If you made any changes in Pure, your changes will be visible here soon.

Research Output 1972 2019

2001
143 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
42 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

Expanding our understanding of polyglutamine disease through transgenic mice

Davidson, J. D. & Orr, H. T., May 17 2001, In : Current Genomics. 2, 1, p. 27-39 13 p.

Research output: Contribution to journalArticle

Transgenic Mice
Atrophic Muscular Disorders
Spinocerebellar Ataxias
Huntington Disease
Androgen Receptors
3 Citations (Scopus)

Hereditary ataxia. An unfolded protein.

Orr, H. T., Jan 1 2001, In : Lancet. 358 Suppl

Research output: Contribution to journalArticle

Nerve Tissue Proteins
Spinocerebellar Degenerations
Spinocerebellar Ataxias
Trinucleotide Repeats
Protein Unfolding
400 Citations (Scopus)

Over-expression of inducible HSP70 chaperone suppresses neuropathology and improves motor function in SCA1 mice

Cummings, C. J., Sun, Y., Opal, P., Antalffy, B., Mestril, R., Orr, H. T., Dillmann, W. H. & Zoghbi, H. Y., Jul 1 2001, In : Human Molecular Genetics. 10, 14, p. 1511-1518 8 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Intranuclear Inclusion Bodies
Molecular Chaperones
Proteins
Trinucleotide Repeats
8 Citations (Scopus)

Qs in the nucleus

Orr, H. T., Sep 27 2001, In : Neuron. 31, 6, p. 875-876 2 p.

Research output: Contribution to journalReview article

Retinal Degeneration
Poisons
Mutant Proteins
Neurodegenerative Diseases
Transcription Factors
31 Citations (Scopus)

Reduction of Purkinje cell pathology in SCA1 transgenic mice by p53 deletion

Shahbazian, M. D., Orr, H. T. & Zoghbi, H. Y., Jan 1 2001, In : Neurobiology of Disease. 8, 6, p. 974-981 8 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Purkinje Cells
Transgenic Mice
Pathology
Apoptosis
25 Citations (Scopus)

RNA targets of the fragile X Protein

Kaytor, M. D. & Orr, H. T., Nov 30 2001, In : Cell. 107, 5, p. 555-557 3 p.

Research output: Contribution to journalReview article

Fragile X Syndrome
Medical Genetics
Genomics
Drosophila
RNA
55 Citations (Scopus)

SCA1 molecular genetics: A history of a 13 year collaboration against glutamines

Orr, H. T. & Zoghbi, H. Y., Oct 1 2001, In : Human Molecular Genetics. 10, 20, p. 2307-2311 5 p.

Research output: Contribution to journalReview article

Spinocerebellar Ataxias
Glutamine
Molecular Biology
Trinucleotide Repeat Expansion
Mutant Proteins
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
2000
1007 Citations (Scopus)

Glutamine repeats and neurodegeneration

Zoghbi, H. Y. & Orr, H. T., Jun 24 2000, In : Annual Review of Neuroscience. 23, p. 217-247 31 p.

Research output: Contribution to journalReview article

Glutamine
Neurodegenerative Diseases
Trinucleotide Repeat Expansion
Atrophic Muscular Disorders
Spinocerebellar Ataxias
69 Citations (Scopus)

Identification and characterization of an ataxin-1-interacting protein: A1Up, a ubiquitin-like nuclear protein

Davidson, J. D., Riley, B., Burright, E. N., Duvick, L. A., Zoghbi, H. Y. & Orr, H. T., Sep 22 2000, In : Human molecular genetics. 9, 15, p. 2305-2312 8 p.

Research output: Contribution to journalArticle

Ubiquitins
Nuclear Proteins
Spinocerebellar Ataxias
Ubiquitin
Proteins
501 Citations (Scopus)

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., McCall, A., Canal, I., Orr, H. T., Zoghbi, H. Y. & Botas, J., Nov 2 2000, In : Nature. 408, 6808, p. 101-106 6 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Genes
Neurodegenerative Diseases
Proteins
Protein Folding
294 Citations (Scopus)

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

Lin, X., Antalffy, B., Kang, D., Orr, H. T. & Zoghbi, H. Y., Feb 1 2000, In : Nature neuroscience. 3, 2, p. 157-163 7 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Down-Regulation
Genes
Gene Expression
Poisons
68 Citations (Scopus)

Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus

Lorenzetti, D., Watase, K., Xu, B., Matzuk, M. M., Orr, H. T. & Zoghbi, H. Y., Mar 22 2000, In : Human molecular genetics. 9, 5, p. 779-785 7 p.

