Huda Zoghbi Lab





Excessive formation and stabilization of dendritic spine clusters in the MECP2-duplication syndrome mouse model of autism
Ash RT. et al. eNeuro. PMID: 33168618

Deleting Mecp2 from the cerebellum rather than its neuronal subtypes causes a delay in motor learning in mice. 
Achilly NP. et al. eLife. PMID: 33494858

Modulation of ATXN1 S776 phosphorylation reveals the importance of allele-specific targeting in SCA1. 
Nitschke L. et al. JCI Insight. PMCID 33554954

Antisense oligonucleotide therapy in a humanized mouse model of MECP2 duplication syndrome. 
Shao, Y. et al. Sci Transl Med. PMID: 33658357

Dual targeting of brain region-specific kinases potentiates neurological rescue in Spinocerebellar ataxia type 1. 
Lee W-S. et al. EMBO J.  PMCID: PMC8013850

Identification and characterization of conserved noncoding cis-regualtory elements that impact Mecp2 expressiona and neurological functions.
Shao Y. et al. Genes Dev. PMCID: PMC8015713

Presymptomatic training mitigates functional deficits in Rett syndrome mice. 
Achilly N, Wang W, Zoghbi HY. Nature. PMCID: PMC8093094

Inhibition of elevated Ras-MAPK signaling normalizes enhanced motor learning and excessive clustered dendritic spine stabilization in the MECP-duplication syndrome mouse model of autism. 
Ash RT. et al. eNeuro. PMID: 3402103

A structural study of the cytoplasmic chaperone effect of 14-3-3 proteins on Ataxin-1.
Leysen S. et al. J Mol Biol. PMCID: PMC8505757

Maturation of P Urkinje cell firing properties relies on neurogenesis of excitatory neurons. 
Van der Heijden ME. et al. eLife. PMCID: PMC8452305




Ito-Ishida A, Yamalanchili HK, Shao Y, Baker SA, Heckman LD, Lavery LA, Kim J-Y, Lombardi LM, Sun Y, Liu Z, Zoghbi HY. 2020. MeCP2 levels regulate the 3D structure of heterochromatic foci in mouse neurons. J Neurosci. Nov 4;40(45):8746-8766. PMCID: PMC7643291.

Ward CS, Huang TW, Herrera JA, Samaco, RC, McGraw CM, Parra DE, Arvide EM, Ito-Ishida A, Meng X, Ure K, Zoghbi HY, Neul JL. 2020. Loss of MeCP2 function across several neuronal populations impairs breathing response to acute hypoxia. Front Neurol. Oct 20;11:593554. PMCID: PMC7662121.

Nitschke L, Tewari A, Coffin SL, Xhako E, Pang K, Gennarino VA, Johnson JL, Blanco FA, Liu Z, Zoghbi HY. 2020. miR760 regulates ATXN1 levels via interaction with its 5’ untranslated region.  Genes Dev. Sep1;34(17-28):1147-1160. PMCID: PMC7462065.

Yalamanchili H, Alcott CE, Ji P, Wagner EJ, Zoghbi HY, Liu Z. PolyA-miner: Accurate assessment of differential alternative poly-adenylation from 3’Seq data using vector projections and non-negative matrix factorization. 2020. Nucleic Acids Res. Jul 9;48(12):e69. PMCID: PMC7337927.

Pang K, Wang W, Zhou J, Cheng C, Han K, Zoghbi HY, Liu Z. 2020. Coexpression enrichment analysis at the single-cell level reveals convergent defccts in neural progenitor cells and their cell-type transitions in neurodevelopmental disorders. Genome Res. Jun;30(6)835-848. PMCID: PMC7370880.

Luo L, Ambrozkiewicz MC, Benseler F, Chen C, Dumontier E, Falkner S, Furlanis E, Gomez AM, Hoshina N, Huang WH, Hutchison MA, Itoh-Maruoka Y, Lavery LA, Li W, Maruo T, Motohashi J, Pai EL, Pelkey KA, Pereira A, Philips T, Sinclair JL, Stogsdill JA, Traunmüller L, Wang J, Wortel J, You W, Abumaria N, Beier KT, Brose N, Burgess HA, Cepko CL, Cloutier JF, Eroglu C, Goebbels S, Kaeser PS, Kay JN, Lu W, Luo L, Mandai K, McBain CJ, Nave KA, Prado MAM, Prado VF, Rothstein J, Rubenstein JLR, Saher G, Sakimura K, Sanes JR, Scheiffele P, Takai Y, Umemori H, Verhage M, Yuzaki M, Zoghbi HY, Kawabe H, Craig AM. 2020. Optimiing nervous system-specific gene targeting with Cre driver lines: Prevalence of germline recombination and influencing factors. Neuron Apr 8;106(1):37-65 ef. PMCID: PMC7377387.

Alcott CE, Yalamanchili HK, Ji P, van der Heijden ME, Saltzman E, Elrod N, Lin A, Leng M, Bhatt B, Hao S, Wang Q, Saliba A, Tang J, Malovannaya A, Wagner EJ, Liu Z, Zoghbi HY. 2020. Partial loss of CFlm25 causes learning deficits and aberrant neuronal alternative polyadenylation. eLife. Apr 2;9:e50895. PMCID: PMC7176433.

Lavery LA, Ure K, Wan YW, Luo C, Trostle AJ, Wang W, Jin H, Lopez J, Lucero J, Durham MA, Castanon R, Nery JR, Liu Z, Goodell M, Ecker JR, Behrens MM, Zoghbi HY. 2020. Losing Dnmt3a dependent methylation in inhibitory neurons impairs neural function by a mechanism impacting Rett syndrome. eLife. Mar 11;9. pii: e52981. doi: 10.7554/eLife.52981. PMCID: PMC7065908.

