Rose MF, Ahmad KA, Thaller C, Zoghbi HY. Excitatory neurons of the proprioceptive, interoceptive, and arousal hindbrain networks share a developmental requirement for Math1Proc Natl Acad Sci U S A. 2009 Dec29;106(52):22462-7. Epub 2009 Dec 18. PubMed PMID: 20080794; PubMed Central PMCID: PMC2799716.

Samaco RC, Mandel-Brehm C, Chao HT, Ward CS, Fyffe-Maricich SL, Ren J, Hyland K, Thaller C, Maricich SM, Humphreys P, Greer JJ, Percy A, Glaze DG, Zoghbi HY, Neul JL. Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities. Proc Natl Acad Sci U S A. 2009 Dec 22;106(51):21966-71. Epub 2009 Dec 9. PubMed PMID: 20007372; PubMed Central PMCID: PMC2799790.

Flora A, Klisch TJ, Schuster G, Zoghbi HY. Deletion of Atoh1 disrupts Sonic Hedgehog signaling in the developing cerebellum and prevents medulloblastoma. Science. 2009 Dec 4;326(5958):1424-7. Erratum in: Science. 2010 Mar19;327(5972):1454. PubMed PMID: 19965762.

Ramocki MB, Peters SU, Tavyev YJ, Zhang F, Carvalho CM, Schaaf CP, Richman R, Fang P, Glaze DG, Lupski JR, Zoghbi HY. Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. Ann Neurol. 2009 Dec;66(6):771-82. PubMed PMID: 20035514; PubMed Central PMCID: PMC2801873.

Rose MF, Ren J, Ahmad KA, Chao HT, Klisch TJ, Flora A, Greer JJ, Zoghbi HY. Math1 is essential for the development of hindbrain neurons critical for perinatal breathing. Neuron. 2009 Nov 12;64(3):341-54. PubMed PMID: 19914183; PubMed Central PMCID: PMC2818435.

Maricich SM, Xia A, Mathes EL, Wang VY, Oghalai JS, Fritzsch B, Zoghbi HY. Atoh1-lineal neurons are required for hearing and for the survival of neurons in the spiral ganglion and brainstem accessory auditory nuclei.J Neurosci. 2009 Sep 9;29(36):11123-33. PubMed PMID: 19741118; PubMed Central PMCID: PMC2743121.

Ben-Shachar S, Chahrour M, Thaller C, Shaw CA, Zoghbi HY. Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus. Hum Mol Genet. 2009 Jul 1;18(13):2431-42. Epub 2009 Apr 15. PubMed PMID:19369296; PubMed Central PMCID: PMC2694691.

Jorgensen ND, Andresen JM, Lagalwar S, Armstrong B, Stevens S, Byam CE, Duvick LA, Lai S, Jafar-Nejad P, Zoghbi HY, Clark HB, Orr HT. Phosphorylation of ATXN1 at Ser776 in the cerebellum. J Neurochem. 2009 Jul;110(2):675-86. Epub 2009 May 15. PubMed PMID: 19500214; PubMed Central PMCID: PMC2754139.

Maricich SM, Wellnitz SA, Nelson AM, Lesniak DR, Gerling GJ, Lumpkin EA, Zoghbi HY. Merkel cells are essential for light-touch responses. Science. 2009 Jun 19;324(5934):1580-2. PubMed PMID: 19541997; PubMed Central PMCID: PMC2743005.

Carvalho CM, Zhang F, Liu P, Patel A, Sahoo T, Bacino CA, Shaw C, Peacock S, Pursley A, Tavyev YJ, Ramocki MB, Nawara M, Obersztyn E, Vianna-Morgante AM, Stankiewicz P, Zoghbi HY, Cheung SW, Lupski JR. Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet. 2009 Jun 15;18(12):2188-203. Epub 2009 Mar 26. PubMed PMID: 19324899; PubMed Central PMCID: PMC2685756.

Chao HT, Zoghbi HY. The yin and yang of MeCP2 phosphorylation. Proc Natl Acad Sci U S A. 2009 Mar 24;106(12):4577-8. Epub 2009 Mar 17. PubMed PMID: 19293386; PubMed Central PMCID: PMC2660756.

Zoghbi HY, Orr HT. Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, spinocerebellar ataxia type 1. J Biol Chem. 2009 Mar 20;284(12):7425-9. Epub 2008 Oct 28. Review. PubMed PMID: 18957430; PubMed Central PMCID: PMC2658037.