Research output: Contribution to journalArticle

Ataxia
Spinocerebellar Ataxias
Gene Knock-In Techniques
Mothers
Mutant Proteins
57 Citations (Scopus)

Reversing neurodegeneration: A promise unfolds

Orr, H. T. & Zoghbi, H. Y., Mar 31 2000, In : Cell. 101, 1, p. 1-4 4 p.

Research output: Contribution to journalReview article

Spinocerebellar ataxia type 1

Lin, X., Zoghbi, H. Y. & Orr, H. T., Jan 1 2000, In : NeuroScience News. 3, 2-3, p. 81-86 6 p.

Research output: Contribution to journalReview article

Spinocerebellar Ataxias
24 Citations (Scopus)
Spinocerebellar Ataxias
Neurodegenerative Diseases
Transgenic Mice
Purkinje Cells
Mutant Proteins
16 Citations (Scopus)

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

Orr, H. T., Jan 1 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
1999
413 Citations (Scopus)

Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice

Cummings, C. J., Reinstein, E., Yaling, S., Antalffy, B., Jiang, Y. H., Ciechanover, A., Orr, H. T., Beaudet, A. L. & Zoghbi, H. Y., Jan 1 1999, In : Neuron. 24, 4, p. 879-892 14 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Intranuclear Inclusion Bodies
Ligases
Ubiquitin
Pathology
86 Citations (Scopus)

Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7

Kaytor, M. D., Duvick, L. A., Skinner, P. J., Koob, M. D., Ranum, L. P. W. & Orr, H. T., Sep 17 1999, In : Human molecular genetics. 8, 9, p. 1657-1664 8 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Nuclear Matrix
Pyruvate Kinase
Muscle Proteins
COS Cells
7 Citations (Scopus)

Pathogenesis of polyglutamine-induced disease: A model for SCA1

Klement, I. A., Zoghbi, H. Y. & Orr, H. T., Jan 1 1999, In : Molecular Genetics and Metabolism. 66, 3, p. 172-178 7 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Trinucleotide Repeats
Nervous System Diseases
Transgenic Mice
Brain
90 Citations (Scopus)

Polyglutamine diseases: Protein cleavage and aggregation

Zoghbi, H. Y. & Orr, H. T., Oct 1 1999, In : Current Opinion in Neurobiology. 9, 5, p. 566-570 5 p.

Research output: Contribution to journalReview article

Cell Nucleus
Neurodegenerative Diseases
Proteins
polyglutamine
33 Citations (Scopus)

Progress in pathogenesis studies of spinocerebellar ataxia type 1

Cummings, C. J., Orr, H. T. & Zoghbi, H. Y., Jun 29 1999, In : Philosophical Transactions of the Royal Society B: Biological Sciences. 354, 1386, p. 1079-1081 3 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
pathogenesis
mice
mutants
nuclear inclusions
1998
836 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

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

Orr, H., Skiement, I., Skinner, P., Davidson, J., Burright, E., Cumminigs, C., Koshy, B. & Zoghh, H., Dec 1 1998, In : FASEB Journal. 12, 8, p. A1322

Research output: Contribution to journalArticle

Glutamine
glutamine
mice
mutants
Ataxia
716 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
2 Citations (Scopus)

Erratum: The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1 (Nature (1997) 389 (974-978))

Matilla, A., Koshy, B. T., Cummings, C. J., Isobe, T., Orr, H. T. & Zoghbi, H. Y., Feb 19 1998, In : Nature. 391, 6669, 1 p.

Research output: Contribution to journalComment/debate

Erratum: Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures (Nature (1997) 389 (971-974))

Skinner, P. J., Koshy, B. T., Cummings, C. J., Klement, I. A., Helin, K., Servadio, A., Zoghbi, H. Y. & Orr, H. T., Jan 15 1998, In : Nature. 391, 6664, 1 p.

Research output: Contribution to journalComment/debate

153 Citations (Scopus)

Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest

Johnson, E. W., Dubovsky, J., Rich, S. S., O'Donovan, C. A., Orr, H. T., Anderson, V. E., Gil-Nagel, A., Ahmann, P., Dokken, C. G., Schneider, D. T. & Weber, J. L., Jan 1 1998, In : Human molecular genetics. 7, 1, p. 63-67 5 p.

Research output: Contribution to journalArticle

Febrile Seizures
Chromosomes
Genes
Seizures
Lod Score
153 Citations (Scopus)

Mice lacking ataxin-1 display learning deficits and decreased hippocampal paired-pulse facilitation

Matilla, A., Roberson, E. D., Banfi, S., Morales, J., Armstrong, D. L., Burright, E. N., Orr, H. T., Sweatt, J. D., Zoghbi, H. Y. & Matzuk, M. M., Jul 15 1998, In : Journal of Neuroscience. 18, 14, p. 5508-5516 9 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Learning
Ataxia
Exploratory Behavior
Purkinje Cells
42 Citations (Scopus)

Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene

Poorkaj, P., Sharma, V., Anderson, L., Nemens, E., Alonso, M. E., Orr, H., White, J., Heston, L., Bird, T. D. & Schellenberg, G. D., Apr 4 1998, In : Human mutation. 11, 3, p. 216-221 6 p.

