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Items: 1 to 50 of 337

1.

Increased Axonal Bouton Stability during Learning in the Mouse Model of MECP2 Duplication Syndrome.

Ash RT, Fahey PG, Park J, Zoghbi HY, Smirnakis SM.

eNeuro. 2018 Aug 10;5(3). pii: ENEURO.0056-17.2018. doi: 10.1523/ENEURO.0056-17.2018. eCollection 2018 May-Jun.

2.

Apparent bias toward long gene misregulation in MeCP2 syndromes disappears after controlling for baseline variations.

Raman AT, Pohodich AE, Wan YW, Yalamanchili HK, Lowry WE, Zoghbi HY, Liu Z.

Nat Commun. 2018 Aug 13;9(1):3225. doi: 10.1038/s41467-018-05627-1.

3.

Mouse models as a tool for discovering new neurological diseases.

Tan Q, Zoghbi HY.

Neurobiol Learn Mem. 2018 Jul 17. pii: S1074-7427(18)30166-7. doi: 10.1016/j.nlm.2018.07.006. [Epub ahead of print]

PMID:
30030131
4.

Impaired spatial memory codes in a mouse model of Rett syndrome.

Kee SE, Mou X, Zoghbi HY, Ji D.

Elife. 2018 Jul 20;7. pii: e31451. doi: 10.7554/eLife.31451.

5.

Loss of Atoh1 from neurons regulating hypoxic and hypercapnic chemoresponses causes neonatal respiratory failure in mice.

van der Heijden ME, Zoghbi HY.

Elife. 2018 Jul 4;7. pii: e38455. doi: 10.7554/eLife.38455.

6.

Depleting Trim28 in adult mice is well tolerated and reduces levels of α-synuclein and tau.

Rousseaux MW, Revelli JP, Vázquez-Vélez GE, Kim JY, Craigen E, Gonzales K, Beckinghausen J, Zoghbi HY.

Elife. 2018 Jun 4;7. pii: e36768. doi: 10.7554/eLife.36768.

7.

PAK1 regulates ATXN1 levels providing an opportunity to modify its toxicity in spinocerebellar ataxia type 1.

Bondar VV, Adamski CJ, Onur TS, Tan Q, Wang L, Diaz-Garcia J, Park J, Orr HT, Botas J, Zoghbi HY.

Hum Mol Genet. 2018 Aug 15;27(16):2863-2873. doi: 10.1093/hmg/ddy200.

PMID:
29860311
8.

Genome-wide distribution of linker histone H1.0 is independent of MeCP2.

Ito-Ishida A, Yamalanchili HK, Shao Y, Baker SA, Heckman LD, Lavery LA, Kim JY, Lombardi LM, Sun Y, Liu Z, Zoghbi HY.

Nat Neurosci. 2018 Jun;21(6):794-798. doi: 10.1038/s41593-018-0155-8. Epub 2018 May 25.

PMID:
29802390
9.

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

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.

Neurobiol Dis. 2018 Aug;116:93-105. doi: 10.1016/j.nbd.2018.05.002. Epub 2018 May 11.

10.

Forniceal deep brain stimulation induces gene expression and splicing changes that promote neurogenesis and plasticity.

Pohodich AE, Yalamanchili H, Raman AT, Wan YW, Gundry M, Hao S, Jin H, Tang J, Liu Z, Zoghbi HY.

Elife. 2018 Mar 23;7. pii: e34031. doi: 10.7554/eLife.34031.

11.

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

Rousseaux MWC, Tschumperlin T, Lu HC, Lackey EP, Bondar VV, Wan YW, Tan Q, Adamski CJ, Friedrich J, Twaroski K, Chen W, Tolar J, Henzler C, Sharma A, Bajić A, Lin T, Duvick L, Liu Z, Sillitoe RV, Zoghbi HY, Orr HT.

Neuron. 2018 Mar 21;97(6):1235-1243.e5. doi: 10.1016/j.neuron.2018.02.013. Epub 2018 Mar 8.

PMID:
29526553
12.

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.

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 JL Jr, Zoghbi HY.

Cell. 2018 Feb 22;172(5):924-936.e11. doi: 10.1016/j.cell.2018.02.006.

PMID:
29474920
13.

Motor neuron degeneration correlates with respiratory dysfunction in SCA1.

Orengo JP, van der Heijden ME, Hao S, Tang J, Orr HT, Zoghbi HY.

Dis Model Mech. 2018 Feb 26;11(2). pii: dmm032623. doi: 10.1242/dmm.032623.

14.

Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome.

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, Schaaf CP.

Am J Hum Genet. 2018 Feb 1;102(2):296-308. doi: 10.1016/j.ajhg.2018.01.005.

15.

Loss of Capicua alters early T cell development and predisposes mice to T cell lymphoblastic leukemia/lymphoma.

Tan Q, Brunetti L, Rousseaux MWC, Lu HC, Wan YW, Revelli JP, Liu Z, Goodell MA, Zoghbi HY.