Miesegaes GR, Klisch TJ, Thaller C, Ahmad KA, Atkinson RC, Zoghbi HY.
Identification and subclassification of new Atoh1 derived cell populations during mouse spinal cord development. Dev Biol. 2009 Mar 15;327(2):339-51. Epub 2008 Dec
25. PubMed PMID: 19135992; PubMed Central PMCID: PMC2729134.

Zoghbi HY. Rett syndrome: what do we know for sure? Nat Neurosci. 2009 Mar;12(3):239-40. PubMed PMID: 19238181.

Carlson KM, Melcher L, Lai S, Zoghbi HY, Clark HB, Orr HT. Characterization of the zebrafish atxn1/axh gene family. J Neurogenet. 2009;23(3):313-23. Epub 2008 Dec 10. PubMed PMID: 19085187; PubMed Central PMCID: PMC2722686.


Ramocki MB, Zoghbi HY. Failure of neuronal homeostasis results in common neuropsychiatric phenotypes.Nature. 2008 Oct 16;455(7215):912-8. Review. PMID: 18923513

Fyffe SL, Neul JL, Samaco RC, Chao HT, Ben-Shachar S, Moretti P, McGill BE, Goulding EH, Sullivan E, Tecott LH, Zoghbi HY. Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress. Neuron. 2008 Sep 25;59(6):947-58. PMID: 18817733

Cukier HN, Perez AM, Collins AL, Zhou Z, Zoghbi HY, Botas J. Genetic modifiers of MeCP2 function in Drosophila. PLoS Genet. 2008 Sep 5;4(9):e1000179. PMID: 18773074

Lee Y, Samaco RC, Gatchel JR, Thaller C, Orr HT, Zoghbi HY. miR-19, miR-101 and miR-130 co-regulate ATXN1 levels to potentially modulate SCA1 pathogenesis. Nat Neurosci. 2008 Oct;11(10):1137-9. Epub 2008 Aug 31. PMID: 18758459; PubMed Central PMCID: PMC2574629.

Watase K, Barrett CF, Miyazaki T, Ishiguro T, Ishikawa K, Hu Y, Unno T, Sun Y, Kasai S, Watanabe M, Gomez CM, Mizusawa H, Tsien RW, Zoghbi HY. Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels. Proc Natl Acad Sci U S A. 2008 Aug 19; 105(33):11987-92. Epub 2008 Aug 7. PMID: 18687887

Chahrour M, Jung SY, Shaw C, Zhou X, Wong ST, Qin J, Zoghbi HY. MeCP2, a key contributor to neurological disease, activates and represses transcription. Science. 2008 May 30;320(5880):1224-9. PMID: 18511691; PubMed Central PMCID: PMC2443785

Lim J, Crespo-Barreto J, Jafar-Nejad P, Bowman AB, Richman R, Hill DE, Orr HT, Zoghbi HY. Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1. Nature. 2008 Apr 10; 452(7188):713-8. Epub 2008 Mar 12. PMID: 18337722; PMCID: PMC2377396

Samaco RC, Fryer JD, Ren J, Fyffe S, Chao HT, Sun Y, Greer JJ, Zoghbi HY, Neul JL. A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome. Hum Mol Genet. 2008 Jun 15;17(12):1718-27. Epub 2008 Mar 4. PMID: 18321864

Gatchel JR, Watase K, Thaller C, Carson JP, Jafar-Nejad P, Shaw C, Zu T, Orr HT, Zoghbi HY. The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7. Proc Natl Acad Sci U S A. 2008 Jan 29;105(4):1291-6. Epub 2008 Jan 23. PMID: 18216249


Al-Ramahi I, Pérez AM, Lim J, Zhang M, Sorensen R, de Haro M, Branco J, Pulst SM, Zoghbi HY, Botas J.dAtaxin-2 mediates expanded Ataxin-1-induced neurodegeneration in a Drosophila model of SCA1. PLoS Genet. 2007 Dec 28;3(12):e234. Epub 2007 Nov 16. PMID: 18166084

Chahrour M, Zoghbi HY.The story of Rett syndrome: from clinic to neurobiology. Neuron. 2007 Nov 8;56(3):422-37. Review. PMID: 17988628

Chao HT, Zoghbi HY, Rosenmund C. MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number. Neuron. 2007 Oct 4;56(1):58-65. PMID: 17920015

