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Research Output 1972 2019

76 Citations (Scopus)

Spinocerebellar ataxia type 1

Zoghbi, H. Y. & Orr, H. T., Feb 1995, In : Seminars in Cell Biology. 6, 1, p. 29-35 7 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Alleles
Chromosomes
Dysarthria
Chromosomes, Human, Pair 6

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
5 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
103 Citations (Scopus)

Spinocerebellar ataxia type 1 and Machado-Joseph disease: Incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia

Ranum, L. P. W., Lundgren, J. K., Schut, L. J., Ahrens, M. J., Perlman, S., Aita, J., Bird, T. D., Gomez, C. & Orr, H. T., Jan 1 1995, In : American Journal of Human Genetics. 57, 3, p. 603-608 6 p.

Research output: Contribution to journalArticle

Machado-Joseph Disease
Spinocerebellar Ataxias
Ataxia
Trinucleotide Repeat Expansion
Incidence
140 Citations (Scopus)

Spinocerebellar ataxia type-1 and spinobulbar muscular atrophy gene products interact with glyceraldehyde-3-phosphate dehydrogenase

Koshy, B., Matilla, T., Burright, E. N., Merry, D. E., Fischbeck, K. H., Orr, H. T. & Zoghbi, H. Y., Sep 1 1996, In : Human molecular genetics. 5, 9, p. 1311-1318 8 p.

Research output: Contribution to journalArticle

Atrophic Muscular Disorders
Spinocerebellar Ataxias
Glyceraldehyde-3-Phosphate Dehydrogenases
Androgen Receptors
Two-Hybrid System Techniques
24 Citations (Scopus)
Spinocerebellar Ataxias
Neurodegenerative Diseases
Transgenic Mice
Purkinje Cells
Mutant Proteins
278 Citations (Scopus)

Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11

Ranum, L. P. W., Schut, L. J., Lundgren, J. K., Orr, H. T. & Livingston, D. M., Nov 1994, In : Nature Genetics. 8, 3, p. 280-284 5 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Chromosomes, Human, Pair 11
Ataxia
Cerebellar Ataxia
Chromosomes
1 Citation (Scopus)

Structural and sequence homologies between HLA-A and HLA-B antigens and immunoglobulins

Strominger, J. L., Kabat, E. A., Bilofsky, H., Mann, D., Orr, H., Parham, P., Ploegh, H., Robb, R., Terhorst, C. & Wu, T. T., Nov 19 1979, In : Transplantation proceedings. 11, 2, 1 p.

Research output: Contribution to journalArticle

HLA-A Antigens
HLA-B Antigens
Sequence Homology
HLA Antigens
Immunoglobulins
3 Citations (Scopus)

Structural aspects of the products of the human major histocompatibility complex

Fuks, A., Kaufman, J. F., Orr, H. T., Parham, P., Robb, R. R., Terhorst, C. & Strominger, J. L., Dec 1 1977, In : Transplantation Proceedings. 9, 4, p. 1685-1689 5 p.

Research output: Contribution to journalArticle

Histocompatibility Antigens Class II
Sequence Homology
Major Histocompatibility Complex
B-Lymphocytes

Structural studies of the membrane-associated products of the human major histocompatibility complex.

Orr, H., Fuks, A., Kaufman, J., Lancet, D., Ploegh, H., Robb, R., Strominger, J. & Parham, P., Jan 1 1980, In : Advances in pathobiology. 7, p. 318-330 13 p.

Research output: Contribution to journalReview article

28 Citations (Scopus)

Structure, Function, and Biosynthesis of the Major Human Histocompatibility Antigens (HLA‐A and HLA‐B)

Krangel, M. S., Orr, H. T. & Strominger, J. L., Jun 1980, In : Scandinavian Journal of Immunology. 11, 6, p. 561-571 11 p.

