitoe, R. V. & Zoghbi, H. Y., Mar 15 2015, In : Cell. 160, 6, p. 1087-1098 12 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Haploinsufficiency
Neurodegenerative diseases
Breeding
RNA-Binding Proteins
2014

Animal Models of Spinocerebellar Ataxia Type 1

Opal, P. & Orr, H. T., Oct 29 2014, Movement Disorders: Genetics and Models: Second Edition. Elsevier Inc., p. 979-990 12 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Spinocerebellar Ataxias
Animal Models
Intranuclear Inclusion Bodies
Serine
Ataxin-1
28 Citations (Scopus)

Prioritized research recommendations from the National Institute of Neurological Disorders and Stroke Parkinson's Disease 2014 Conference

Sieber, B. A., Landis, S., Koroshetz, W., Bateman, R., Siderowf, A., Galpern, W. R., Dunlop, J., Finkbeiner, S., Sutherland, M., Wang, H., Lee, V. M. Y., Orr, H. T., Gwinn, K., Ludwig, K., Taylor, A., Torborg, C. & Montine, T. J., Jan 1 2014, In : Annals of Neurology. 76, 4, p. 469-472 4 p.

Research output: Contribution to journalEditorial

National Institute of Neurological Disorders and Stroke
Parkinson Disease
Biomedical Research
Research
2013
Ataxin-1

One family's search to explain a fatal neurological disorder

Mollema, N. J. & Orr, H. T., Jan 1 2013, American Scientist, 101, 6, p. 442-449 8 p.

Research output: Contribution to specialist publicationArticle

Ataxia
Nervous System Diseases
Fathers
Aptitude
Shoes
10 Citations (Scopus)

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., May 29 2013, In : Journal of Neuroscience. 33, 22, p. 9328-9336 9 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Phosphotransferases
Phenotype
Trinucleotide Repeats
Protein-Serine-Threonine Kinases
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
73 Citations (Scopus)

RAS-MAPK-MSK1 pathway modulates ataxin 1 protein levels and toxicity in SCA1

Park, J., Al-Ramahi, I., Tan, Q., Mollema, N., Diaz-Garcia, J. R., Gallego-Flores, T., Lu, H. C., Lagalwar, S., Duvick, L., Kang, H., Lee, Y., Jafar-Nejad, P., Sayegh, L. S., Richman, R., Liu, X., Gao, Y., Shaw, C. A., Arthur, J. S. C., Orr, H. T., Westbrook, T. F. & 2 others, Botas, J. & Zoghbi, H. Y., May 30 2013, In : Nature. 498, 7454, p. 325-331 7 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Neurodegenerative Diseases
Drosophila
Proteins
Genetic Testing
7 Citations (Scopus)

Regulation of ataxin-1 phosphorylation and its impact on biology

Lagalwar, S. & Orr, H. T., Jul 24 2013, Trinucleotide Repeat Protocols. p. 201-209 9 p. (Methods in Molecular Biology; vol. 1010).

Research output: Chapter in Book/Report/Conference proceedingChapter

Spinocerebellar Ataxias
Phosphorylation
Cytoplasm
Purkinje Cells
Cyclic AMP-Dependent Protein Kinases
104 Citations (Scopus)

The unstable repeats-Three evolving faces of neurological disease

Nelson, D. L., Orr, H. T. & Warren, S. T., Jan 1 2013, In : Neuron. 77, 5, p. 825-843 19 p.

Research output: Contribution to journalReview article

Poisons
Neurosciences
Nervous System Diseases
Microsatellite Repeats
Nucleotides
6 Citations (Scopus)
DNA Repeat Expansion
Frontotemporal Dementia
Poisons
Amyotrophic Lateral Sclerosis
Dementia
2012
101 Citations (Scopus)

Cell biology of spinocerebellar ataxia

Orr, H. T., Apr 1 2012, In : Journal of Cell Biology. 197, 2, p. 167-177 11 p.

Research output: Contribution to journalReview article

Spinocerebellar Ataxias
Cell Biology
Proteins
Cerebellar Ataxia
Ataxia
11 Citations (Scopus)

Genetically engineered mouse models of the trinucleotide-repeat spinocerebellar ataxias

Ingram, M. A. C., Orr, H. T. & Clark, H. B., May 1 2012, In : Brain Research Bulletin. 88, 1, p. 33-42 10 p.

Research output: Contribution to journalReview article

Spinocerebellar Ataxias
Trinucleotide Repeats
Mutant Proteins
Trinucleotide Repeat Expansion
Ataxia
50 Citations (Scopus)

Polyglutamine neurodegeneration: Expanded glutamines enhance native functions

Orr, H. T., Jun 1 2012, In : Current Opinion in Genetics and Development. 22, 3, p. 251-255 5 p.

Research output: Contribution to journalReview article

Glutamine
Trinucleotide Repeats
Neurodegenerative Diseases
polyglutamine
Proteins
21 Citations (Scopus)

SCA1-Phosphorylation, a regulator of Ataxin-1 function and pathogenesis

Orr, H. T., Dec 1 2012, In : Progress in Neurobiology. 99, 3, p. 179-185 7 p.