Flora A, Garcia JJ, Thaller C, Zoghbi HY. The E-protein Tcf4 interacts with Math1 to regulate differentiation of a specific subset of neuronal progenitors. Proc Natl Acad Sci U S A. 2007 Sep 25;104(39):15382-7. Epub 2007 Sep 18. PMID: 17878293

Alvarez-Saavedra M, Sáez MA, Kang D, Zoghbi HY, Young JI. Cell-specific expression of wild-type MeCP2 in mouse models of Rett syndrome yields insight about pathogenesis. Hum Mol Genet. 2007 Oct 1;16(19):2315-25. Epub 2007 Jul 17. PMID: 17635839

Shroyer NF, Helmrath MA, Wang VY, Antalffy B, Henning SJ, Zoghbi HY. Intestine-specific ablation of mouse atonal homolog 1 (Math1) reveals a role in cellular homeostasis. Gastroenterology. 2007 Jun;132(7):2478-88. Epub 2007 Mar 24. PMID: 17570220

Cvetanovic M, Rooney RJ, Garcia JJ, Toporovskaya N, Zoghbi HY, Opal P. The role of LANP and ataxin 1 in E4F-mediated transcriptional repression. EMBO Rep. 2007 Jul;8(7):671-7. Epub 2007 Jun 8. PMID: 17557114

Jorgensen ND, Andresen JM, Pitt JE, Swenson MA, Zoghbi HY, Orr HT. Hsp70/Hsc70 regulates the effect phosphorylation has on stabilizing ataxin-1. J Neurochem. 2007 Sep;102(6):2040-8. Epub 2007 Jun 1. PMID: 17540008

Watase K, Gatchel JR, Sun Y, Emamian E, Atkinson R, Richman R, Mizusawa H, Orr HT, Shaw C, Zoghbi HY. Lithium therapy improves neurological function and hippocampal dendritic arborization in a spinocerebellar ataxia type 1 mouse model. PLoS Med. 2007 May;4(5):e182. PMID: 17535104

Orr, H.T. and Zoghbi, H.Y. Trinucleotide repeat disorders. Annu. Rev. Neurosci, 2007. 30: p. 575-621.

Bowman AB, Lam YC, Jafar-Nejad P, Chen HK, Richman R, Samaco RC, Fryer JD, Kahle JJ, Orr HT, Zoghbi HY. Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes. Nat Genet. 2007 Mar;39(3):373-9. Epub 2007 Feb 18. PMID: 17322884


Lam YC, Bowman AB, Jafar-Nejad P, Lim J, Richman R, Fryer JD, Hyun ED, Duvick LA, Orr HT, Botas J, Zoghbi HY. ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology. Cell. 2006 Dec 29;127(7):1335-47.

del Gaudio D, Fang P, Scaglia F, Ward PA, Craigen WJ, Glaze DG, Neul JL, Patel A, Lee JA, Irons M, Berry SA, Pursley AA, Grebe TA, Freedenberg D, Martin RA, Hsich GE, Khera JR, Friedman NR, Zoghbi HY, Eng CM, Lupski JR, Beaudet AL, Cheung SW, Roa BB. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med. 2006 Dec;8(12):784-92.

Serra HG, Duvick L, Zu T, Carlson K, Stevens S, Jorgensen N, Lysholm A, Burright E, Zoghbi HY, Clark HB, Andresen JM, Orr HT. RORalpha-mediated Purkinje cell development determines disease severity in adult SCA1 mice. Cell. 2006 Nov 17;127(4):697-708.

McGill BE, Bundle SF, Yaylaoglu MB, Carson JP, Thaller C, Zoghbi HY. Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndrome. Proc Natl Acad Sci U S A. 2006 Nov 28;103(48):18267-72.

Fryer JD, Zoghbi HY. Huntington's critical cleavage. Nat Neurosci. 2006 Sep;9(9):1088-9.

Maricich SM, Zoghbi HY. Getting back to basics. Cell. 2006 Jul 14;126(1):11-5.

Al-Ramahi I, Lam YC, Chen HK, de Gouyon B, Zhang M, Perez AM, Branco J, de Haro M, Patterson C, Zoghbi HY, Botas J. CHIP protects from the neurotoxicity of expanded and wild-type ataxin-1 and promotes their ubiquitination and degradation. J Biol Chem. 2006 Sep 8;281(36):26714-24.

Lim J, Hao T, Shaw C, Patel AJ, Szabo G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabasi AL, Vidal M, Zoghbi HY. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. Cell. 2006 May 19;125(4):801-14.