Chen W, Cai ZL, Chao ES, Chen H, Longley CM, Hao S, Chao HT, Kim JH, Messier JE, Zoghbi HY, Tang J, Swann JW, Xue M. 2020, Stxbp1/Mun19-1 haploinsufficieny impairs inhibition and mediates neurological features of STXBP1encephalopathy. eLife Feb 19:9:348705. PMCID: PMC70562722.

Chen CA, Pal R, Yin J, Tao H, Amawi A, Sabo A, Bainbridge MN, Gibbs RA, Zoghbi HY, Schaaf CP.  2020. Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder. Hum Mol Genet. Feb 1;29(3):459-470. PMCID:  PMC7015847.




Vázquez-Vélez G, Gonzales K, Revelli J-P, Adamski C, Naini FA, Bajic A, Craigen E, Richman R, Heman-Ackah S, Wood M, Rousseaux M, and Zoghbi HY. 2019. Doublecortin like kinase 1 regulates α-Synuclein levels and toxicity. J Neurosci, Nov 20. Pii: 1076-19. PMCID: PMC6948939.

Patel AJ, Wan YW, Al-Ouran R, Revelli JP, Cardenas MF, Oneissi M, Xi L, Jalali A, Magnotti JF, Muzny DM, Doddapaneni H, Sebastian S, Heck KA, Goodman JC, Gopinath SP, Liu Z, Rao G, Plon SE, Yoshor D, Wheeler DA, Zoghbi HY, Klisch TJ. 2019. Molecular profiling predicts meningioma recurrence and reveals loss of DREAM complex repression in aggressive tumors. Proc Natl Acad Sci U S A. Oct 22;116(43):21715-21726. PMCID: PMC6815170.

Chen CA, Wang W, Pedersen SE, Raman A, Seymour ML, Ruiz FR, Xia A, van der Heijden ME, Wang L, Yin J, Lopez J, Rech ME, Lewis RA, Wu SM, Liu Z, Pereira FA, Pautler RG, Zoghbi HY, Schaaf CP. 2019. Nr2fl heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity. Hum Mol Genet. Oct 10. pii: ddz233. doi: 10.1093/hmg/ddz233. PMCID: PMC7104670.

Ballinger EC, Schaaf CP, Patel AJ, de Maio A, Tao H, Talmage DA, Zoghbi HY, Role LW. 2019. Mecp2 deletion from cholinergic neurons selectively impairs recognition memory and disrupts cholinergic modulation of the perirhinal cortex. eNeuro. Sep 27. pii: NEURO.0134-19. doi: 10.1523/ENEURO.0134-19.2019. [Epub ahead of print]. PMCID: PMC6825959.

Meng X, McGraw CM, Wang W, Jing J, Yeh SY, Wang L, Lopez J, Brown AM, Lin T, Chen W, Xue M, Sillitoe RV, Jiang X, Zoghbi HY. 2019. Neurexophilin4 is a selectively expressed α-neurexin ligand that modulates specific cerebellar synapses and motor functions. Elife. Sep 16;8. pii: e46773. doi: 10.7554/eLife.46773. PMCID: PMC6663662.

Suh J, Nitschke L, Herrick SP, DiMarszio BA, Dzhala V, Bae JS, Oram MK, Zheng Y, Hooli B, Mullin K, Gennarino VA, Wasco W, Schmahmann JD, Albers MW, Zoghbi HY*, Tanzi RE*. 2019 Loss of ataxin-1 potentiates Alzheimer's pathogenesis by elevating cerebral BACE1 transcription. Cell. Aug 22;178(5):1159-1175.e17. PMCID: PMC6726125. *Co-corresponding authors.

Jeong HH, Kim SY, Rousseaux MWC, Zoghbi HY, Liu Z.  2019.  Beta-binomial modeling of CRISPR pooled screen data identifies target genes with greater sensitivity and fewer false negatives. Genome Res. Jun. 29(6):999-1008. PMCID: PMC6581060.

Huichalaf CH, Al-Ramahi I, Park KW, Grunke SD, Lu N, Haro M, El-Zein K, Gallego-Flores T, Perez AM, Jung SY, Botas J, Zoghbi HY, Jankowsky JL. 2019. Cross-species genetic screens to identify kinase targets for APP reduction in Alzheimer's disease. Hum Mol Genet. Jun 15;28(12):2014-2029. PMCID: PMC6548227.

Wang L, Adamski CJ, Bondar VV, Craigen E, Collette JR, Pang K, Han K, Jain A, Y Jung S, Liu Z, Sifers RN, Holder JL Jr, Zoghbi HY.  2019.  A kinome-wide RNAi screen identifies ERK2 as a druggable regulator of Shank3 stability. Mol Psychiatry. Jan 29. Doi:1.1038/s41380-018-0325-9. PMCID: PMC6663662.




Friedrich J, Kordasiewicz HB, O’Callaghan B, Handler HP, Wagener C, Duvic L, Swayze EE, Rainwater O, Hofstra B, Benneyworth M, Nichols-Meade T, Yang P, Chen Z, Ortiz JP, Clark HB, Oz G, Larson S, Zoghbi HY, Henzler C, and Orr HT. 2018. Antisense oligonucleotide-mediated ataxin-1 reduction prolongs survival in SCA1 mice and reveals disease-associated transcriptome profiles. JCI Insight, Nov 2;3(21). Pii: 123193. PMCID: PMC6238731.

De Maio A, Yalamanchi HK, Adamski CJ, Gennarino VA, Liu Z, Qin J, Jung SY, Richman R, Orr H, and Zoghbi HY. 2018. RBM17 interacts with U2SURP and CHERP to regulate expression and splicing of RNA-processing proteins. Cell Rep, Oct 16;25(3):726-736.e7. PMCID: PMC6292215.

