Consortium on Law and Values in Health, Environment & the Life Sciences

INSTITUTE OF HUMAN GENETICS

Bowman AB, Lam YC, Jafar-Nejad P, Chen HK, Richman R, Samaco RC, Fryer JD, Kahle JJ, Orr HT, Zoghbi HY. Duplication of Atxn1I suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes. Nature Genetics. 2007;39(3):373-379.

Serra HG, Duvick L, Zu T, Carlson K, Stevens S, Jorgensen N, Lysholm A, Burright E, Zoghbi HY, Clark HB, Andresen JM, Orr HT. ROR alpha-mediated Purkinje cell development determines disease severity in adult SCA1 mice. Cell. 2006;127(4):697-708.

He Y, Zu T, Benzow KA, Orr HT, Clark HB, Koob MD. Targeted deletion of a single Sca8 ataxia locus allele in mice causes abnormal gait, progressive loss of motor coordination, and Purkinje cell dendritic deficits. Journal of Neuroscience. 2006;26(39):9975-82.

Clark HB, Serra H, Duvick L, Zu T, Carlson K, Stevens S, Jorgensen N, Zoghbi HY, Orr HT. Depletion of ROR-alpha by mutant ataxin-1 mediates Purkinje cell pathology in SCA1 transgenic mice. Brain Pathology. 2006;16:S164-366 Suppl.

Ellerby LM, Orr HT. Neurodegenerative disease - cut to the chase. Nature. 2006;442(7301):641-642.

Hourez R, Millard I, Servais L, Vig P, Orr HT, Gall D, Pandolfo M, Schiffmann SN. Early electrophysiological anomalies of Purkinje cells in a transgenic mouse model of spinocerebellar ataxia type 1 (SCA1). Neurology. Mar 14 2006;66(5):288-288 Suppl. 2.

Hardy J, Orr H. The genetics of neurodegenerative diseases. Journal of Neurochemistry. 2006;97(6):1690-1699.

Kaytor MD, Byam CE, Tousey SK, Stevens SD, Zoghbi HY, Orr HT. A cell-based screen for modulators of ataxin-1 phosphorylation. Human Molecular Genetics. APR 15 2005;14(8):1095-1105.

Orr HT. Neurodegenerative disease: Neuron protection agency. Nature. Oct 14 2004;431(7010):747-748.

Serra HG, Byam CE, Lande JD, Tousey SK, Zoghbi HY, Orr HT. Gene profiling links SCA1 pathophysiology to glutamate signaling in Purkinje cells of transgenic mice. Human Molecular Genetics. 2004;13(20):2535-2543.

Zu T, Orr HT, Clark HB. Reversibility of Purkinje cell pathology and ataxic behavior in a tetracycline-responsive transgenic model of spinocerebellar ataxia type 1 (SCA1). Journal Of Neuropathology and Experimental Neurology. 2004;63(5):555.

LeRoy BS. Alzheimer's disease and testing. Genetics in Medicine. 2004;6(4):173-174.

Bennett RL, Allain D, Baker D, Callanan N, LeRoy B, Walker AP. Genetic counselor training programs in the United States, capacities and needs: a report of the National Society of Genetic Counselors (NSGC). Genetics in Medicine. 2004;6(4):261.

Orr HT. Neuronal repair in conditional SCA1 mice. Neurobiology of Aging. 2004;5(2):S48.

Orr HT. RNA gains a new function: a mediator of neurodegeneration. Trends in Neuroscience. 2004;27(5):233-234.

Brodie CR, Khaliq M, Yin JCP, Clark HB, Orr HT, Boland LM. Overexpression of CREB reduces CRE-mediated transcription: behavioral and cellular analyses in transgenic mice. Molecular and Cellular Neuroscience. 2004;25(4):602-611.

Opal P, Garcia JJ, McCall AE, Xu BS, Weeber EJ, Sweatt JD, Orr HT, Zoghbi HY. Generation and characterization of LANP/pp32 null mice. Molecular and Cellular Biology.2004 24(8):3140-3149.

Orr HT. Into the depths of ataxia. Journal of Clinical Investigation. 2004;113(4):505-507.

Emamian ES, Kaytor MD, Duvick LA, Zu T, Tousey SK, Zoghbi HY, Clark HB, Orr HT. Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice. Neuron. 2003;38(3):975-87.

Chen H-K, Fernandez-Funez P, Acevedo SF, Lam YC, Kaytor MD, Fernandez MH, Aitken A, Skoulakis EMC, Orr HT, Botas J, Zoghbi HY. Interaction of Akt-Phosphorylated Ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1. Cell. 2003;113(4):457-68.

Yue S, Serra HG, Zoghbi HY, Orr HT. The SCA1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract. Human Molecular Genetics. 10(1);2001:25-30.

Skinner PJ, Vierra-Green CA, Clark HB, Zoghbi HY, Orr HT. Altered Purkinje cell membrane protein trafficking in SCA1 transgenic mice. American Journal of Pathology. 2001;159(3):905-13.

Lin X, Antalffy B, Kang D, Orr HT, Zoghbi HY. Polyglutamine expansion downregulates specific neuronal genes before pathologic changes in SCA1. Nature Neuroscience. 2000;3(2):157-63.

Davidson JD, Riley B, Burright EN, Duvick LA, Zoghbi HY, Orr HT. Identification and characterization of an ataxin-1 interacting protein: A1Up a ubiquitin-like nuclear protein. Human Molecular Genetics. 2000;9(15):2305-12.