Zoghbi HY and Beaudet AL. 2006. Epigenetics and Human Disease. Reinberg D, Allis CD, Jenuwein T, eds. (New York: CSH Press).

Beaudet AL and Zoghbi HY. 2006. A Mixed Epigenetic and Genetic and Mixed De Novo and Inherited Model for Autism. In Understanding Autism: From Basic Neuroscience to Treatment. Mouldin SO and Rubenstein JLR, eds. (CRC Press: Boca Raton, FL).

Zoghbi, HY. 2006. Genetic Mechanisms in Degenerative Diseases of the Nervous System. In: Principles of Neural Science, 5th edition.  Kandel ER, Schwartz JH, Jessell TM, Siegelbaum S, and Hudspeth J, eds. (New York: McGraw-Hill).

Moretti P, Zoghbi HY. MeCP2 dysfunction in Rett syndrome and related disorders. Curr Opin Genet Dev. 2006 Jun;16(3):276-81.

Helmlinger D, Hardy S, Abou-Sleymane G, Eberlin A, Bowman AB, Gansmuller A, Picaud S, Zoghbi HY, Trottier Y, Tora L, Devys D. Glutamine-expanded ataxin-7 alters TFTC/STAGA recruitment and chromatin structure leading to photoreceptor dysfunction. PLoS Biol. 2006 Mar;4(3):e67.

Moretti P, Levenson JM, Battaglia F, Atkinson R, Teague R, Antalffy B, Armstrong D, Arancio O, Sweatt JD, Zoghbi HY. Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome.J Neurosci. 2006 Jan 4;26(1):319-27.


Zoghbi HY. SILencing misbehaving proteins. Nat Genet. 2005 Dec;37(12):1302-3.

Young JI, Hong EP, Castle J, Crespo-Barreto J, Bowman AB, Rose MF, Kang D, Richman R, Johnson J, Berget S, Zoghbi H. Regulation of RNA splicing by the methylation-dependent transcriptional repressor MeCP2. Proc Natl Acad Sci U S A. 2005 Dec 6;102(49):17551-8.

Shroyer NF, Schultz DW, Venken KJT, Bellen HJ, Zoghbi HY. Gfi1 functions downstream of Math1 to control intestinal secretory cell subtype allocation and differentiation. Genes Dev. 2005 Oct 15;19(20):2412-7.

Zoghbi HY. MeCP2 dysfunction in humans and mice. J Child Neurol. 2005 Sep;20(9):736-40.

Gatchel JR, Zoghbi HY. Diseases of unstable repeat expansion: mechanisms and common principles. Nat Rev Genet. 2005 Oct;6(10):743-55.

Wang VY, Rose MF, Zoghbi HY. Math1 expression redefines the rhombic lip derivatives and reveals novel lineages within the brainstem and cerebellum. Neuron. 2005 Oct 6;48(1):31-43.

Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M. Towards a proteome-scale map of the human protein-protein interaction network. Nature. 2005 Oct 20;437(7062):1173-8.

Tsuda H, Jafar-Nejad H, Patel AJ, Sun Y, Chen HK, Rose MF, Venken KJ, Botas J, Orr HT, Bellen HJ, Zoghbi HY. The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins. Cell. 2005 Aug 26;122(4):633-44.

Vierra-Green CA, Orr HT, Zoghbi HY, Ferrington DA. Identification of a novel phosphorylation site in ataxin-1.Biochim Biophys Acta. 2005 May 15;1744(1):11-8.

Chen DH, Cimino PJ, Ranum LP, Zoghbi HY, Yabe I, Schut L, Margolis RL, Lipe HP, Feleke A, Matsushita M, Wolff J, Morgan C, Lau D, Fernandez M, Sasaki H, Raskind WH, Bird TD. The clinical and genetic spectrum of spinocerebellar ataxia 14. Neurology. 2005 Apr 12;64(7):1258-60.

Riley BE, Zoghbi HY, Orr HT. SUMOylation of the polyglutamine repeat protein, ataxin-1, is dependent on a functional nuclear localization signal. J Biol Chem. 2005 Jun 10;280(23):21942-8.

Ross MT et al. The DNA sequence of the human X chromosome. Nature. 2005 Mar 17;434(7031):325-37.

Kaytor MD, Byam CE, Tousey SK, Stevens SD, Zoghbi HY, Orr HT. A cell-based screen for modulators of ataxin-1 phosphorylation. Hum Mol Genet. 2005 Apr 15;14(8):1095-105.