Rousseaux MWC, Vazquez-Velez GE, Al-Ramahi I, Jeong HH, Bajic A, Revelli JP, Ye H, Phan ET, Deger JM, Perez AM, Kim JY, Lavery LA, Xu Q, Li MZ, Kang H, Kim JJ, Shulman JM, Westbrook TF, Elledge SJ, Liu Z. Botas K. and Zoghbi HY. 2018. A druggable genome screen identifies modifiers of a–synuclein levels via a tiered cross-species validation approach. J Neurosci, Oct 24;38(43):9286-9301. PMCID: PMC6199406.

Ash R, Fahey P, Park J, Zoghbi HY, and Smirnakis S. 2018. Increased axonal bouton stability during learning in the mouse model of MECP2 duplication syndrome. eNeuro, Aug 10;5(3). Pii:ENEURO.0056-17.2018. PMCID: PMC6086213.

Raman AT, Pohodich AE, Wan YW, Yalamanchili HK, Lowry WE, Zoghbi HY, and Liu Z. 2018. Apparent bias toward long gene misregulation in MeCP2 syndromes disappears after controlling for baseline variations. Nat Commun, Aug 13;9(1):3225. PMCID: PMC6089998.

Kee SE, Mou X, Zoghbi HY, and Ji D. 2018. Impaired spatial memory codes in a mouse model of Rett syndrome. eLife Jul 20;7. Pii: e31451. PMCID: PMC6054527.

Van der Heijden ME and Zoghbi HY. 2018. Loss of Atoh1 from neurons regulating hypoxic and hypercapnic chemoresponses causes respiratory failure in mice. eLife, Jul 4;7. Pii: e38455. PMCID: 6067883.

Rousseaux MW, Revelli JP, Vazquez-Velez GE, Kim JY, Craigen E, Gonzales K, Beckinghausen J, and Zoghbi HY. 2018. Depleting Trim28 in adult mice is well tolerated and reduces levels of a-synuclein and tau. eLife, June 4:7. pii. E36768. PMCID: PMC5993537.

Bondar VV, Adamski CJ, Onur TS, Tan Q, Wang L, Diaz-Gacia J, Park J, Orr HT, Botas J, and Zoghbi HY. 2018. PAK1 regulates ATXN1 levels providing an opportunity to modify its toxicity in Spinocerebellar ataxia type 1. Hum Mol Genet, Aug 15’27(16):2863-2873. PMCID: PMC6077814.

Ito-Ishida A, Yamalanchili HK, Shao Y, Baker SA, Heckman LD, Lavery LA, Kim J-Y, Lombardi LM, Sun Y, Liu Z, and Zoghbi HY, 2018. Genome-wide distribution of linker histone H1.0 is independent of MeCP2. Nat Neurosci, Jun;21(6):794-798. PMCID: PMC6099063.

Pérez Ortiz JM, Mollema N, Toker N, Adamski CJ, O’Callaghan B, Duvick L, Friedrich J, Walters MA, Strasser J, Hawkinson JE, Zoghbi HY, Henzler C, Orr HT, Lagalwar S. 2018. Neurobiol Dis, Aug;116:93-105. PMCID: PMC6028938.

Pohodich AE, Yalamachi H, Raman AT, Wan YW, Gundry M, Hao S, Jin H, Tang J, Liu Z, and Zoghbi HY. 2018. Forniceal deep brain stimulation induces gene expression and splicing changes that promote neurogenesis and plasticity. eLife, Mar 23;7. pii:e34031. PMCID: PMC5906096.

Rousseaux MWC*, Tschumperlin T*, Lu HC*, Lackey EP, Bondar VV, Wan YW, Tan Q, Adamski CJ, Friedrich J, Twaroski K, Chen W, Tolar J, Henler C, Sharma A, Bajić A, Lin T, Duvick L, Liu Z, Sillitoe RV, Zoghbi HY#, and Orr HT#. 2018. ATXN1-CIC complex is the primary diver of cerebellar pathology in Spinocerebellar ataxia type 1 through a gain-of-function mechanism. Neuron, Mar 21;97(6):1235-1243.e5. (*co-first authors; # co-corresponding authors). PMID: 29526553.

Rousseaux MW, Revelli JP, Vazquez-Velez GE, Kim JY, Craigen E, Gonzales K, Beckinghausen J, and Zoghbi HY. 2018. Depleting Trim28 in adult mice is well tolerated and reduces levels of a-synuclein and tau. BioRxiv, Mar 19. Doi:

Gennarino VA, Palmer EE, McDonell LM, Wang L, Adamski CJ, Koire A, See L, Chen CA, Schaaf CP, Rosenfeld JA, Panzer JA, Moog U, Hao S, Bye A, Kirk EP, Stankiewicz P, Breman AM, McBride A, Kandula T, Dubbs HA, Macintosh R, Cardamone M, Zhu Y, Ying K, Dias KR, Cho MT, Henderson LB, Baskin B, Morris P, Tao J, Cowley MJ, Dinger ME, Roscioli T, Caluseriu O, Suchowersky O, Sachdev RK, Lichtarge O, Tang J, Boycott KM, Holder, Jr. JL and Zoghbi HY. 2018. A mild PUM1 mutation is associated with adult-onset ataxia, whereas haploinsufficiency causes developmental delay and seizures. Cell, Feb 22;172(5):924-936. PMCID: PMC5832058.

Orengo JP, van der Heijden ME, Hao S, Tang J, Orr HT, and Zoghbi HY. 2017. Motor neuron degeneration correlates with respiratory dysfunction in SCA1. Dis Model Mech, Jan 29; pii.dmm.032623. PMID 29419414.