Research output: Contribution to journalReview article

Spinocerebellar Ataxias
Phosphorylation
Trinucleotide Repeats
Post Translational Protein Processing
Neurodegenerative Diseases
2011
35 Citations (Scopus)

14-3-3 Binding to ataxin-1(ATXN1) regulates its dephosphorylation at Ser-776 and transport to the nucleus

Lai, S., O'Callaghan, B., Zoghbi, H. Y. & Orr, H. T., Oct 7 2011, In : Journal of Biological Chemistry. 286, 40, p. 34606-34616 11 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Phosphorylation
Ataxin-1
Purkinje Cells
Pathology
47 Citations (Scopus)

Abnormalities in the climbing fiber-Purkinje cell circuitry contribute to neuronal dysfunction in ATXN1[82Q] mice

Barnes, J. A., Ebner, B. A., Duvick, L. A., Gao, W., Chen, G., Orr, H. T. & Ebner, T. J., Sep 7 2011, In : Journal of Neuroscience. 31, 36, p. 12778-12789 12 p.

Research output: Contribution to journalArticle

Purkinje Cells
Optical Imaging
Synaptic Transmission
Vesicular Glutamate Transport Protein 2
Flavoproteins
75 Citations (Scopus)

Aminopyridines correct early dysfunction and delay neurodegeneration in a mouse model of spinocerebellar ataxia type

Hourez, R., Servais, L., Orduz, D., Gall, D., Millard, I., de Kerchove d'Exaerde, A., Cheron, G., Orr, H. T., Pandolfo, M. & Schiffmann, S. N., Aug 17 2011, In : Journal of Neuroscience. 31, 33, p. 11795-11807 13 p.

Research output: Contribution to journalArticle

Aminopyridines
Spinocerebellar Ataxias
Purkinje Cells
Atrophy
Animal Behavior
2 Citations (Scopus)

Are Polyglutamine Diseases Expanding?

Orr, H. T., May 12 2011, In : Neuron. 70, 3, p. 377-378 2 p.

Research output: Contribution to journalShort survey

Antisense RNA
Peptides
Disease Progression
Neurons
polyglutamine
44 Citations (Scopus)

ATXN1 Protein Family and CIC Regulate Extracellular Matrix Remodeling and Lung Alveolarization

Lee, Y., Fryer, J. D., Kang, H., Crespo-Barreto, J., Bowman, A. B., Gao, Y., Kahle, J. J., Hong, J. S., Kheradmand, F., Orr, H. T., Finegold, M. J. & Zoghbi, H. Y., Oct 18 2011, In : Developmental Cell. 21, 4, p. 746-757 12 p.

Research output: Contribution to journalArticle

Matrix Metalloproteinases
Extracellular Matrix
Genes
Lung
Defects
86 Citations (Scopus)

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. & Zoghbi, H. Y., Nov 4 2011, In : Science. 334, 6056, p. 690-693 4 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Neurodegenerative Diseases
Phenotype
Poisons
Ataxia
18 Citations (Scopus)

FTD and ALS: Genetic ties that bind

Orr, H. T., Oct 20 2011, In : Neuron. 72, 2, p. 189-190 2 p.

Research output: Contribution to journalShort survey

Neurodegenerative Diseases
Mutation
Frontotemporal Dementia With Motor Neuron Disease
18 Citations (Scopus)

In vivo monitoring of recovery from neurodegeneration in conditional transgenic SCA1 mice

Oz, G., Vollmers, M. L., Nelson, C. D., Shanley, R. M., Eberly, L. E., Orr, H. T. & Clark, H. B., Dec 1 2011, In : Experimental Neurology. 232, 2, p. 290-298 9 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Inositol
Doxycycline
Taurine
Pathology
35 Citations (Scopus)

Partial loss of Tip60 slows mid-stage neurodegeneration in a spinocerebellar ataxia type 1 (SCA1) mouse model

Gehrking, K. M., Andresen, J. M., Duvick, L., Lough, J., Zoghbi, H. Y. & Orr, H. T., Jun 1 2011, In : Human molecular genetics. 20, 11, p. 2204-2212 9 p., ddr108.

Research output: Contribution to journalArticle

tat Gene Products
Spinocerebellar Ataxias
Disease Progression
HMGB Proteins
Ataxin-1
38 Citations (Scopus)
Spinocerebellar Ataxias
Haploinsufficiency
Virulence
Phenotype
14-3-3 Proteins
2010
54 Citations (Scopus)
Spinocerebellar Ataxias
Magnetic Resonance Spectroscopy
Inositol
Transgenic Mice
Disease Progression
6 Citations (Scopus)

Nuclear ataxias.

Orr, H. T., May 1 2010, In : Cold Spring Harbor perspectives in biology. 2, 5

Research output: Contribution to journalReview article

Ataxia
Cytology
Neurodegenerative diseases
Neurosciences
Cell Nucleus
76 Citations (Scopus)

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., Jul 2010, In : PLoS Genetics. 6, 7, p. 1-17 17 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
pathogenesis
neurodegenerative diseases
gene expression
disease models