Zoghbi, Huda Y.

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. (2004) · The Journal of Neuroscience

Genetic Neurodegenerative DiseasesAmyotrophic Lateral Sclerosis Research

Cited by 262

Adult Neural Function Requires MeCP2

McGraw, C. M., Samaco, R. C., & Zoghbi, H. Y. (2011) · Science

Genetics and Neurodevelopmental DisordersEpigenetics and DNA Methylation

Cited by 255

Deletion of Mecp2 in Sim1-Expressing Neurons Reveals a Critical Role for MeCP2 in Feeding Behavior, Aggression, and the Response to Stress

Fyffe, S. L., Neul, J. L., Samaco, R. C., Chao, H.-T., Ben-Shachar, S., Moretti, P., McGill, B. E., Goulding, E. H., Sullivan, E., Tecott, L. H., et al. (2008) · Neuron

Genetics and Neurodevelopmental DisordersChild Nutrition and Feeding Issues

Cited by 254

Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus

Ben-Shachar, S., Chahrour, M., Thaller, C., Shaw, C. A., & Zoghbi, H. Y. (2009) · Human Molecular Genetics

Genetics and Neurodevelopmental DisordersEpigenetics and DNA Methylation

Cited by 253

Protein interactome reveals converging molecular pathways among autism disorders

Sakai, Y., Shaw, C. A., Dawson, B. C., Dugas, D. V., Al-Mohtaseb, Z., Hill, D. E., & Zoghbi, H. Y. (2011) · Science Translational Medicine

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 226

An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders

Baker, S. A., Chen, L., Wilkins, A. D., Yu, P., Lichtarge, O., & Zoghbi, H. Y. (2013) · Cell

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 225

MECP2 disorders: from the clinic to mice and back

Lombardi, L. M., Baker, S. A., & Zoghbi, H. Y. (2015) · Journal of Clinical Investigation

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 221

Preclinical research in Rett syndrome: setting the foundation for translational success

Katz, D. M., Berger-Sweeney, J. E., Eubanks, J. H., Justice, M. J., Neul, J. L., Pozzo-Miller, L., Blue, M. E., Christian, D., Crawley, J. N., Giustetto, M., et al. (2012) · Disease Models & Mechanisms

Genetics and Neurodevelopmental DisordersAnimal testing and alternatives

Cited by 206

Neuropathology of Rett syndrome

Jellinger, K., Armstrong, D., Zoghbi, H. Y., & Percy, A. K. (1988) · Acta Neuropathologica

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 204

Gene profiling links SCA1 pathophysiology to glutamate signaling in Purkinje cells of transgenic mice

Serra, H. G., Byam, C. E., Lande, J. D., Tousey, S. K., Zoghbi, H. Y., & Orr, H. T. (2004) · Human Molecular Genetics

Genetic Neurodegenerative DiseasesGenetics and Neurodevelopmental Disorders

Cited by 176

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

Schaaf, C. P., Sabo, A., Sakai, Y., Crosby, J., Muzny, D., Hawes, A., Lewis, L., Akbar, H., Varghese, R., Boerwinkle, E., et al. (2011) · Human Molecular Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 175

Solving the Autism Puzzle a Few Pieces at a Time

Schaaf, C. P., & Zoghbi, H. Y. (2011) · Neuron

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 166

Insufficient Evidence for “Autism-Specific” Genes

Myers, S. M., Challman, T. D., Bernier, R., Bourgeron, T., Chung, W. K., Constantino, J. N., Eichler, E. E., Jacquemont, S., Miller, D. T., Mitchell, K. J., et al. (2020) · The American Journal of Human Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 165

Exercise and Genetic Rescue of SCA1 via the Transcriptional Repressor Capicua

Fryer, J. D., Yu, P., Kang, H., Mandel-Brehm, C., Carter, A. N., Crespo-Barreto, J., Gao, Y., Flora, A., Shaw, C., Orr, H. T., et al. (2011) · Science

Genetic Neurodegenerative DiseasesAmyotrophic Lateral Sclerosis Research

Cited by 162

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. (2010) · Neuron

Genetic Neurodegenerative DiseasesGenetics and Neurodevelopmental Disorders

Cited by 145

Partial Loss of Ataxin-1 Function Contributes to Transcriptional Dysregulation in Spinocerebellar Ataxia Type 1 Pathogenesis

Crespo-Barreto, J., Fryer, J. D., Shaw, C. A., Orr, H. T., & Zoghbi, H. Y. (2010) · PLoS Genetics

Genetic Neurodegenerative DiseasesGenetics and Neurodevelopmental Disorders

Cited by 136

Dendritic Arborization and Spine Dynamics Are Abnormal in the Mouse Model of MECP2 Duplication Syndrome

Jiang, M., Ash, R. T., Baker, S. A., Suter, B., Ferguson, A., Park, J., Rudy, J., Torsky, S. P., Chao, H.-T., Zoghbi, H. Y., et al. (2013) · The Journal of Neuroscience

Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology Research

Cited by 129

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., et al. (2018) · JCI Insight

Genetic Neurodegenerative DiseasesAmyotrophic Lateral Sclerosis Research

Cited by 121

Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes

Bowman, A. B., Lam, Y. C., Jafar-Nejad, P., Chen, H.-K., Richman, R., Samaco, R. C., Fryer, J. D., Kahle, J. J., Orr, H. T., & Zoghbi, H. Y. (2007) · Nature Genetics

Genetic Neurodegenerative DiseasesGenetics and Neurodevelopmental Disorders

Cited by 86

Genetic modifiers of MeCP2 function in Drosophila

Cukier, H. N., Perez, A. M., Collins, A. L., Zhou, Z., Zoghbi, H. Y., & Botas, J. (2008) · PLoS Genetics

Genetics and Neurodevelopmental DisordersEpigenetics and DNA Methylation

Cited by 73

Fragile X-like behaviors and abnormal cortical dendritic spines in cytoplasmic FMR1-interacting protein 2-mutant mice

Han, K., Chen, H., Gennarino, V. A., Richman, R., Lu, H.-C., & Zoghbi, H. Y. (2015) · Human Molecular Genetics

Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology Research

Cited by 72

A Druggable Genome Screen Identifies Modifiers of α-Synuclein Levels via a Tiered Cross-Species Validation Approach

Rousseaux, M. W. C., Vázquez-Vélez, G. E., Al-Ramahi, I., Jeong, H.-H., Bajić, A., Revelli, J.-P., Ye, H., Phan, E. T., Deger, J. M., Perez, A. M., et al. (2018) · The Journal of Neuroscience

Parkinson's Disease Mechanisms and TreatmentsNuclear Receptors and Signaling

Cited by 61

The role of LANP and ataxin 1 in E4F‐mediated transcriptional repression

Cvetanovic, M., Rooney, R. J., Garcia, J. J., Toporovskaya, N., Zoghbi, H. Y., & Opal, P. (2007) · The EMBO Reports

Genetic Neurodegenerative DiseasesGenomics and Chromatin Dynamics

Cited by 52

Evolutionarily conserved regulators of tau identify targets for new therapies

Kim, J., de Haro, M., Al-Ramahi, I., Garaicoechea, L. L., Jeong, H.-H., Sonn, J. Y., Tadros, B., Liu, Z., Botas, J., & Zoghbi, H. Y. (2023) · Neuron

Alzheimer's disease research and treatmentsNeuroinflammation and Neurodegeneration Mechanisms

Cited by 50