Yin J, Chen W, Chao ES, Soriano S, Wang L, Wang W, Cummock SE, Tao H. Pang K. Liu Z, Pereira FA, Samaco RC, Zoghbi HY, Xue M, and Schaaf CP. 2018. Otud7a knockout mice recapitulate many neurological features of 15q13.3 microdeletion syndrome. Am J Hum Genet, Feb 1;102(2):296-308.

Tan Q, Brunetti L, Rousseaux MWC, Lu HC, Wan YW, Revelli JP, Liu Z, Goodell MA, and Zoghbi HY. 2018. Loss of Capicua alters early T cell development and predisposes mice to T cell lymphoblastic leukemia/lymphoma. Proc Natl Acad Sci U S A, Jan 30;pii:201716452 [Epub ahead of print]. PMCID: PMC5816173.




Klisch TJ, Vainstein A, Patel A, and Zoghbi H. 2017. Jak2-mediated phosphorylation of Atoh1 is critical for medulloblastoma growth. eLife, Nov;6.pii:e31181. PMCID: PMC5736349.

Lombardi LM, Zaghlula M, Sztainberg Y, Baker SA, Klisch TJ, Tang AA, Huang EJ, and Zoghbi HY. 2017. Sci Transl Med, Aug 23;9(404).pii:eaaf7488. PMCID: PMCC5736385.

Xie WR, Jen HI, Seymour ML, Yeh SY, Pereira FA, Groves AK, Klisch TJ, Zoghbi HY. 2017. An Atoh-S193A phosphor-mutant allele causes hearing deficits and motor impairment. J Neurosci, 6;37(36):8583-8594. PMID: 28729444.

Jeong HH, Kim SY, Rousseaux MWC, Zoghbi HY, and Liu Z. CRISPRcloud: A secure cloud-based pipeline CRISPR pooled screen deconvolution. Bioinformatics, Sept 15;33:18. PMID: 28541456.

Zoghbi HY. Solving the puzzle of neurological diseases: an interview with Huda Zoghbi. Dis Model Mech. 2017 May 1;10(5):503-507. doi: 10.1242/dmm.029751. PMID: 28468936

Yeh SY, Huang WH, Wang W, Ward CS, Chao ES, Wu Z, Tang B, Tang J, Sun JJ, Esther van der Heijden M, Gray PA, Xue M, Ray RS, Ren D, Zoghbi HY. Respiratory Network Stability and Modulatory Response to Substance P Require Nalcn. Neuron. 2017 Apr 19;94(2):294-303.e4. doi: 10.1016/j.neuron.2017.03.024. Epub 2017 Apr 6. PMID: 28392070

Lu HC, Tan Q, Rousseaux MW, Wang W, Kim JY, Richman R, Wan YW, Yeh SY, Patel JM, Liu X, Lin T, Lee Y, Fryer JD, Han J, Chahrour M, Finnell RH, Lei Y, Zurita-Jimenez ME, Ahimaz P, Anyane-Yeboa K, Van Maldergem L, Lehalle D, Jean-Marcais N, Mosca-Boidron AL, Thevenon J, Cousin MA, Bro DE, Lanpher BC, Klee EW, Alexander N, Bainbridge MN, Orr HT, Sillitoe RV, Ljungberg MC, Liu Z, Schaaf CP, Zoghbi HY. Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. Nat Genet. 2017 Apr;49(4):527-536. doi: 10.1038/ng.3808. Epub 2017 Mar 13. PMID: 28288114

Jung SY, Choi JM, Rousseaux MW, Malovannaya A, Kim JJ, Kutzera J, Wang Y, Huang Y, Zhu W, Maity S, Zoghbi HY, Qin J. An Anatomically Resolved Mouse Brain Proteome Reveals Parkinson Disease-relevant Pathways. Mol Cell Proteomics. 2017 Apr;16(4):581-593. doi: 10.1074/mcp.M116.061440. Epub 2017




Tan Q, Yalamanchili HK, Park J, De Maio A, Lu HC, Wan YW, White JJ, Bondar VV, Sayegh LS, Liu X, Gao Y, Sillitoe RV, Orr HT, Liu Z, Zoghbi HY. Extensive cryptic splicing upon loss of RBM17 and TDP43 in neurodegeneration models. Hum Mol Genet. 2016 Dec 1;25(23):5083-5093. doi: 10.1093/hmg/ddw337. PMID:28007900

Bhat N, Park J, Zoghbi HY, Arthur JS, Zaret KS. The Chromatin Modifier MSK1/2 Suppresses Endocrine Cell Fates during Mouse Pancreatic Development. PLoS One. 2016 Dec 14;11(12):e0166703. doi: 10.1371/journal.pone.0166703. eCollection 2016. PMID: 27973548

Katsnelson A, De Strooper B, Zoghbi HY. Neurodegeneration: From cellular concepts to clinical applications. Sci Transl Med. 2016 Nov 9;8(364):364ps18. Review. PMID: 27831899

Sztainberg Y, Zoghbi HY. Lessons learned from studying syndromic autism spectrum disorders. Nat Neurosci. 2016 Oct 26;19(11):1408-1417. doi: 10.1038/nn.4420. Review. PMID: 27786181

Rousseaux MW, de Haro M, Lasagna-Reeves CA, De Maio A, Park J, Jafar-Nejad P, Al-Ramahi I, Sharma A, See L, Lu N, Vilanova-Velez L, Klisch TJ, Westbrook TF, Troncoso JC, Botas J, Zoghbi HY. TRIM28 regulates the nuclear accumulation and toxicity of both alpha-synuclein and tau. Elife. 2016 Oct 25;5. pii: e19809. doi: 10.7554/eLife.19809. PMID: 27779468

