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Research Output 1972 2019

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
46 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
82 Citations (Scopus)

Absolute levels of some free amino acids in normal and biologically fractionated retinas

Cohen, A. I., McDaniel, M. & Orr, H., Dec 1 1973, In : Investigative Ophthalmology. 12, 9, p. 686-693 8 p.

Research output: Contribution to journalArticle

Retina
Amino Acids
gamma-Aminobutyric Acid
Glutamine
Aspartic Acid
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
215 Citations (Scopus)

A gene responsible for cavernous malformations of the brain maps to chromosome 7q

Dubovsky, J., Zabramski, J. M., Kurth, J., Spetzier, R. F., Rich, S. S., Orr, H. T. & Weber, J. L., Mar 1 1995, In : Human molecular genetics. 4, 3, p. 453-458 6 p.

Research output: Contribution to journalArticle

Lod Score
Chromosomes
Central Nervous System Vascular Malformations
Chromosomes, Human, Pair 7
Brain
420 Citations (Scopus)
MHC Class I Genes
Major Histocompatibility Complex
HLA-A Antigens
HLA-B Antigens
Genetic Promoter Regions
200 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
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
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
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
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
29 Citations (Scopus)

An Evaluation of the Significance of Amino Acid Sequence Homologies in Human Histocompatibility Antigens (HLA‐A and HLA‐B) with Immunoglobulins and Other Proteins, Using Relatively Short Sequences

STROMINGER, J. L., ORR, H. T., PARHAM, P., PLOEGH, H. L., MANN, D. L., BILOFSKY, H., SAROFF, H. A., WU, T. T. & KABAT, E. A., Jan 1 1980, In : Scandinavian Journal of Immunology. 11, 6, p. 573-592 20 p.

Research output: Contribution to journalArticle

Immunoglobulin Constant Regions
Amino Acid Sequence Homology
Histocompatibility Antigens
Immunoglobulins
Peptides

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

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
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
7 Citations (Scopus)
Spinocerebellar Ataxias
Trinucleotide Repeats
Antisense RNA
Gene therapy
Molecular Models
23 Citations (Scopus)

A physical linkage map of HLA-A, -G, -7.5p, and -F

Schmidt, C. M. & Orr, H. T., Jan 1 1991, In : Human Immunology. 31, 3, p. 180-185 6 p.

Research output: Contribution to journalArticle

HLA Antigens
MHC Class I Genes
Cell Line
Transformed Cell Line
Pseudogenes
1 Citation (Scopus)

A polymorphic DNA probe, p1-10-2, from chromosome 6

Duvick, L., Rich, S. S. & Orr, H. T., May 25 1990, In : Nucleic acids research. 18, 10, 1 p.

Research output: Contribution to journalArticle

Chromosomes, Human, Pair 6
DNA Probes
Chromosomes
Restriction Fragment Length Polymorphisms
Chromosome
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
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
173 Citations (Scopus)

Assembly and maturation of HLA-A and HLA-B antigens in vivo

Krangel, M. S., Orr, H. T. & Strominger, J. L., Jan 1 1979, In : Cell. 18, 4, p. 979-991 13 p.

Research output: Contribution to journalArticle

HLA-A Antigens
HLA-B Antigens
Oligosaccharides
Mannose
Antigens
7 Citations (Scopus)
Spinocerebellar Ataxias
Transgenes
Histology
Magnetic Resonance Spectroscopy
Gene Expression
193 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
832 Citations (Scopus)

Ataxin-1 nuclear localization and aggregation: Role in polyglutarnine- induced disease in SCA1 transgenic mice

Klement, I. A., Skinner, P. J., Kaytor, M. D., Yi, H., Hersch, S. M., Clark, H. B., Zoghbi, H. Y. & Orr, H. T., Oct 2 1998, In : Cell. 95, 1, p. 41-53 13 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Transgenic Mice
Agglomeration
Purkinje Cells
Ataxia
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
473 Citations (Scopus)

Ataxin-1 with an expanded glutamine tract alters nuclear matrix- associated structures

Skinner, P. J., Koshy, B. T., Cummings, C. J., Klement, I. A., Helin, K., Servadio, A., Zoghbi, H. Y. & Orr, H. T., Nov 24 1997, In : Nature. 389, 6654, p. 971-974 4 p.