Amir RE, Fang P, Yu Z, Glaze DG, Percy AK, Zoghbi HY, Roa BB, Van den Veyver IB. Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome. J Med Genet. 2005 Feb;42(2):e15.

Bowman AB, Yoo SY, Dantuma NP, Zoghbi HY. Neuronal dysfunction in a polyglutamine disease model occurs in the absence of ubiquitin-proteasome system impairment and inversely correlates with the degree of nuclear inclusion formation. Hum Mol Genet. 2005 Mar 1;14(5):679-91.

Moretti P, Bouwknecht JA, Teague R, Paylor R, Zoghbi HY. Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome. Hum Mol Genet. 2005 Jan 15;14(2):205-20.


Zu T, Duvick LA, Kaytor MD, Berlinger MS, Zoghbi HY, Clark HB, Orr HT. Recovery from polyglutamine-induced neurodegeneration in conditional SCA1 transgenic mice. J Neurosci. 2004 Oct 6;24(40):8853-61.

Collins AL, Levenson JM, Vilaythong AP, Richman R, Armstrong DL, Noebels JL, Sweatt JD, Zoghbi HY. Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum Mol Genet. 2004 Nov 1;13(21):2679-89.

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. Hum Mol Genet. 2004 Oct 15;13(20):2535-43.

Riley BE, Xu Y, Zoghbi HY, Orr HT. The Effects of the Polyglutamine Repeat Protein Ataxin-1 on the UbL-UBA Protein A1Up. J Biol Chem. 2004 Oct 1;279(40):42290-301.

Matsuura T, Fang P, Lin X, Khajavi M, Tsuji K, Rasmussen A, Grewal RP, Achari M, Alonso ME, Pulst SM, Zoghbi HY, Nelson DL, Roa BB, Ashizawa T. Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. Am J Hum Genet. 2004 Jun;74(6):1216-24.

Neul JL, Zoghbi HY. Rett syndrome: a prototypical neurodevelopmental disorder. Neuroscientist. 2004 Apr;10(2):118-28.

Opal P, Garcia JJ, McCall E, Xu B, Weeber EJ, Sweatt JD, Orr HT, Zoghbi HY. Generation and characterization of LANP/pp32 null mice.  Mol Cell Biol. 2004 Apr;24(8):3140-9.

Young J, Zoghbi HY. X-Chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of Rett syndrome.  Am J Hum Genet. 2004 Mar;74(3):511-20.


Fritz-Six KL, Cox PR, Fischer RS, Xu B, Gregorio CC, Zoghbi HY, Fowler VM. Aberrant myofibril assembly in tropomodulin 1 null mice leads to aborted heart development and embryonic lethality. J Cell Biol. 2003 Dec 8;163(5):1033-44.

Zoghbi HY. Postnatal neurodevelopmental disorders: meeting at the synapse? Science. 2003 Oct 31;302(5646):826-30.

Zoghbi HY. Molecular neuroscience: BAC-to-BAC images of the brain. Nature. 2003 Oct 30;425(6961):907-8.

Stancheva I, Collins AL, Van den Veyver IB, Zoghbi H, Meehan RR. A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by Notch in Xenopus embryos. Mol Cell. 2003 Aug;12(2):425-35.

Watase K, Venken KJT, Sun Y, Orr HT, Zoghbi HY. Regional differences of somatic CAG repeat instability do not account for selective neuronal vulnerability in a knock-in mouse model of SCA1. Hum Mol Genet. 2003 Nov 1;12(21):2789-95.

Patterson MC, Zoghbi HY. Mental retardation: X marks the spot. Neurology. 2003 Jul 22;61(2):156-7.

Opal P, Garcia J, Propst F, Matilla A, Orr HT, Zoghbi HY.  Mapmodulin/leucine-rich acidic nuclear protein binds the light chain of microtubule associated protein 1B and modulates neuritogenesis.  J Biol Chem.2003 Sep 5;278(36):34691-9.

Cox P, Fowler V, Xu B, Sweatt JD, Paylor R, Zoghbi HY. Mice lacking tropomodulin-2 (Tmod2) show enhanced long-term potentiation, hyperactivity and deficits in learning and memory. Mol Cell Neurosci.2003 May;23(1):1-12.

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 1Cell. 2003 May 16;113(4):457-68.

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 May 8;38(3):375-87.