Lasagna-Reeves CA, de Haro M, Hao S, Park J, Rousseaux MW, Al-Ramahi I, Jafar-Nejad P, Vilanova-Velez L, See L, De Maio A, Nitschke L, Wu Z, Troncoso JC, Westbrook TF, Tang J, Botas J, Zoghbi HY. Reduction of Nuak1 Decreases Tau and Reverses Phenotypes in a Tauopathy Mouse Model. Neuron. 2016 Oct 1. pii: S0896-6273(16)30581-5. doi:10.1016/j.neuron.2016.09.022. PMID: 27720485

Zoghbi HY. Rett Syndrome and the Ongoing Legacy of Close Clinical Observation. Cell. 2016 Oct 6;167(2):293-297. doi: 10.1016/j.cell.2016.09.039. PMID: 27716498

Lu H, Ash RT, He L, Kee SE, Wang W, Yu D, Hao S, Meng X, Ure K, Ito-Ishida A, Tang B, Sun Y, Ji D, Tang J, Arenkiel BR, Smirnakis SM, Zoghbi HY. Loss and Gain of MeCP2 Cause Similar Hippocampal Circuit Dysfunction that Is Rescued by Deep Brain Stimulation in a Rett Syndrome Mouse Model. Neuron. 2016 Aug 17;91(4):739-47. doi: 10.1016/j.neuron.2016.07.018. PMID: 27499081

Meng X, Wang W, Lu H, He LJ, Chen W, Chao ES, Fiorotto ML, Tang B, Herrera JA, Seymour ML, Neul JL, Pereira FA, Tang J, Xue M, Zoghbi HY. Manipulations of MeCP2 in glutamatergic neurons highlight their contributions to Rett and other neurological disorders.. Elife. 2016 Jun 21;5. pii: e14199. doi: 10.7554/eLife.14199. PMID: 27328325

Ure K, Lu H, Wang W, Ito-Ishida A, Wu Z, He LJ, Sztainberg Y, Chen W, Tang J, Zoghbi HY, Restoration of Mecp2 expression in GABAergic neurons is sufficient to rescue multiple disease features in a mouse model of Rett syndrome. Elife. 2016 Jun 21;5. pii: e14198. doi: 10.7554/eLife.14198. PMID: 27328321

Ingram M, Wozniak EA, Duvick L, Yang R, Bergmann P, Carson R, O'Callaghan B, Zoghbi HY, Henzler C, Orr HT. Cerebellar Transcriptome Profiles of ATXN1 Transgenic Mice Reveal SCA1 Disease Progression and Protection Pathways..Neuron. 2016 Mar 16;89(6):1194-207. doi: 10.1016/j.neuron.2016.02.011. Epub 2016 Mar 3. PMID: 26948890

Zoghbi HY, Beaudet AL. Epigenetics and Human Disease. Cold Spring Harb Perspect Biol. 2016 Feb 1;8(2):a019497. doi: 10.1101/cshperspect.a019497. Review. PMID: 26834142

Quan XJ, Yuan L, Tiberi L, Claeys A, De Geest N, Yan J, van der Kant R, Xie WR, Klisch TJ, Shymkowitz J, Rousseau F, Bollen M, Beullens M, Zoghbi HY, Vanderhaeghen P, Hassan BA. Post-translational Control of the Temporal Dynamics of Transcription Factor Activity Regulates Neurogenesis. Cell. 2016 Jan 28;164(3):460-75. doi: 10.1016/j.cell.2015.12.048. PMID: 26824657




Lasagna-Reeves CA, Rousseaux MW, Guerrero-Munoz MJ, Vilanova-Velez L, Park J, See L, Jafar-Nejad P, Richman R, Orr HT, Kayed R, Zoghbi HY. Ataxin-1 oligomers induce local spread of pathology and decreasing them by passive immunization slows Spinocerebellar ataxia type 1 phenotypes. Elife. 2015 Dec 17;4. pii: e10891. doi: 10.7554/eLife.10891. PMID: 26673892

Sztainberg Y, Chen HM, Swann JW, Hao S, Tang B, Wu Z, Tang J, Wan YW, Liu Z, Rigo F, Zoghbi HY. Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides. Nature. 2015 Dec 3;528(7580):123-6. doi: 10.1038/nature16159. PMID: 26605526

Ito-Ishida A, Ure K, Chen H, Swann JW, Zoghbi HY. Loss of MeCP2 in Parvalbumin-and Somatostatin-Expressing Neurons in Mice Leads to Distinct Rett Syndrome-like Phenotypes. Neuron. 2015 Nov 18;88(4):651-8. doi: 10.1016/j.neuron.2015.10.029. PMID: 26590342

Hao S, Tang B, Wu Z, Ure K, Sun Y, Tao H, Gao Y, Patel AJ, Curry DJ, Samaco RC, Zoghbi HY, Tang J. Forniceal deep brain stimulation rescues hippocampal memory in Rett syndrome mice. Nature. 2015 Oct 15;526(7573):430-4. doi: 10.1038/nature15694. PMID: 26469053

Gennarino VA, Alcott CE, Chen CA, Chaudhury A, Gillentine MA, Rosenfeld JA, Parikh S, Wheless JW, Roeder ER, Horovitz DD, Roney EK, Smith JL, Cheung SW, Li W, Neilson JR, Schaaf CP, Zoghbi HY. NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation. Elife. 2015 Aug 27;4. doi: 10.7554/eLife.10782. PMID: 26312503

Baker SA, Lombardi LM, Zoghbi HY. Karyopherin alpha 3 and Karyopherin alpha 4 Mediate Nuclear Import of Methyl-CpG Binding Protein 2. J Biol Chem. 2015 Aug 5. pii: jbc.M115.658104. PMID: 26245896

Lombardi LM, Baker SA, Zoghbi HY. MECP2 disorders: from the clinic to mice and back. J Clin Invest. 2015 Aug 3;125(8):2914-23. doi: 10.1172/JCI78167. Epub 2015 Aug PMID: 26237041