Research output: Contribution to journalEditorial

Histocompatibility Antigens
Antigens
Human Chromosomes
HLA Antigens
Liposomes
65 Citations (Scopus)

Structure of crossreactive human histocompatibility antigens HLA-A28 and HLA-A2: Possible implications for the generation of HLA polymorphism

Lopez de Castro, J. A., Strominger, J. L., Strong, D. M. & Orr, H. T., Jan 1 1982, In : Proceedings of the National Academy of Sciences of the United States of America. 79, 12 I, p. 3813-3817 5 p.

Research output: Contribution to journalArticle

HLA-A2 Antigen
Histocompatibility Antigens
HLA-B7 Antigen
Antigenic Variation
Gene Conversion
18 Citations (Scopus)

Successful donor cell engraftment in a recipient of bone marrow from a cadaveric donor

Blazar, B. R., Lasky, L. C., Perentesis, J. P., Watson, K. V., Steinberg, S. E., Filipovich, A. H., Orr, H. T. & Ramsay, N. K., Oct 8 1986, In : Blood. 67, 6, p. 1655-1660 6 p.

Research output: Contribution to journalArticle

Transplantation (surgical)
Trypan Blue
Liquid nitrogen
Grafts
Assays
69 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
18 Citations (Scopus)

Susceptibility to cell death induced by mutant SV40 T-antigen correlates with purkinje neuron functional development

Feddersen, R. M., Yunis, W. S., O'Donnell, M. A., Ebner, T. J., Shen, L., Iadecola, C., Orr, H. T. & Clark, H. B., Jan 1997, In : Molecular and Cellular Neurosciences. 9, 1, p. 42-62 21 p.

Research output: Contribution to journalArticle

Polyomavirus Transforming Antigens
Purkinje Cells
Cell Death
Viral Tumor Antigens
Transgenes
3 Citations (Scopus)

Synthetic activity of corneal endothelium.

Riley, M. V., Hodson, S. A. & Orr, H. T., Aug 1 1972, In : Israel Journal of Medical Sciences. 8, 8, p. 1519-1522 4 p.

Research output: Contribution to journalArticle

Phosphorus Isotopes
Sodium Isotopes
Trichloroacetic acid
Carbon Isotopes
Paper Electrophoresis
55 Citations (Scopus)
Purkinje Cells
Ataxia
Gait
Alleles
Antisense RNA
17 Citations (Scopus)

Temporal and spatial expression of HLA-G messenger RNA in extraembryonic tissues of transgenic mice

Schmidt, C. M., Hua Lin Chen, L. C., Chiu, I., Ehlenfeldt, R. G., Hunt, J. S. & Orr, H. T., Jan 1 1995, In : Journal of Immunology. 155, 2, p. 619-629 11 p.

Research output: Contribution to journalArticle

HLA-G Antigens
Transgenic Mice
Messenger RNA
Trophoblasts
Transgenes
81 Citations (Scopus)

The apolipoprotein E/CI/CII gene cluster and late-onset Alzheimer disease

Yu, C. E., Payami, H., Olson, J. M., Boehnke, M., Wijsman, E. M., Orr, H. T., Kukull, W. A., Goddard, K. A. B., Nemens, E., White, J. A., Alonso, M. E., Taylor, T. D., Ball, M. J., Kaye, J., Morris, J., Chui, H., Sadovnick, A. D., Martin, G. M., Larson, E. B., Heston, L. L. & 2 others, Bird, T. D. & Schellenberg, G. D., Mar 31 1994, In : American Journal of Human Genetics. 54, 4, p. 631-642 12 p.