Research output: Contribution to journalArticle

Nuclear Matrix
Glutamine
Purkinje Cells
Spinocerebellar Ataxias
COS Cells

Ataxin-1 with an expanded glutamine tract induces disease via alterations in nuclear function

Orr, H. T., Skiement, I., Skinner, P. J., Davidson, J., Burright, E., Cumminigs, C., Koshy, B. & Zoghh, H., Dec 1 1998, In : FASEB Journal. 12, 8

Research output: Contribution to journalArticle

Glutamine
glutamine
mice
mutants
Ataxia
5 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
43 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
16 Citations (Scopus)

Autosomal dominant spinocerebellar ataxia: Locus heterogeneity in a Nebraska kindred

Ranum, L. P. W., Rich, S. S., Nance, M. A., Duvick, L. A., Aita, J. F., Orr, H. T., Anton-Johnson, S. & Schut, L. J., Jan 1 1992, In : Neurology. 42, 2, p. 344-347 4 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Ataxia
HLA-A Antigens
Gait Ataxia
Genetic Heterogeneity
142 Citations (Scopus)

Beyond the qs in the polyglutamine diseases

Orr, H. T., Apr 15 2001, In : Genes and Development. 15, 8, p. 925-932 8 p.

Research output: Contribution to journalReview article

Cysteine Endopeptidases
Ubiquitins
Multienzyme Complexes
Spinocerebellar Ataxias
Huntington Disease
86 Citations (Scopus)

Biosynthesis and cell surface localization of nonglycosylated human histocompatibility antigens

Ploegh, H. L., Orr, H. T. & Strominger, J. L., Jan 1 1981, In : Journal of Immunology. 126, 1, p. 270-275 6 p.

Research output: Contribution to journalArticle

Histocompatibility Antigens
HLA-A Antigens
HLA-B Antigens
Tunicamycin
Carbohydrates
41 Citations (Scopus)

Calcium dynamics and electrophysiological properties of cerebellar Purkinje cells in SCA1 transgenic mice

Inoue, T., Lin, X., Kohlmeier, K. A., Orr, H. T., Zoghbi, H. Y. & Ross, W. N., Apr 19 2001, In : Journal of Neurophysiology. 85, 4, p. 1750-1760 11 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Purkinje Cells
Transgenic Mice
Calcium
Metabotropic Glutamate Receptors
101 Citations (Scopus)

Carbohydrate moeity of HLA antigens. Antigenic properties and amino acid sequences around the site of glycosylation

Parham, P., Alpert, B. N., Orr, H. T. & Strominger, J. L., Jan 1 1977, In : Journal of Biological Chemistry. 252, 21, p. 7555-7567 13 p.

Research output: Contribution to journalArticle

Glycosylation
Glycopeptides
HLA Antigens
Amino Acid Sequence
Carbohydrates
122 Citations (Scopus)

cDNA cloning and characterization of three genes uniquely expressed in cerebellum by Purkinje neurons

Nordquist, D. T., Kozak, C. A. & Orr, H. T., Dec 1 1988, In : Journal of Neuroscience. 8, 12, p. 4780-4789 10 p.

Research output: Contribution to journalArticle

Purkinje Cells
Cerebellum
Organism Cloning
Complementary DNA
Clone Cells
100 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
20 Citations (Scopus)

Cellular distribution of HLA-G mRNA in transgenic mouse placentas

Yelavarthi, K. K., Schmidt, C. M., Ehlenfeldt, R. G., Orr, H. T. & Hunt, J. S., Oct 1 1993, In : Journal of Immunology. 151, 7, p. 3638-3645 8 p.

Research output: Contribution to journalArticle

HLA-G Antigens
Placenta
Transgenic Mice
Messenger RNA
MHC Class I Genes
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
714 Citations (Scopus)

Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1

Cummings, C. J., Mancini, M. A., Antalffy, B., DeFranco, D. B., Orr, H. T. & Zoghbi, H. Y., Jan 1 1998, In : Nature Genetics. 19, 2, p. 148-154 7 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Proteasome Endopeptidase Complex
Ubiquitin
HeLa Cells
Proteins
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
57 Citations (Scopus)

Chromosome 14 and late-onset familial Alzheimer disease (FAD)

Schellenberg, G. D., Payami, H., Wijsman, E. M., Orr, H. T., Goddard, K. A. B., Anderson, L., Nemens, E., White, J. A., Alonso, M. E., Ball, M. J., Kaye, J., Morris, J. C., Chui, H., Sadovnick, A. D., Heston, L. L., Martin, G. M. & Bird, T. D., Jan 1 1993, In : American Journal of Human Genetics. 53, 3, p. 619-628 10 p.