Pohodich AE, Zoghbi HY. Rett syndrome: disruption of epigenetic control of postnatal neurological functions. Hum Mol Genet. 2015 Jun 9. pii: ddv217. PMID: 26060191

Lasagna-Reeves CA, Rousseaux MW, Guerrero-Muñoz MJ, Park J, Jafar-Nejad P, Richman R, Lu N, Sengupta U, Litvinchuk A, Orr HT, Kayed R, Zoghbi HY. A native interactor scaffolds and stabilizes toxic ATAXIN-1 oligomers in SCA1. Elife. 2015 May 19;4. doi: 10.7554/eLife.07558. PMID: 25988806

Chen L, Chen K, Lavery LA, Baker SA, Shaw CA, Li W, Zoghbi HY. MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome. Proc Natl Acad Sci U S A. 2015 Apr 28;112(17):5509-14. doi: 10.1073/pnas.1505909112. PMID: 25870282

Cai T, Jen HI, Kang H, Klisch TJ, Zoghbi HY, Groves AK. Characterization of the transcriptome of nascent hair cells and identification of direct targets of the Atoh1 transcription factor. J Neurosci. 2015 Apr 8;35(14):5870-83. doi: 10.1523/JNEUROSCI.5083-14.2015. PMID: 25855195

Han K, Chen H, Gennarino VA, Richman R, Lu HC, Zoghbi HY. Fragile X-like behaviors and abnormal cortical dendritic spines in cytoplasmic FMR1-interacting protein 2-mutant mice. Hum Mol Genet. 2015 Apr 1;24(7):1813-23. PMID: 25432536

Gennarino VA, Singh RK, White JJ, De Maio A, Han K, Kim JY, Jafar-Nejad P, di Ronza A, Kang H, Sayegh LS, Cooper TA, Orr HT, Sillitoe RV, Zoghbi HY. Pumilio1 haploinsufficiency leads to SCA1-like neurodegeneration by increasing wild-type Ataxin1 levels. Cell. 2015 Mar 12;160(6):1087-98. doi: 10.1016/j.cell.2015.02.012. PMID: 25768905

Deep brain stimulation for Parkinson disease: the 2014 Lasker-DeBakey Clinical Medical Research Award. Rousseaux MW, Zoghbi HY. JAMA Neurol. 2015 Mar;72(3):259-60. doi: 10.1001/jamaneurol.2014.4109. PMID: 25560048

Kim E, Park S, Choi N, Lee J, Yoe J, Kim S, Jung HY, Kim KT, Kang H, Fryer JD, Zoghbi HY, Hwang D, Lee Y. Deficiency of Capicua disrupts bile acid homeostasis. Sci Rep. 2015 Feb 5;5:8272. doi: 10.1038/srep08272. PMID: 25653040




Zoghbi HY. From anatomy to electrophysiology: clinical Lasker goes deep. Cell. 2014 Sep 11;158(6):1225-9. doi: 10.1016/j.cell.2014.08.021. PMID: 25215480

Heckman LD, Chahrour MH, Zoghbi HY. Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice. Elife. 2014 Jun 26;3. doi: 10.7554/eLife.02676. PMID: 24970834

Tupal S, Huang WH, Picardo MC, Ling GY, Del Negro CA, Zoghbi HY, Gray PA. Atoh1-dependent rhombic lip neurons are required for temporal delay between independent respiratory oscillators in embryonic mice. Elife. 2014 May 14;3:e02265. doi: 10.7554/eLife.02265. PMID: 24842997

Enns GM, Shashi V, Bainbridge M, Gambello MJ, Zahir FR, Bast T, Crimian R, Schoch K, Platt J, Cox R, Bernstein JA, Scavina M, Walter RS, Bibb A, Jones M, Hegde M, Graham BH, Need AC, Oviedo A, Schaaf CP, Boyle S, Butte AJ, Chen R, Clark MJ, Haraksingh R, Cowan TM, He P, Langlois S, Zoghbi HY, Snyder M, Gibbs RA, Freeze HH, Goldstein DB. Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Genet Med. 2014 Oct;16(10):751-8. doi: 10.1038/gim.2014.22. Epub 2014 Mar 20. PMID: 24651605

Bosch DG, Boonstra FN, Gonzaga-Jauregui C, Xu M, de Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers LE, Spruijt L, Blokland EA, Chen CA; Baylor-Hopkins Center for Mendelian Genomics, Lewis RA, Tsai SY, Gibbs RA, Tsai MJ, Lupski JR, Zoghbi HY, Cremers FP, de Vries BB, Schaaf CP. NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet. 2014 Feb 6;94(2):303-9. doi: 10.1016/j.ajhg.2014.01.002. Epub 2014 Jan 23. PMID: 24462372

Suter B, Treadwell-Deering D, Zoghbi HY, Glaze DG, Neul JL. Brief report: MECP2 mutations in people without Rett syndrome. J Autism Dev Disord. 2014 Mar;44(3):703-11. doi: 10.1007/s10803-013-1902-z. PMID: 23921973




Han K, Holder Jr JL, Schaaf CP, Lu H, Chen H, Kang H, Tang J, Wu Z, Hao S, Cheung SW, Yu P, Sun H, Breman AM, Patel A, Lu HC, Zoghbi HY. SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties. Nature. 2013 Oct 23. doi: 10.1038/nature12630. PMID: 24153177

Perroud B, Jafar-Nejad P, Wikoff WR, Gatchel JR, Wang L, Barupal DK, Crespo-Barreto J, Fiehn O, Zoghbi HY, Kaddurah-Daouk R. Pharmacometabolomic signature of ataxia SCA1 mouse model and lithium effects.PLoS One. 2013 Aug 2;8(8):e70610. doi: 10.1371/journal.pone.0070610. Print 2013. PMID: 23936457