Watase K, Zoghbi HY. Modelling brain diseases in mice: the challenges of design and analysis. Nat Rev Genet. 2003 Apr;4(4):296-307.

Yoo S-Y, Pennesi ME, Weeber EJ, Xu B, Atkinson R, Chen S, Wu SM, Sweatt JD, Zoghbi HY.   SCA7 knockin mice model human SCA7 and reveal gradual accumulation of ataxin-7 neurons and abnormalities in short-term plasticity. Neuron. 2003 Feb 6;37(3):383-401.

Wallis D, Hamblen M, Zhou Y, Venken KJT, Schumacher A, Grimes HL, Zoghbi HY, Orkin SH, Bellen HJ. The zinc finger transcription factor Gfi1, implicated in lymphomagenesis, is required for inner ear hair cell differentiation and survival. Development. 2003 Jan;130(1):221-32.


Prakash SK, Cormier TA, McCall AE, Garcia JJ, Sierra R, Haupt B, Zoghbi HY, Van den Veyver IB.  Loss of holocytochrome c -type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome. Hum Mol Genet2002 Dec 1;11(25):3237-48.

Shahbazian MD, Zoghbi HY. Rett syndrome and MeCP2: linking epigenetics and neuronal function. Am J Hum Genet. 2002 Dec;71(6):1259-72.

Wang VY, Hassan BA, Bellen HJ, Zoghbi HY. Drosophila atonal fully rescues the phenotype of Math1 null mice. New functions evolve in new cellular contexts.  Curr Biol. 2002 Sep 17;12(18):1611-6.

Jensen P, Zoghbi HY, Goldowitz, D. Dissection of the cellular and molecular events that position cerebellar Purkinje cells: A study of the math1 null-mutant mouse.   J. Neuroscience2002 Sep 15;22(18):8110-6.

Shahbazian MD, Sun Y, Zoghbi HY. Balanced X chromosome inactivation patterns in the Rett syndrome brain. Am J Med Genet. 2002 Aug 1;111(2):164-8.

Zoghbi HY, Nelson D. Scientific and technological synergy: Baylor College of Medicine and the Mental Retardation Research Center. Int J Dev Neurosci. 2002 Jun-Aug;20(3-5):467-8.

Zoghbi HY, Botas J. Mouse and fly models of neurodegeneration. Trends Genet. 2002 Sep;18(9):463-71.

Shahbazian MD, Young  JI, Yuva-Paylor LA, Antalffy BA, Spencer CM, Noebels JL, Armstrong DL, Paylor R, Zoghbi HY. Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3.  Neuron. 2002 Jul 18;35(2):243-54.

Van den Veyver IB, Zoghbi HY. Genetic basis of Rett syndrome. Ment Retard Dev Disabil Res Rev. 2002;8(2):82-6.

Zoghbi HY. Introduction: Rett syndrome. Ment Retard Dev Disabil Res Rev. 2002;8(2):59-60.

Lin X, Jung J, Kang D, Xu B, Zaret KS, Zoghbi HY. Prenylcysteine carboxylmethyltransferase (PCCMT) is essential for the earliest stages of liver development in mice.  Gastroenterology. 2002 Jul;123(1):345-51.

Watase K, Weeber EJ, Xu B, Antalffy B, Nellis A, Yuva-Paylor L, Armstrong D, Sweatt JD, Orr HT, Paylor RL Zoghbi HY. A long CAG repeat in the mouse Sca1 locus replicates human SCA1 features and reveals the impact of protein solubility on selective neurodegeneration. Neuron2002 Jun 13;34(6):905-19.

Opal P, Zoghbi HY. The role of chaperones in polyglutamine disease. Trends Mol Med. 2002 May;8(5):232-6.

Ueda H, Goto J, Hashida H, Lin X, Oyanagi K, Kawano H, Zoghbi HY, Kanazawa I, Okazawa H. Enhanced SUMOylation in polyglutamine diseases. Biochem Biophys Res Commun. 2002 Apr 26;293(1):307-13.

Skinner PJ, Vierra-Green CA, Emamian E, Zoghbi HY, Orr HT. Amino acids in a region of ataxin-1 outside of the polyglutamine tract influence the course of disease in SCA1 transgenic mice. Neuromolecular Med.2002;1(1):33-42.

Chen P, Johnson JE, Zoghbi HY, Segil N. The role of Math1 in inner  ear development: uncoupling the establishment of the sensory primordium from hair cell fate determination. Development. 2002 May;129(10):2495-505.