Research output: Contribution to journalArticle

Presenilin-1
Chromosomes, Human, Pair 14
Missense Mutation
Alzheimer Disease
Mutation
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., Jan 1 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
1997
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
18 Citations (Scopus)

Cytotoxic T lymphocyte recognition of HLA-G in mice

Schmidt, C. M., Garrett, E. & Orr, H. T., Jul 1 1997, In : Human Immunology. 55, 2, p. 127-139 13 p.

Research output: Contribution to journalArticle

HLA-G Antigens
Cytotoxic T-Lymphocytes
Transgenic Mice
Gastrin-Secreting Cells
Skin
54 Citations (Scopus)

Identification of a self-association region within the SCA1 gene product, ataxin-1

Burright, E. N., Davidson, J. D., Duvick, L. A., Koshy, B., Zognbi, H. Y. & Orr, H. T., Apr 1 1997, In : Human molecular genetics. 6, 4, p. 513-518 6 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Genes
Two-Hybrid System Techniques
Mutant Proteins
Neurodegenerative Diseases
79 Citations (Scopus)

Increased trinucleotide repeat instability with advanced maternal age

Kaytor, M. D., Burright, E. N., Duvick, L. A., Zoghbi, H. Y. & Orr, H. T., Nov 1 1997, In : Human molecular genetics. 6, 12, p. 2135-2139 5 p.

Research output: Contribution to journalArticle

Trinucleotide Repeats
Maternal Age
Transgenic Mice
Oocytes
Nucleotides
21 Citations (Scopus)

Mouse models of human CAG repeat disorders

Burright, E. N., Orr, H. T. & Clark, H. B., Jan 1 1997, In : Brain Pathology. 7, 3, p. 965-977 13 p.

Research output: Contribution to journalArticle

Neurodegenerative Diseases
Machado-Joseph Disease
Trinucleotide Repeat Expansion
Atrophic Muscular Disorders
Spinocerebellar Ataxias
209 Citations (Scopus)

Purkinje cell expression of a mutant allele of SCA1 in transgenic mice leads to disparate effects on motor behaviors, followed by a progressive cerebellar dysfunction and histological alterations

Clark, H. B., Burright, E. N., Yunis, W. S., Larson, S., Wilcox, C., Hartman, B., Matilla, A., Zoghbi, H. Y. & Orr, H. T., Oct 9 1997, In : Journal of Neuroscience. 17, 19, p. 7385-7395 11 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Cerebellar Diseases
Purkinje Cells
Transgenic Mice
Alleles
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 1 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
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

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
1996
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
41 Citations (Scopus)

Familial cerebral cavernous angioma: A gene localized to a 15-cM interval on chromosome 7q

Gil-Nagel, A., Dubovsky, J., Wilcox, K. J., Stewart, J. M., Anderson, V. E., Leppik, I. E., Orr, H. T., Johnson, E. W., Weber, J. L. & Rich, S. S., Jun 1 1996, In : Annals of Neurology. 39, 6, p. 807-810 4 p.

Research output: Contribution to journalArticle

Chromosomes
Genes
Chromosomes, Human, Pair 22
Cavernous Hemangioma
Human Chromosomes
11 Citations (Scopus)

Isolation, characterization and in vivo analysis of the murine calbindin-D28K upstream regulatory region

Pavlou, O., Ehlenfeldt, R., Horn, S. & Orr, H. T., Jan 1 1996, In : Molecular Brain Research. 36, 2, p. 268-279 12 p.

Research output: Contribution to journalArticle

Calbindin 1
Nucleic Acid Regulatory Sequences
Transgenes
Transgenic Mice
Calbindins
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
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
1995
216 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
235 Citations (Scopus)

Expression analysis of the ataxin–1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals

Servadio, A., Koshy, B., Armstrong, D., Antalffy, B., Orr, H. T. & Zoghbi, H. Y., May 1995, In : Nature Genetics. 10, 1, p. 94-98 5 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Proteins
Trinucleotide Repeats
Purkinje Cells
Normal Distribution
150 Citations (Scopus)

Gametic and somatic tissue–specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1

Chong, S. S., McCall, A. E., Cota, J., Subramony, S. H., Orr, H. T., Hughes, M. R. & Zoghbi, H. Y., Jul 1995, In : Nature Genetics. 10, 3, p. 344-350 7 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Alleles
Spermatozoa
Genome
Mosaicism