Suter B, Treadwell-Deering D, Zoghbi HY, Glaze DG, Neul JL. Brief Report: MECP2 Mutations in People Without Rett Syndrome. J Autism Dev Disord. 2013 Aug 7. PMID: 23921973

Ju H, Kokubu H, Todd TW, Kahle JJ, Kim S, Richman R, Chirala K, Orr HT, Zoghbi HY, Lim J.Polyglutamine disease toxicity is regulated by Nemo-like kinase in spinocerebellar ataxia type 1. J Neurosci. 2013 May 29;33(22):9328-36. doi: 10.1523/JNEUROSCI.3465-12.2013. PMID: 23719801

Park J, Al-Ramahi I, Tan Q, Mollema N, Diaz-Garcia JR, Gallego-Flores T, Lu HC, Lagalwar S, Duvick L, Kang H, Lee Y, Jafar-Nejad P, Sayegh LS, Richman R, Liu X, Gao Y, Shaw CA, Arthur JS, Orr HT, Westbrook TF, Botas J, Zoghbi HY. RAS-MAPK-MSK1 pathway modulates ataxin 1 protein levels and toxicity in SCA1.Nature. 2013 Jun 20;498(7454):325-31. doi: 10.1038/nature12204. Epub 2013 May 29. PMID: 23719381

Kahle JJ, Souroullas GP, Yu P, Zohren F, Lee Y, Shaw CA, Zoghbi HY, Goodell MA. Ataxin1L is a regulator of HSC function highlighting the utility of cross-tissue comparisons for gene discovery. PLoS Genet. 2013 Mar;9(3):e1003359. doi: 10.1371/journal.pgen.1003359. Epub 2013 Mar 28. PMID: 23555280

Ebner BA, Ingram MA, Barnes JA, Duvick LA, Frisch JL, Clark HB, Zoghbi HY, Ebner TJ, Orr HT. Purkinje cell ataxin-1 modulates climbing fiber synaptic input in developing and adult mouse cerebellum. J Neurosci. 2013 Mar 27;33 (13):5806-20. doi: 10.1523/JNEUROSCI.6311-11.2013. PMID: 23536093

Kim E, Lu HC, Zoghbi HY, Song JJ. Structural basis of protein complex formation and reconfiguration by polyglutamine disease protein Ataxin-1 and Capicua. Genes Dev. 2013 Mar 15;27(6):590-5. doi: 10.1101/gad.212068.112. PMID: 23512657

Baker SA, Chen L, Wilkins AD, Yu P, Lichtarge O, Zoghbi HY. An AT-Hook Domain in MeCP2 Determines the Clinical Course of Rett Syndrome and Related Disorders. Cell. 2013 Feb 28;152(5):984-96. doi: 10.1016/j.cell.2013.01.038. PMID: 23452848

Han K, Gennarino VA, Lee Y, Pang K, Hashimoto-Torii K, Choufani S, Raju CS, Oldham MC, Weksberg R, Rakic P, Liu Z, Zoghbi HY. Human-specific regulation of MeCP2 levels in fetal brains by microRNA miR-483-5p. Genes Dev. 2013 Feb 21

Zoghbi HY. The basics of translation. Science. 2013 Jan 18;339(6117):250. doi: 10.1126/science.1234799. No abstract available. PMID: 23329019




Yang T, Ramocki MB, Neul JL, Lu W, Roberts L, Knight J, Ward CS, Zoghbi HY, Kheradmand F, Corry DB.Overexpression of methyl-CpG binding protein 2 impairs T(H)1 responses. Sci Transl Med. 2012 Dec 5;4(163):163ra158. doi: 10.1126/scitranslmed.3004430. PMID: 23220634 [PubMed - in process]
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Katz DM, Berger-Sweeney JE, Eubanks JH, Justice MJ, Neul JL, Pozzo-Miller L, Blue ME, Christian D, Crawley JN, Giustetto M, Guy J, Howell CJ, Kron M, Nelson SB, Samaco RC, Schaevitz LR, St Hillaire-Clarke C, Young JL, Zoghbi HY, Mamounas LA. Preclinical research in Rett syndrome: setting the foundation for translational success. Dis Model Mech. 2012 Nov;5(6):733-45. doi: 10.1242/dmm.011007. PMID: 23115203 [PubMed - in process] Free PMC Article
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Samaco RC, McGraw CM, Ward CS, Sun Y, Neul JL, Zoghbi HY. Female Mecp2(+/-) mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies. Hum Mol Genet. 2013 Jan 1;22(1):96-109. doi: 10.1093/hmg/dds406. Epub 2012 Oct 1. PMID: 23026749 [PubMed - in process] Free Article
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Hughes V, Sheng M, Zoghbi H. Childhood disorders of the synapse: challenges and opportunities. Sci Transl Med. 2012 Sep 19;4(152):152ps17. PMID: 22993293 [PubMed - in process]
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Huang WH, Tupal S, Huang TW, Ward CS, Neul JL, Klisch TJ, Gray PA, Zoghbi HY. Atoh1 governs the migration of postmitotic neurons that shape respiratory effectiveness at birth and chemoresponsiveness in adulthood. Neuron. 2012 Sep 6;75(5):799-809. doi: 10.1016/j.neuron.2012.06.027. PMID: 22958821 [PubMed - indexed for MEDLINE]
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Chao HT, Zoghbi HY. MeCP2: only 100% will do. Nat Neurosci. 2012 Jan 26;15(2):176-7. doi: 10.1038/nn.3027. No abstract available. PMID: 22281712 [PubMed - indexed for MEDLINE]
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Zoghbi HY, Bear MF. Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities. Cold Spring Harb Perspect Biol. 2012 Mar 1;4(3). doi:pii: a009886. 10.1101/cshperspect.a009886. Review. PMID: 22258914 [PubMed - indexed for MEDLINE]
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Zoghbi HY, Bear MF. Synaptic Dysfunction in Neurodevelopmental Disorders Associated with Autism and Intellectual Disabilities. Cold Spring Harb Perspect Biol 2012 Jan 18. pii: cshperspect.a009886v1. doi: 10.1101/cshperspect.a009886. [Epub ahead of print] PubMed PMID: 22258914




Fryer JD, Yu P, Kang H, Mandel-Brehm C, Carter AN, Crespo-Barreto J, Gao Y, Flora A, Shaw C, Orr HT, Zoghbi HY. Exercise and genetic rescue of SCA1 via the transcriptional repressor Capicua. Science. 2011 Nov 4;334(6056):606-7. PMID: 22053053. Reprint available at Science.