Gu Y, McIlwain KL, Weeber EJ, Yamagata T, Xu B, Antalffy BA, Reye C, Yuva-Paylor L, Armstrong D, Zoghbi HY, Sweatt, JD, Paylor R, Nelson, DL. Impaired conditioned fear and enhanced long-term potentiation inFmr2 knockout mice.  J. Neuroscience. 2002 Apr 1;22(7):2753-63.

Matsuura T, Ranum LP, Volpini V, Pandolfo M, Sasaki H, Tashiro K, Watase K, Zoghbi HY, Ashizawa T. Spinocerebellar ataxia type 10 is rare in populations other than Mexicans.  Neurology. 2002 Mar 26;58(6):983-4.

Shahbazian MD, Antalffy B, Armstrong DL, Zoghbi HY. Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. Hum Mol Genet. 2002 Jan 15;11(2):115-24.


Shahbazian MD, Orr HT, Zoghbi HY. Reduction of Purkinje cell pathology in SCA1 transgenic mice by p53 deletion. Neurobiol Dis. 2001 Dec;8(6):974-81.

Yang Q, Bermingham N, Finegold M, Zoghbi H.  Requirement of Math1 for secretory cell lineage commitment in the mouse  intestine. Science2001 Dec 7;294(5549):2155-8.

Van den Veyver IB, Zoghbi HY. Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome. Brain Dev. 2001 Dec;23 Suppl 1:S147-51.

Piedras-Renteria ES, Watase K, Harata N, Zhuchenko O, Zoghbi HY, Lee CC, Tsien RW. Increased expression of alpha 1A Ca2+ channel currents arising from expanded trinucleotide repeats in spinocerebellar ataxia type 6. J Neurosci. 2001 Dec 1;21(23):9185-93.

Cox PR, Siddique T, Zoghbi HY. Genomic organization of Tropomodulins 2 and 4 and unusual intergenic and intraexonic splicing of YL-1 and Tropomodulin 4. BMC Genomics. 2001;2(1):7. Epub 2001 Oct 17.

Orr HT, Zoghbi HY. SCA1 molecular genetics: a history of a 13 year collaboration against glutamines. Hum Mol Genet. 2001 Oct 1;10(20):2307-11.

Cormier TA, Prakash SK, Magner DB, Zoghbi HY, Van den Veyver IB.  Analysis of Mid1HccsArhgap6, andMs1311 in X-linked polydactyly (Xpl) and Patchy-fur (Paf) mutant mice. Mamm Genome2001 Oct;12(10):796-8.

Skinner PJ, Vierra-Green CA, Brent Clark H, Zoghbi HY, Orr HT.  Altered trafficking of membrane proteins in Purkinje cells of SCA1 transgenic mice. Am J Pathol. 2001 Sep;159(3):905-13.

Cummings C J, Sun Y, Opal P, Antalffy B, Mestril R, Orr HT, Dillmann WH, Zoghbi HY. Over-expression of inducible HSP70 Chaperone suppresses neuropathology and improves motor function in SCA1 mice. Hum Mol Genet. 2001 Jul 1;10(14):1511-8.

Wang VY, Zoghbi HY. Genetic regulation of cerebellar development. Nat Rev Neurosci. 2001 Jul;2(7):484-91.

Bermingham NA, Hassan B, Fernandez M, Banfi S, Bellen H, Fritzsch B, Zoghbi HY. Proprioceptor pathway development is dependent on Math1.  Neuron. 2001 May;30(2):411-22.

Inoue T, Lin X, Kohlmeier KA, Orr HT, Zoghbi HY, Ross WN. Calcium dynamics and electrophysiological properties of cerebellar Purkinje cells in sca1 transgenic mice.  J Neurophysiol2001 Apr;85(4):1750-60.

Shahbazian MD, Zoghbi HY. Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations. Curr Opin Neurol. 2001 Apr;14(2):171-6.

Shi O, Morris SM Jr, Zoghbi H, Porter CW, O'Brien WE. Generation of a mouse model for arginase II deficiency by targeted disruption of the arginase II gene. Mol Cell Biol. 2001 Feb;21(3):811-3.

Yue S, Serra HG, Zoghbi HY, Orr HT.  The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract.  Hum Mol Genet. 2001 Jan 1;10(1):25-30.


Cummings CJ, Zoghbi HY. Trinucleotide repeats: mechanisms and pathophysiology. Annu Rev Genomics Hum Genet. 2000;1:281-328.