Proc Natl Acad Sci U S A. 2018 Feb 13;115(7):E1511-E1519. doi: 10.1073/pnas.1716452115. Epub 2018 Jan 30.

16.

Jak2-mediated phosphorylation of Atoh1 is critical for medulloblastoma growth.

Klisch TJ, Vainshtein A, Patel AJ, Zoghbi HY.

Elife. 2017 Nov 23;6. pii: e31181. doi: 10.7554/eLife.31181.

17.

An RNA interference screen identifies druggable regulators of MeCP2 stability.

Lombardi LM, Zaghlula M, Sztainberg Y, Baker SA, Klisch TJ, Tang AA, Huang EJ, Zoghbi HY.

Sci Transl Med. 2017 Aug 23;9(404). pii: eaaf7588. doi: 10.1126/scitranslmed.aaf7588.

18.

An Atoh1-S193A Phospho-Mutant Allele Causes Hearing Deficits and Motor Impairment.

Xie WR, Jen HI, Seymour ML, Yeh SY, Pereira FA, Groves AK, Klisch TJ, Zoghbi HY.

J Neurosci. 2017 Sep 6;37(36):8583-8594. doi: 10.1523/JNEUROSCI.0295-17.2017. Epub 2017 Jul 20.

19.

CRISPRcloud: a secure cloud-based pipeline for CRISPR pooled screen deconvolution.

Jeong HH, Kim SY, Rousseaux MWC, Zoghbi HY, Liu Z.

Bioinformatics. 2017 Sep 15;33(18):2963-2965. doi: 10.1093/bioinformatics/btx335.

PMID:
28541456
20.

Solving the puzzle of neurological diseases: an interview with Huda Zoghbi.

Zoghbi HY.

Dis Model Mech. 2017 May 1;10(5):503-507. doi: 10.1242/dmm.029751.

21.

Respiratory Network Stability and Modulatory Response to Substance P Require Nalcn.

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.

Neuron. 2017 Apr 19;94(2):294-303.e4. doi: 10.1016/j.neuron.2017.03.024. Epub 2017 Apr 6.

22.

Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.

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.

Nat Genet. 2017 Apr;49(4):527-536. doi: 10.1038/ng.3808. Epub 2017 Mar 13.

23.

An Anatomically Resolved Mouse Brain Proteome Reveals Parkinson Disease-relevant Pathways.

Jung SY, Choi JM, Rousseaux MW, Malovannaya A, Kim JJ, Kutzera J, Wang Y, Huang Y, Zhu W, Maity S, Zoghbi HY, Qin J.

Mol Cell Proteomics. 2017 Apr;16(4):581-593. doi: 10.1074/mcp.M116.061440. Epub 2017 Feb 2.

24.

Extensive cryptic splicing upon loss of RBM17 and TDP43 in neurodegeneration models.

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.

Hum Mol Genet. 2016 Dec 1;25(23):5083-5093. doi: 10.1093/hmg/ddw337.

25.

The Chromatin Modifier MSK1/2 Suppresses Endocrine Cell Fates during Mouse Pancreatic Development.

Bhat N, Park J, Zoghbi HY, Arthur JS, Zaret KS.

PLoS One. 2016 Dec 14;11(12):e0166703. doi: 10.1371/journal.pone.0166703. eCollection 2016.

26.

Neurodegeneration: From cellular concepts to clinical applications.

Katsnelson A, De Strooper B, Zoghbi HY.

Sci Transl Med. 2016 Nov 9;8(364):364ps18. Review. No abstract available.

PMID:
27831899
27.

Lessons learned from studying syndromic autism spectrum disorders.

Sztainberg Y, Zoghbi HY.

Nat Neurosci. 2016 Oct 26;19(11):1408-1417. doi: 10.1038/nn.4420. Review.

PMID:
27786181
28.

TRIM28 regulates the nuclear accumulation and toxicity of both alpha-synuclein and tau.

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.

Elife. 2016 Oct 25;5. pii: e19809. doi: 10.7554/eLife.19809.

29.

Reduction of Nuak1 Decreases Tau and Reverses Phenotypes in a Tauopathy Mouse Model.

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.

Neuron. 2016 Oct 19;92(2):407-418. doi: 10.1016/j.neuron.2016.09.022. Epub 2016 Oct 6.

30.

Rett Syndrome and the Ongoing Legacy of Close Clinical Observation.

Zoghbi HY.

Cell. 2016 Oct 6;167(2):293-297. doi: 10.1016/j.cell.2016.09.039.

31.

Loss and Gain of MeCP2 Cause Similar Hippocampal Circuit Dysfunction that Is Rescued by Deep Brain Stimulation in a Rett Syndrome Mouse Model.

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.

Neuron. 2016 Aug 17;91(4):739-747. doi: 10.1016/j.neuron.2016.07.018. Epub 2016 Aug 4.

32.

Manipulations of MeCP2 in glutamatergic neurons highlight their contributions to Rett and other neurological disorders.

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.

Elife. 2016 Jun 21;5. pii: e14199. doi: 10.7554/eLife.14199.