Lee Y, Fryer JD, Kang H, Crespo-Barreto J, Bowman AB, Gao Y, Kahle JJ, Hong JS, Kheradmand F, Orr HT, Finegold MJ, Zoghbi HY. Lee Y, Fryer JD, Kang H, Crespo-Barreto J, Bowman AB, Gao Y, Kahle JJ, Hong JS, Kheradmand F, Orr HT, Finegold MJ, Zoghbi HY. ATXN1 Protein Family and CIC Regulate Extracellular Matrix Remodeling and Lung Alveolarization. Dev Cell. 2011 Oct 18;21(4):746-57. PMID: 22014525.

Sakai Y, Shaw CA, Dawson BC, Dugas DV, Al-Mohtaseb Z, Hill DE, Zoghbi HY. Protein interactome reveals converging molecular pathways among autism disorders. Sci Transl Med. 2011 Jun 8; 3(86): 86ra49. PubMed PMID: 21653829. Reprint available at Science Translational Medicine.

McGraw CM, Samaco RC, Zoghbi HY. Adult Neural Function Requires MeCP2. Science. 2011 Jun 2. [Epub ahead of print] PubMed PMID: 21636743. Reprint available at Science.

Schaaf CP, Sabo A, Sakai Y, Crosby J, Muzny D, Hawes A, Lewis L, Akbar H, Varghese R, Boerwinkle E, Gibbs RA, Zoghbi HY. Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorder. Hum Mol Genet. 2011 May 30. [Epub ahead of print] PubMed PMID: 21624971

Gehrking KM, Andresen JM, Duvick L, Lough J, Zoghbi HY, Orr HT. Partial loss of Tip60 slows mid-stage neurodegeneration in a spinocerebellar ataxia type 1 (SCA1) mouse model.
Hum Mol Genet. 2011 Jun 1;20(11):2204-12. Epub 2011 Mar 22. PubMed PMID: 21427130

Maricich SM, Aqeeb KA, Moayedi Y, Mathes EL, Patel MS, Chitayat D, Lyon G, Leroy JG, Zoghbi HY.Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development. J Child Neurol. 2011 Mar;26(3):288-94. PubMed PMID: 21383226

Klisch TJ, Xi Y, Flora A, Wang L, Li W, Zoghbi HY. In vivo Atoh1 targetome reveals how a proneural transcription factor regulates cerebellar development. Proc Natl Acad Sci U S A. 2011 Feb 22;108(8):3288-93. Epub 2011 Feb 7. PubMed PMID: 21300888

Jafar-Nejad P, Ward CS, Richman R, Orr HT, Zoghbi HY. Regional rescue of spinocerebellar ataxia type 1 phenotypes by 14-3-3epsilon haploinsufficiency in mice underscores complex pathogenicity in neurodegeneration. Proc Natl Acad Sci U S A. 2011 Feb 1;108(5):2142-7. Epub 2011 Jan 18. PubMed PMID: 21245341

Kahle JJ, Gulbahce N, Shaw CA, Lim J, Hill DE, Barabási AL, Zoghbi HY. Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia.Hum Mol Genet. 2011 Feb 1;20(3):510-27. Epub 2010 Nov 15. PubMed PMID: 21078624.




Chao HT, Chen H, Samaco RC, Xue M, Chahrour M, Yoo J, Neul JL, Gong S, Lu HC, Heintz N, Ekker M, Rubenstein JL, Noebels JL, Rosenmund C, Zoghbi HY. Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. Nature. 2010 Nov 11;468(7321):263-9. PubMed PMID: 21068835

Zoghbi HY, Warren ST. Neurogenetics: advancing the "next-generation" of brain research. Neuron. 2010 Oct 21;68(2):165-73. PubMed PMID: 20955921

Duvick L, Barnes J, Ebner B, Agrawal S, Andresen M, Lim J, Giesler GJ, Zoghbi HY, Orr HT. SCA1-like disease in mice expressing wild-type ataxin-1 with a serine to aspartic acid replacement at residue 776.
Neuron. 2010 Sep 23;67(6):929-35. PubMed PMID: 20869591

Crespo-Barreto J, Fryer JD, Shaw CA, Orr HT, Zoghbi HY. Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis. PLoS Genet. 2010 Jul 8;6(7):e1001021. PubMed PMID: 20628574; PubMed Central PMCID: PMC2900305.

White MC, Gao R, Xu W, Mandal SM, Lim JG, Hazra TK, Wakamiya M, Edwards SF, Raskin S, Teive HA, Zoghbi HY, Sarkar PS, Ashizawa T. Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10. PLoS Genet. 2010 Jun 10;6(6):e1000984. PubMed PMID: 20548952; PubMed Central PMCID: PMC2883596.

Akil H, Brenner S, Kandel E, Kendler KS, King MC, Scolnick E, Watson JD, Zoghbi HY. Medicine. The future of psychiatric research: genomes and neural circuits. Science. 2010 Mar 26;327(5973):1580-1. PubMed PMID: 20339051.