1989 …2020

Research output per year

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

Research Output

Filter
Article
2020

Cerebellar contribution to the cognitive alterations in SCA1: Evidence from mouse models

CRC-SCA, Jan 1 2020, In : Human molecular genetics. 29, 1, p. 117-131 15 p.

Research output: Contribution to journalArticle

Open Access
2018

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
8 Scopus citations

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

Open Access
13 Scopus citations

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 2018, In : Neurobiology of Disease. 116, p. 93-105 13 p.

Research output: Contribution to journalArticle

Open Access
4 Scopus citations
2016

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

Open Access
35 Scopus citations
2013

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

29 Scopus citations

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

79 Scopus citations
2011

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

52 Scopus citations

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. A., 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

37 Scopus citations
2010

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

103 Scopus citations
2009

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

34 Scopus citations
2006

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

202 Scopus citations

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

147 Scopus citations
2004

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

198 Scopus citations
2003

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

248 Scopus citations
2000

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

71 Scopus citations
1999

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

87 Scopus citations
1997

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

55 Scopus citations

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

80 Scopus citations
1996

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

45 Scopus citations
1995

SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat

Burright, E. N., Brent Clark, H., Servadio, A., Matilla, T., Feddersen, R. M., Yunis, W. S., Duvick, L. A., Zoghbi, H. Y. & Orr, H. T., Sep 22 1995, In : Cell. 82, 6, p. 937-948 12 p.

Research output: Contribution to journalArticle

474 Scopus citations
1994

Identification and characterization of the gene causing type 1 spinocerebellar ataxia

Banfi, S., Servadio, A., Chung, M. Y., Kwiatkowski, T. J., McCall, A. E., Duvick, L. A., Shen, Y., Roth, E. J., Orr, H. T. & Zoghbi, H. Y., Aug 1994, In : Nature Genetics. 7, 4, p. 513-520 8 p.

Research output: Contribution to journalArticle

281 Scopus citations

Molecular and clinical correlations in spinocerebellar ataxia type I: Evidence for familial effects on the age at onset

Ranum, L. P. W., Chung, M. Y., Banfi, S., Bryer, A., Schut, L. J., Ramesar, R., Duvick, L. A., McCall, A., Subramony, S. H., Goldfarb, L., Gomez, C., Sandkuijl, L. A., Orr, H. T. & Zoghbi, H. Y., Aug 11 1994, In : American Journal of Human Genetics. 55, 2, p. 244-252 9 p.

Research output: Contribution to journalArticle

153 Scopus citations
1993

Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I

Chung, M. Y., Ranum, L. P. W., Duvick, L. A., Servadio, A., Zoghbi, H. Y. & Orr, H. T., Nov 1993, In : Nature Genetics. 5, 3, p. 254-258 5 p.

Research output: Contribution to journalArticle

408 Scopus citations

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1

Orr, H. T., Chung, M. Y., Banfi, S., Kwiatkowski, T. J., Servadio, A., Beaudet, A. L., McCall, A. E., Duvick, L. A., Ranum, L. P. W. & Zoghbi, H. Y., Jul 1993, In : Nature Genetics. 4, 3, p. 221-226 6 p.

Research output: Contribution to journalArticle

1358 Scopus citations

Extraembryonic expression of the human MHC class I gene HLA-G in transgenic mice: Evidence for a positive regulatory region located 1 kilobase 5' to the start site of transcription

Schmidt, C. M., Ehlenfeldt, R. G., Athanasiou, M. C., Duvick, L. A., Heinrichs, H., David, C. S. & Orr, H. T., Jan 1 1993, In : Journal of Immunology. 151, 5, p. 2633-2645 13 p.

Research output: Contribution to journalArticle

63 Scopus citations

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

31 Scopus citations
1992

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., Feb 1992, In : Neurology. 42, 2, p. 344-347 4 p.

Research output: Contribution to journalArticle

16 Scopus citations
1991

Localization of the autosomal dominant HLA-linked spinocerebellar ataxis (SCA1) locus, in two kindreds, within an 8-cM subregion of chromosome 6p

Ranum, L. P. W., Duvick, L. A., Rich, S. S., Schut, L. J., Litt, M. & Orr, H. T., Aug 29 1991, In : American Journal of Human Genetics. 49, 1, p. 31-41 11 p.

Research output: Contribution to journalArticle

84 Scopus citations
1990

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

1 Scopus citations
1989

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

92 Scopus citations