33.

Restoration of Mecp2 expression in GABAergic neurons is sufficient to rescue multiple disease features in a mouse model of Rett syndrome.

Ure K, Lu H, Wang W, Ito-Ishida A, Wu Z, He LJ, Sztainberg Y, Chen W, Tang J, Zoghbi HY.

Elife. 2016 Jun 21;5. pii: e14198. doi: 10.7554/eLife.14198.

34.

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

Ingram M, Wozniak EAL, Duvick L, Yang R, Bergmann P, Carson R, O'Callaghan B, Zoghbi HY, Henzler C, Orr HT.

Neuron. 2016 Mar 16;89(6):1194-1207. doi: 10.1016/j.neuron.2016.02.011. Epub 2016 Mar 3.

35.

Epigenetics and Human Disease.

Zoghbi HY, Beaudet AL.

Cold Spring Harb Perspect Biol. 2016 Feb 1;8(2):a019497. doi: 10.1101/cshperspect.a019497. Review.

36.

Post-translational Control of the Temporal Dynamics of Transcription Factor Activity Regulates Neurogenesis.

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.

Cell. 2016 Jan 28;164(3):460-75. doi: 10.1016/j.cell.2015.12.048.

37.

Ataxin-1 oligomers induce local spread of pathology and decreasing them by passive immunization slows Spinocerebellar ataxia type 1 phenotypes.

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.

Elife. 2015 Dec 17;4. pii: e10891. doi: 10.7554/eLife.10891.

38.

Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides.

Sztainberg Y, Chen HM, Swann JW, Hao S, Tang B, Wu Z, Tang J, Wan YW, Liu Z, Rigo F, Zoghbi HY.

Nature. 2015 Dec 3;528(7580):123-6. doi: 10.1038/nature16159. Epub 2015 Nov 25.

39.

Loss of MeCP2 in Parvalbumin-and Somatostatin-Expressing Neurons in Mice Leads to Distinct Rett Syndrome-like Phenotypes.

Ito-Ishida A, Ure K, Chen H, Swann JW, Zoghbi HY.

Neuron. 2015 Nov 18;88(4):651-8. doi: 10.1016/j.neuron.2015.10.029.

40.

Forniceal deep brain stimulation rescues hippocampal memory in Rett syndrome mice.

Hao S, Tang B, Wu Z, Ure K, Sun Y, Tao H, Gao Y, Patel AJ, Curry DJ, Samaco RC, Zoghbi HY, Tang J.

Nature. 2015 Oct 15;526(7573):430-4. doi: 10.1038/nature15694.

41.

NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation.

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.

Elife. 2015 Aug 27;4. doi: 10.7554/eLife.10782.

42.

Karyopherin α 3 and karyopherin α 4 proteins mediate the nuclear import of methyl-CpG binding protein 2.

Baker SA, Lombardi LM, Zoghbi HY.

J Biol Chem. 2015 Sep 11;290(37):22485-93. doi: 10.1074/jbc.M115.658104. Epub 2015 Aug 5.

43.

MECP2 disorders: from the clinic to mice and back.

Lombardi LM, Baker SA, Zoghbi HY.

J Clin Invest. 2015 Aug 3;125(8):2914-23. doi: 10.1172/JCI78167. Epub 2015 Aug 3. Review.

44.

Rett syndrome: disruption of epigenetic control of postnatal neurological functions.

Pohodich AE, Zoghbi HY.

Hum Mol Genet. 2015 Oct 15;24(R1):R10-6. doi: 10.1093/hmg/ddv217. Epub 2015 Jun 9. Review.

45.

A native interactor scaffolds and stabilizes toxic ATAXIN-1 oligomers in SCA1.

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.

Elife. 2015 May 19;4. doi: 10.7554/eLife.07558.

46.

MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome.

Chen L, Chen K, Lavery LA, Baker SA, Shaw CA, Li W, Zoghbi HY.

Proc Natl Acad Sci U S A. 2015 Apr 28;112(17):5509-14. doi: 10.1073/pnas.1505909112. Epub 2015 Apr 13. Erratum in: Proc Natl Acad Sci U S A. 2015 Jun 2;112(22):E2982.

47.

Characterization of the transcriptome of nascent hair cells and identification of direct targets of the Atoh1 transcription factor.

Cai T, Jen HI, Kang H, Klisch TJ, Zoghbi HY, Groves AK.

J Neurosci. 2015 Apr 8;35(14):5870-83. doi: 10.1523/JNEUROSCI.5083-14.2015.

48.

Pumilio1 haploinsufficiency leads to SCA1-like neurodegeneration by increasing wild-type Ataxin1 levels.

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.

Cell. 2015 Mar 12;160(6):1087-98. doi: 10.1016/j.cell.2015.02.012.

49.

Deficiency of Capicua disrupts bile acid homeostasis.

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.

Sci Rep. 2015 Feb 5;5:8272. doi: 10.1038/srep08272.

50.

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. Review. No abstract available.

PMID:
25560048

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