Huda Zoghbi
Huda Zoghbi
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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
RE Amir, IB Van den Veyver, M Wan, CQ Tran, U Francke, HY Zoghbi
Nature genetics 23 (2), 185-188, 1999
Towards a proteome-scale map of the human protein–protein interaction network
JF Rual, K Venkatesan, T Hao, T Hirozane-Kishikawa, A Dricot, N Li, ...
Nature 437 (7062), 1173-1178, 2005
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
HT Orr, M Chung, S Banfi, TJ Kwiatkowski, A Servadio, AL Beaudet, ...
Nature genetics 4 (3), 221-226, 1993
Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.
RC Allen, HY Zoghbi, AB Moseley, HM Rosenblatt, JW Belmont
American journal of human genetics 51 (6), 1229, 1992
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel
O Zhuchenko, J Bailey, P Bonnen, T Ashizawa, DW Stockton, C Amos, ...
Nature genetics 15 (1), 62-69, 1997
MeCP2, a key contributor to neurological disease, activates and represses transcription
M Chahrour, SY Jung, C Shaw, X Zhou, STC Wong, J Qin, HY Zoghbi
Science 320 (5880), 1224-1229, 2008
Glutamine repeats and neurodegeneration
HY Zoghbi, HT Orr
Annual review of neuroscience 23, 217, 2000
Trinucleotide repeat disorders
HT Orr, HY Zoghbi
Annu. Rev. Neurosci. 30, 575-621, 2007
The story of Rett syndrome: from clinic to neurobiology
M Chahrour, HY Zoghbi
Neuron 56 (3), 422-437, 2007
The DNA sequence of the human X chromosome
MT Ross, DV Grafham, AJ Coffey, S Scherer, K McLay, D Muzny, ...
Nature 434 (7031), 325-337, 2005
Math1: an essential gene for the generation of inner ear hair cells
NA Bermingham, BA Hassan, SD Price, MA Vollrath, N Ben-Arie, ...
Science 284 (5421), 1837-1841, 1999
Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice
IA Klement, PJ Skinner, MD Kaytor, H Yi, SM Hersch, HB Clark, ...
Cell 95 (1), 41-53, 1998
Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes
HT Chao, H Chen, RC Samaco, M Xue, M Chahrour, J Yoo, JL Neul, ...
Nature 468 (7321), 263-269, 2010
Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1
CJ Cummings, MA Mancini, B Antalffy, DB DeFranco, HT Orr, HY Zoghbi
Nature genetics 19 (2), 148-154, 1998
Requirement of Math1 for secretory cell lineage commitment in the mouse intestine
Q Yang, NA Bermingham, MJ Finegold, HY Zoghbi
Science 294 (5549), 2155-2158, 2001
A protein–protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration
J Lim, T Hao, C Shaw, AJ Patel, G Szabó, JF Rual, CJ Fisk, N Li, ...
Cell 125 (4), 801-814, 2006
Diseases of unstable repeat expansion: mechanisms and common principles
JR Gatchel, HY Zoghbi
Nature Reviews Genetics 6 (10), 743-755, 2005
Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3
MD Shahbazian, JI Young, LA Yuva-Paylor, CM Spencer, BA Antalffy, ...
Neuron 35 (2), 243-254, 2002
Postnatal neurodevelopmental disorders: meeting at the synapse?
HY Zoghbi
Science 302 (5646), 826-830, 2003
Identification of genes that modify ataxin-1-induced neurodegeneration
P Fernandez-Funez, ML Nino-Rosales, B De Gouyon, WC She, ...
Nature 408 (6808), 101-106, 2000
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