L. Duvick

发表

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

H. Zoghbi, H. Orr, J. Davidson, 2000, Human molecular genetics.

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

Huda Y. Zoghbi, Arthur L. Beaudet, Harry T. Orr, 1993, Nature Genetics.

Targeting inhibitory cerebellar circuitry to alleviate behavioral deficits in a mouse model for studying idiopathic autism

H. Zhang, H. Orr, H. Hirai, 2020, Neuropsychopharmacology.

Phosphorylation of ATXN1 at Ser776 in the cerebellum

H. Zoghbi, H. Orr, P. Jafar-Nejad, 2009, Journal of neurochemistry.

Partial loss of Tip60 slows mid-stage neurodegeneration in a spinocerebellar ataxia type 1 (SCA1) mouse model

H. Zoghbi, H. Orr, L. Duvick, 2011, Human molecular genetics.

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

H. Orr, S. Rich, L. Schut, 1991, American journal of human genetics.

Chromosomal organization of the human major histocompatibility complex class I gene family [published erratum appears in J Exp Med 1989 Apr 1;169(4):1517]

H. Orr, S. Rich, B. Koller, 1989, The Journal of experimental medicine.

Chromosomal organization of the human major histocompatibility complex class I gene family [published erratum appears in J Exp Med 1989 Apr 1;169(4):1517]

H. Orr, S. Rich, B. Koller, 1989, The Journal of experimental medicine.

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.

A. Beaudet, H. Zoghbi, H. Orr, 1993, American journal of human genetics.

Decreasing mutant ATXN1 nuclear localization improves a spectrum of SCA1-like phenotypes and brain region transcriptomic profiles

Jason S. Mitchell, H. Zoghbi, H. Orr, 2022, Neuron.

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

H. Zoghbi, H. Orr, L. Ranum, 1993, Nature Genetics.

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

H. Zoghbi, H. Orr, J. Davidson, 1997, Human molecular genetics.

Serine 776 of Ataxin-1 Is Critical for Polyglutamine-Induced Disease in SCA1 Transgenic Mice

Effat S. Emamian, Huda Y. Zoghbi, Harry T. Orr, 2003, Neuron.

ATAXIN-1 Interacts with the Repressor Capicua in Its Native Complex to Cause SCA1 Neuropathology

Janghoo Lim, H. Zoghbi, J. Botas, 2006, Cell.

ATXN1-CIC Complex Is the Primary Driver of Cerebellar Pathology in Spinocerebellar Ataxia Type 1 through a Gain-of-Function Mechanism

Maxime W. C. Rousseaux, Elizabeth P. Lackey, H. Zoghbi, 2018, Neuron.

RAS–MAPK–MSK1 pathway modulates ataxin 1 protein levels and toxicity in SCA1

Hyojin Kang, Ismael Al-Ramahi, Juan Botas, 2013, Nature.

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

Harry T Orr, H. Zoghbi, H. Orr, 1995, Cell.

Identification and characterization of the gene causing type 1 spinocerebellar ataxia

Harry T. Orr, Sandro Banfi, H. Zoghbi, 1994, Nature Genetics.

SCA1-like Disease in Mice Expressing Wild-Type Ataxin-1 with a Serine to Aspartic Acid Replacement at Residue 776

Huda Y. Zoghbi, Harry T. Orr, Janghoo Lim, 2010, Neuron.

Cerebellar Transcriptome Profiles of ATXN1 Transgenic Mice Reveal SCA1 Disease Progression and Protection Pathways

H. Zoghbi, H. Orr, Rendong Yang, 2016, Neuron.

Purkinje Cell Ataxin-1 Modulates Climbing Fiber Synaptic Input in Developing and Adult Mouse Cerebellum

T. Ebner, H. Zoghbi, H. Orr, 2013, The Journal of Neuroscience.

RORα-Mediated Purkinje Cell Development Determines Disease Severity in Adult SCA1 Mice

H. Zoghbi, H. Orr, H. G. Serra, 2006, Cell.

Reduction of protein kinase A-mediated phosphorylation of ATXN1-S776 in Purkinje cells delays onset of Ataxia in a SCA1 mouse model

H. Zoghbi, H. Orr, M. Walters, 2018, Neurobiology of Disease.

Regional vulnerability in a neurodegenerative disease: Delineating SCA1 CNS and muscle therapeutic targets using a conditional mutant ATXN1 mouse.