Amir RE, Zoghbi HY. Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations. Am J Med Genet., 2000 Summer;97(2):147-52.

Zoghbi HY, Gage FH, Choi DW. Neurobiology of disease. Curr Opin Neurobiol. 2000 Oct;10(5):655-60.

Fernandez-Funez P, Rosales MLN, de Gouyon B, She W-C, Luchack J, Turiegano E, Benito J, Capovilla M, Skinner PJ, McCall A, Canal I, Orr HT, Zoghbi HY, Botas J.  Identification of genes that modify ataxin-1 induced neurodegeneration.  Nature2000 Nov 2;408(6808):101-6.

Buyse IM, Fang P, Hoon KT, Amir RE, Zoghbi HY, Roa BB. Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. Am J Hum Genet2000 Dec;67(6):1428-36.

Zoghbi HY. Spinocerebellar ataxias. Neurobiol Dis. 2000 Oct;7(5):523-7.

Matsuura T, Yamagata T, Burgess DL, Rasmussen A, Grewal RP, Watase K, Khajavi M, McCall AE, Davis CF, Zu L, Achari M, Pulst SM, Alonso E, Noebels JL, Nelson DL, Zoghbi HY, Ashizawa T. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.  Nature Genet2000 Oct;26(2):191-4.

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.  Hum Mol Genet. 2000 Sep 22;9(15):2305-12.

Heintz N, Zoghbi HY. Insights from mouse models into the molecular basis of neurodegeneration. Annu Rev Physiol. 2000;62:779-802.

Zoghbi HY, Orr HT. Glutamine repeats and neurodegeneration. Annu Rev Neurosci. 2000;23:217-47.

Van den Veyver IB, Zoghbi HY. Methyl-CpG-binding protein 2 mutations in Rett syndrome. Curr Opin Genet Dev. 2000 Jun;10(3):275-9.

Amir RE, Van den Veyver IB, Schultz R, Malicki DM, Tran CQ, Dahle EJ, Philippi A, Timar L, Percy AK, Motil KJ, Lichtarge O, Smith EO, Glaze DG, Zoghbi HY.  Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes.  Ann Neurol2000 May;47(5):670-9.

Orr HT, Zoghbi HY. Reversing neurodegeneration: a promise unfolds. Cell. 2000 Mar 31;101(1):1-4.

Hassan BA, Bermingham NA, He Y, Sun Y, Jan Y-N, Zoghbi HY, Bellen HJ. atonal regulates neurite arborization but does not act as a proneural gene in the Drosophila brain.  Neuron. 2000 Mar;25(3):549-61.

Cummings CJ, Zoghbi HY. Fourteen and counting: unraveling trinucleotide repeat diseases. Hum Mol Genet. 2000 Apr 12;9(6):909-16.

Lorenzetti D, Watase K, Xu B, Antalffy B, Matzuk M, Guo Q, Wang P, Orr H, Zoghbi H. Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus. Hum Mol Genet. 2000 Mar 22;9(5):779-85.

Zhang W, Amir R, Stockton D, Van den Veyver I, Bacino C, Zoghbi H. Terminal osseous dysplasia and pigmentary defects maps to human chromosome Xq27.3-xqter. Am J Hum Genet. 2000 Apr;66(4):1461-4.

Prakash S, Paylor R, Jenna S, Lamarche-Vane N, Armstrong D, Xu B, Mancini M, Zoghbi HY. Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA. Hum Mol Genet. 2000 Mar 1;9(4):477-88.

Helms AW, Abney AL, Ben-Arie N, Zoghbi HY, Johnson JE. Autoregulation and multiple enhancers controlMath1 expression in the developing nervous system.  Development.  2000 Mar;127(6):1185-96.

Cox P, Zoghbi HY. Sequencing, expression analysis, and mapping of three unique human tropomodulins genes and their mouse orthologs.  Genomics2000 Jan 1;63(1):97-107.

Ben-Arie N, Hassan BA, Bermingham NA, Armstrong D, Matzuk MM, Bellen HJ, Zoghbi HY. Functional conservation of atonal and Math 1 in the CNS and PNS. Development. 2000 Mar;127(5):1039-48.

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

Amir R, Roth-Dahle EJ, Zoghbi HY. Candidate gene analysis in Rett syndrome and the identification of 21 SNPs in Xq.  Am J Med Genet. 2000 Jan 3;90(1):69-71.