Research output: Contribution to journalArticle

Phentolamine
Apolipoproteins E
Multigene Family
Alzheimer Disease
Gene Frequency
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
225 Citations (Scopus)

The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1

Matilla, A., Koshy, B. T., Cummings, C. J., Isobe, T., Orr, H. T. & Zoghbi, H. Y., Nov 24 1997, In : Nature. 389, 6654, p. 974-978 5 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Nuclear Proteins
Leucine
Purkinje Cells
Glutamine
17 Citations (Scopus)

The c-fos gene and early-onset familial Alzheimer's disease

Bonnycastle, L. L. C., Yu, C. E., Wijsman, E. M., Orr, H. T., Patterson, D., Clancy, K. P., Goddard, K. A. B., Alonso, M. E., Nemens, E., White, J. A., Heston, L. L., Martin, G. M., Bird, T. D. & Schellenberg, G. D., Sep 17 1993, In : Neuroscience Letters. 160, 1, p. 33-36 4 p.

Research output: Contribution to journalArticle

fos Genes
Alzheimer Disease
Yeast Artificial Chromosomes
Chromosomes, Human, Pair 14
Chromosomes
168 Citations (Scopus)

The distribution of taurine in the vertebrate retina

Orr, H. T., Cohen, A. I. & Lowry, O. H., Mar 1976, In : Journal of Neurochemistry. 26, 3, p. 609-611 3 p.

Research output: Contribution to journalArticle

Taurine
Macaca mulatta
Haplorhini
Vertebrates
Retina
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
31 Citations (Scopus)

The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus

Kwiatkowski, T. J., Orr, H. T., Banfi, S., McCall, A. E., Jodice, C., Persichetti, F., Novelletto, A., LeBorgne-DeMarquoy, F., Duvick, L. A., Frontali, M., Subramony, S. H., Beaudet, A. L., Terrenato, L., Zoghbi, H. Y. & Ranum, L. P. W., Jan 1 1993, In : American Journal of Human Genetics. 53, 2, p. 391-400 10 p.

Research output: Contribution to journalArticle

Dinucleotide Repeats
Spinocerebellar Ataxias
Dominant Genes
Genetic Recombination
Lod Score
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
172 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
92 Citations (Scopus)

The heavy chain of human histocompatibility antigen HLA-B7 contains an immunoglobulin-like region

Orr, H. T., Lancet, D., Robb, R. J., De Castro, J. A. L. & Strominger, J. L., Dec 1 1979, In : Nature. 282, 5736, p. 266-270 5 p.

Research output: Contribution to journalArticle

HLA-B7 Antigen
Histocompatibility Antigens
HLA Antigens
Disulfides
Immunoglobulins
103 Citations (Scopus)

The HLA class I gene family includes at least six genes and twelve pseudogenes and gene fragments

Geraghty, D. E., Koller, B. H., Hansen, J. A. & Orr, H. T., Jan 1 1992, In : Journal of Immunology. 149, 6, p. 1934-1946 13 p.

Research output: Contribution to journalArticle

MHC Class I Genes
Pseudogenes
Genes
Cosmids
Clone Cells
17 Citations (Scopus)

The ins and outs of a polyglutamine neurodegenerative disease: Spinocerebellar ataxia type 1 (SCA1)

Orr, H. T., Jun 2000, In : Neurobiology of Disease. 7, 3, p. 129-134 6 p.

Research output: Contribution to journalReview article

Spinocerebellar Ataxias
Neurodegenerative Diseases
Mutant Proteins
Glutamine
Transgenic Mice
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
37 Citations (Scopus)
Butyric Acid
Taurine
Glycine
Retina
Glutamic Acid

The molecular genetics of spinocerebellar degenerations

Zoghbi, H. Y. & Orr, H. T., Dec 1 1997, In : FASEB Journal. 11, 9

Research output: Contribution to journalArticle

Spinocerebellar Degenerations
Purkinje Cells
molecular genetics
Molecular Biology
Spinocerebellar Ataxias
115 Citations (Scopus)

The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract

Yue, S., Serra, H. G., Zoghbi, H. Y. & Orr, H. T., Jan 1 2001, In : Human molecular genetics. 10, 1, p. 25-30 6 p.