Research output: Contribution to journalArticle

Chromosomes, Human, Pair 14
Alzheimer Disease
Age of Onset
Penetrance
Pedigree
89 Citations (Scopus)

Chrosomal organization of the human major histocompatibility complex class I gene family

Koller, B. H., Geraghty, D. E., DeMars, R., Duvick, L., Rich, S. S. & Orr, H. T., Jan 1 1989, In : Journal of Experimental Medicine. 169, 2, p. 469-480 12 p.

Research output: Contribution to journalArticle

MHC Class I Genes
HLA-A Antigens
Major Histocompatibility Complex
HLA-G Antigens
HLA-C Antigens
40 Citations (Scopus)

Class I-like HLA genes map telomeric to the HLA-A2 locus in human cells

Orr, H. T. & Demars, R., Dec 1 1983, In : Nature. 302, 5908, p. 534-536 3 p.

Research output: Contribution to journalArticle

MHC Class I Genes
HLA-A2 Antigen
Major Histocompatibility Complex
DNA
HLA-C Antigens
200 Citations (Scopus)

Cloning and complete sequence of an HLA-A2 gene: Analysis of two HLA-A alleles at the nucleotide level

Koller, B. H. & Orr, H. T., Jan 1 1985, In : Journal of Immunology. 134, 4, p. 2727-2733 7 p.

Research output: Contribution to journalArticle

HLA-A2 Antigen
HLA-A Antigens
Organism Cloning
Nucleotides
HLA-A3 Antigen
44 Citations (Scopus)

Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Sca1)

Banfi, S., Servadio, A., Chung, M. Y., Capozzoli, F., Duvick, L. A., Elde, R., Zoghbi, H. Y. & Orr, H. T., Jan 1 1996, In : Human molecular genetics. 5, 1, p. 33-40 8 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Organism Cloning
Genes
Spine
Trinucleotide Repeats
91 Citations (Scopus)

Comparison of amino acid sequences of two human histocompatibility antigens, HLA-A2 and HLA-B7: Location of putative alloantigenic sites

Orr, H. T., Lopez De Castro, J. A., Parham, P., Ploegh, H. L. & Strominger, J. L., Jan 1 1979, In : Unknown Journal. 76, 9, p. 4395-4399 5 p.

Research output: Contribution to journalArticle

HLA-B7 Antigen
Papain
HLA-A2 Antigen
Histocompatibility Antigens
Antigens
3 Citations (Scopus)

Comparison of enzymatic activity with evidence of engraftment in patients with inborn errors of metabolism receiving allogeneic marrow transplantation

Blazar, B. R., Whitley, C. B., Desnick, R. J., Pierpont, M. E., Filipovich, A. H., Ramsay, N. K., Kersey, J. H., Orr, H. T., Yasmineh, W. G. & Tsai, M. Y., Sep 18 1986, In : Birth Defects: Original Article Series. 22, 1, p. 135-152 18 p.

Research output: Contribution to journalArticle

Chondro-4-Sulfatase
Iduronidase
Mucopolysaccharidosis VI
Cerebroside-Sulfatase
Metachromatic Leukodystrophy
15 Citations (Scopus)

Comparison of multiple HLA-A alleles at the DNA level by using southern blotting and HLA-A-specific probes

Koller, B. H., Ward, F. E., DeMars, R. & Orr, H. T., Dec 1 1985, In : Journal of Immunology. 135, 6, p. 4229-4234 6 p.

Research output: Contribution to journalArticle

HLA-A Antigens
Southern Blotting
Alleles
DNA
HLA DNA Probes
27 Citations (Scopus)

Complete Amino Acid Sequence of a Papain-Solubilized Human Histocompatibility Antigen, HLA-B7. 1. Isolation and Amino Acid Composition of Fragments and of Tryptic and Chymotryptic Peptides

Castro, J. A. L. D., Orr, H. T., Robb, R. J., Kostyk, T. G., Strominger, J. L. & Mann, D. L., Jan 1 1979, In : Biochemistry. 18, 25, p. 5704-5711 8 p.

Research output: Contribution to journalArticle

HLA-B7 Antigen
Histocompatibility Antigens
Papain
Amino Acid Sequence
Amino Acids
86 Citations (Scopus)

Complete Amino Acid Sequence of a Papain-Solubilized Human Histocompatibility Antigen, HLA-B7. 2. Sequence Determination and Search for Homologies

Orr, H. T., Castro, J. A. L. D., Lancet, D. & Strominger, J. L., Jan 1 1979, In : Biochemistry. 18, 25, p. 5711-5720 10 p.

Research output: Contribution to journalArticle

HLA-B7 Antigen
Histocompatibility Antigens
Papain
Sequence Alignment
Disulfides