Jason S. Mitchell, H. Zoghbi, J. Ervasti, 2023, bioRxiv : the preprint server for biology.

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

H. Orr, L. Ranum, L. Duvick, 1999, Human molecular genetics.

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.

M. Athanasiou, H. Orr, L. Duvick, 1993, Journal of immunology.

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

H. Zoghbi, H. Orr, S. Banfi, 1996, Human molecular genetics.

Decreasing mutant ATXN1 nuclear localization improves a spectrum of SCA1-like phenotypes and brain region transcriptomic profiles

Jason S. Mitchell, H. Zoghbi, H. Orr, 2022, Neuron.

Antisense Oligonucleotide Therapeutic Approach for Suppression of Ataxin-1 Expression: A Safety Assessment

H. Orr, C. Henzler, Tracy A. Cole, 2020, Molecular therapy. Nucleic acids.

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

S. Kuo, Ruo-Yah Lai, L. Duvick, 2019, Human molecular genetics.

Abnormalities in the Climbing Fiber-Purkinje Cell Circuitry Contribute to Neuronal Dysfunction in ATXN1[82Q] Mice

Timothy J. Ebner, Gang Chen, Wangcai Gao, 2011, The Journal of Neuroscience.

Spinocerebellar ataxia type 1 (SCA1) is caused by the expansion of a cytosine-adenosine-guanosine trinucleotide repeat that encodes a polyglutamine tract in the ataxin-1

H. Zoghbi, H. Orr, P. Jafar-Nejad, 2009 .

Recovery from Polyglutamine-Induced Neurodegeneration in Conditional SCA1 Transgenic Mice

Harry T Orr, Tao Zu, H. Zoghbi, 2004, The Journal of Neuroscience.

Increased trinucleotide repeat instability with advanced maternal age.

H. Zoghbi, H. Orr, E. Burright, 1997, Human molecular genetics.

Purkinje-Enriched snRNA-seq in SCA7 Cerebellum Reveals Zebrin Identity Loss as a Central Feature of Polyglutamine Ataxias

Pawel M. Switonski, S. Pulst, H. Orr, 2023, bioRxiv.

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

H. Zoghbi, H. Orr, S. Subramony, 1994, American journal of human genetics.

Dinucleotide repeat polymorphism at the D6S109 locus.

H. Zoghbi, H. Orr, L. Ranum, 1991, Nucleic acids research.

Antisense oligonucleotide-mediated ataxin-1 reduction prolongs survival in SCA1 mice and reveals disease-associated transcriptome profiles.

H. Zoghbi, H. Orr, G. Öz, 2018, JCI insight.

Purkinje-Enriched snRNA-seq in SCA7 Cerebellum Reveals Zebrin Identity Loss as a Central Feature of Polyglutamine Ataxias

Pawel M. Switonski, S. Pulst, H. Orr, 2023, bioRxiv.

Modulation of mouse skin tumor promotion by dietary 13-cis-retinoic acid and alpha-difluoromethylornithine.

A. Verma, L. Duvick, M. Ali, 1986, Carcinogenesis.

Delineating regional vulnerability in the neurodegenerative disease SCA1 using a conditional mutant ATXN1 mouse

Jason S. Mitchell, H. Zoghbi, J. Ervasti, 2023, bioRxiv.

Disrupting ATXN1 Nuclear Localization in a Knock-in SCA1 Mouse Model Improves a Spectrum of SCA1-Like Phenotypes and their Brain Region Associated Transcriptomic Profiles

H. Zoghbi, H. Orr, C. Henzler, 2021, bioRxiv.

Autosomal dominant spinocerebellar ataxia

H. Orr, L. Schut, M. Nance, 1992, Neurology.

Reduction of protein kinase A-mediated phosphorylation of ATXN1-S776 in Purkinje cells delays onset of Ataxia in a SCA1 mouse model

H. Zoghbi, H. Orr, M. Walters, 2018, Neurobiology of Disease.

CHROMOSOMAL ORGANIZATION OF THE HUMAN MAJOR HISTOCOMPATIBILITY COMPLEX CLASS I GENE FAMILY By BEVERLY H . KOLLER, DANIEL E . GERAGHTY, ROBERT DEMARS,*

H. Orr, S. Rich, B. Koller, 2003 .

Antisense oligonucleotide-mediated ataxin-1 reduction prolongs survival in SCA1 mice and reveals disease-associated transcriptome profiles.

H. Zoghbi, H. Orr, G. Öz, 2018, JCI insight.