Research output: Contribution to journalArticle

RNA
Spinocerebellar Ataxias
Neurodegenerative Diseases
Transgenic Mice
Alleles
22 Citations (Scopus)

The transcription factor E2F-1 in SV40 T antigen-induced cerebellar Purkinje cell degeneration

Athanasiou, M. C., Yunis, W., Coleman, N., Ehlenfeldt, R., Clark, H. B., Orr, H. T. & Feddersen, R. M., Sep 1998, In : Molecular and Cellular Neurosciences. 12, 1-2, p. 16-28 13 p.

Research output: Contribution to journalArticle

E2F1 Transcription Factor
Polyomavirus Transforming Antigens
Purkinje Cells
Viral Tumor Antigens
E2F Transcription Factors
106 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
68 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
4 Citations (Scopus)

Toward understanding polyglutamine-induced neurological disease in spinocerebellar ataxia type 1

Orr, H. T. & Zoghbi, H. Y., Dec 1 1996, In : Cold Spring Harbor symposia on quantitative biology. 61, p. 649-657 9 p.

Research output: Contribution to journalArticle

Spinocerebellar Degenerations
Spinocerebellar Ataxias
Cerebellar Ataxia
Animals
Alleles
6 Citations (Scopus)
DNA Repeat Expansion
Frontotemporal Dementia
Poisons
Amyotrophic Lateral Sclerosis
Dementia
177 Citations (Scopus)
MHC Class I Genes
Major Histocompatibility Complex
HLA-A Antigens
HLA-B Antigens
beta 2-Microglobulin
48 Citations (Scopus)

Transfer of cloned human class I major histocompatibility complex genes into HLA mutant human lymphoblastoid cells

Shimizu, Y., Koller, B., Geraghty, D., Orr, H., Shaw, S., Kavathas, P. & DeMars, R., Jan 1 1986, In : Molecular and cellular biology. 6, 4, p. 1074-1087 14 p.

Research output: Contribution to journalArticle

Major Histocompatibility Complex
MHC Class I Genes
HLA-A2 Antigen
Genes
Human Herpesvirus 4

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., Nov 1 2019, In : Kaohsiung Journal of Medical Sciences. 35, 11, p. 679-685 7 p.

Research output: Contribution to journalArticle

Open Access
Spinocerebellar Ataxias
Motor Neurons
Cerebellum
Motor Activity
Exercise
922 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
6 Citations (Scopus)
Nervous System Diseases
Nucleotides
Mutation
9 Citations (Scopus)

Unstable trinucleotide repeats and the diagnosis of neurodegenerative disease

Orr, H. T., Jun 1994, In : Human pathology. 25, 6, p. 598-601 4 p.

Research output: Contribution to journalArticle

Trinucleotide Repeats
Neurodegenerative Diseases
Genetic Anticipation
Mutation
DNA
Bone Marrow Transplantation
Genetic Markers
9 Citations (Scopus)

Use of DNA probes from the 5′ flanking region of the HLA-B gene to examine polymorphism at the HLA-B locus

Steere, K., Sidwell, B., Leach, R., Ward, F. E., Taurog, J. D. & Orr, H. T., Jun 1986, In : Human Immunology. 16, 2, p. 137-147 11 p.

Research output: Contribution to journalArticle

HLA-B Antigens
5' Flanking Region
DNA Probes
HLA-C Antigens
Genes
44 Citations (Scopus)

Use of HLA loss mutants to analyse the structure of the human major histocompatibility complex

Orr, H. T., Bach, F. H., Ploegh, H. L., Strominger, J. L., Kavathas, P. & Demars, R., Dec 1 1982, In : Nature. 296, 5856, p. 454-456 3 p.

Research output: Contribution to journalArticle

HLA-B8 Antigen
Major Histocompatibility Complex
Clone Cells
MHC Class I Genes
Recombinant DNA
11 Citations (Scopus)
HLA-A Antigens
HLA-B Antigens
Southern Blotting
DNA
Population
8 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

Open Access
Cerebellum
Brain Stem
Optical Coherence Tomography
Immersion
Nerve Fibers