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Items: 1 to 50 of 353

1.

Doublecortin like kinase 1 regulates α-Synuclein levels and toxicity.

Vázquez-Vélez GE, Gonzales KA, Revelli JP, Adamski CJ, Alavi Naini F, Bajić A, Craigen E, Richman R, Heman-Ackah SM, Wood MJA, Rousseaux MWC, Zoghbi HY.

J Neurosci. 2019 Nov 20. pii: 1076-19. doi: 10.1523/JNEUROSCI.1076-19.2019. [Epub ahead of print]

PMID:
31748376
2.

Strategy to selectively remove mutant proteins could combat neurodegeneration.

Zoghbi HY.

Nature. 2019 Nov;575(7781):57-58. doi: 10.1038/d41586-019-03243-7. No abstract available.

PMID:
31690850
3.

Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity.

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.

Hum Mol Genet. 2019 Oct 10. pii: ddz233. doi: 10.1093/hmg/ddz233. [Epub ahead of print]

PMID:
31600777
4.

Molecular profiling predicts meningioma recurrence and reveals loss of DREAM complex repression in aggressive tumors.

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.

Proc Natl Acad Sci U S A. 2019 Oct 22;116(43):21715-21726. doi: 10.1073/pnas.1912858116. Epub 2019 Oct 7.

PMID:
31591222
5.

Mecp2 Deletion from Cholinergic Neurons Selectively Impairs Recognition Memory and Disrupts Cholinergic Modulation of the Perirhinal Cortex.

Ballinger EC, Schaaf CP, Patel AJ, de Maio A, Tao H, Talmage DA, Zoghbi HY, Role LW.

eNeuro. 2019 Nov 1;6(6). pii: ENEURO.0134-19.2019. doi: 10.1523/ENEURO.0134-19.2019. Print 2019 Nov/Dec.

6.

The distinct methylation landscape of maturing neurons and its role in Rett syndrome pathogenesis.

Lavery LA, Zoghbi HY.

Curr Opin Neurobiol. 2019 Dec;59:180-188. doi: 10.1016/j.conb.2019.08.001. Epub 2019 Sep 19. Review.

PMID:
31542590
7.

Neurexophilin4 is a selectively expressed α-neurexin ligand that modulates specific cerebellar synapses and motor functions.

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.

Elife. 2019 Sep 16;8. pii: e46773. doi: 10.7554/eLife.46773.

8.

Loss of Ataxin-1 Potentiates Alzheimer's Pathogenesis by Elevating Cerebral BACE1 Transcription.

Suh J, Romano DM, Nitschke L, Herrick SP, DiMarzio 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.

Cell. 2019 Aug 22;178(5):1159-1175.e17. doi: 10.1016/j.cell.2019.07.043.

PMID:
31442405
9.

Intellectual and developmental disabilities research centers: Fifty years of scientific accomplishments.

Walkley SU, Abbeduto L, Batshaw ML, Bhattacharyya A, Bookheimer SY, Christian BT, Constantino JN, de Vellis J, Doherty DA, Nelson DL, Piven J, Poduri A, Pomeroy SL, Samaco RC, Zoghbi HY, Guralnick MJ; Intellectual and Developmental Disabilities Research Centers Directors Committee.

Ann Neurol. 2019 Sep;86(3):332-343. doi: 10.1002/ana.25531. Epub 2019 Jul 27. Review.

PMID:
31206741
10.

Beta-binomial modeling of CRISPR pooled screen data identifies target genes with greater sensitivity and fewer false negatives.

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

Genome Res. 2019 Jun;29(6):999-1008. doi: 10.1101/gr.245571.118. Epub 2019 Apr 23.

11.

Cross-species genetic screens to identify kinase targets for APP reduction in Alzheimer's disease.

Huichalaf CH, Al-Ramahi I, Park KW, Grunke SD, Lu N, de Haro M, El-Zein K, Gallego-Flores T, Perez AM, Jung SY, Botas J, Zoghbi HY, Jankowsky JL.

Hum Mol Genet. 2019 Jun 15;28(12):2014-2029. doi: 10.1093/hmg/ddz034.

PMID:
30753434
12.

A kinome-wide RNAi screen identifies ERK2 as a druggable regulator of Shank3 stability.

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.

Mol Psychiatry. 2019 Jan 29. doi: 10.1038/s41380-018-0325-9. [Epub ahead of print]

13.

An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function.

Wang L, Pang K, Han K, Adamski CJ, Wang W, He L, Lai JK, Bondar VV, Duman JG, Richman R, Tolias KF, Barth P, Palzkill T, Liu Z, Holder JL Jr, Zoghbi HY.

Mol Psychiatry. 2019 Jan 4. doi: 10.1038/s41380-018-0324-x. [Epub ahead of print]

14.

Antisense oligonucleotide-mediated ataxin-1 reduction prolongs survival in SCA1 mice and reveals disease-associated transcriptome profiles.

Friedrich J, Kordasiewicz HB, O'Callaghan B, Handler HP, Wagener C, Duvick L, Swayze EE, Rainwater O, Hofstra B, Benneyworth M, Nichols-Meade T, Yang P, Chen Z, Ortiz JP, Clark HB, Öz G, Larson S, Zoghbi HY, Henzler C, Orr HT.

JCI Insight. 2018 Nov 2;3(21). pii: 123193. doi: 10.1172/jci.insight.123193.

15.

RBM17 Interacts with U2SURP and CHERP to Regulate Expression and Splicing of RNA-Processing Proteins.

De Maio A, Yalamanchili HK, Adamski CJ, Gennarino VA, Liu Z, Qin J, Jung SY, Richman R, Orr H, Zoghbi HY.

Cell Rep. 2018 Oct 16;25(3):726-736.e7. doi: 10.1016/j.celrep.2018.09.041.

16.

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

Rousseaux MWC, Vázquez-Vélez GE, Al-Ramahi I, Jeong HH, Bajić 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 J, Zoghbi HY.

J Neurosci. 2018 Oct 24;38(43):9286-9301. doi: 10.1523/JNEUROSCI.0254-18.2018. Epub 2018 Sep 24.

17.

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.

18.

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.

19.

Mouse models as a tool for discovering new neurological diseases.

Tan Q, Zoghbi HY.

Neurobiol Learn Mem. 2019 Nov;165:106902. doi: 10.1016/j.nlm.2018.07.006. Epub 2018 Jul 17.

PMID:
30030131
20.

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.

21.

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.

22.

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.

23.

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.

24.

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.

25.

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.

26.

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.

27.

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.

28.

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.

29.

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.

30.

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.

31.

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.

32.

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.

33.

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.

34.

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.

35.

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.

36.

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.

37.

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.

38.

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.

39.

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.

40.

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.

41.

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.

42.

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
43.

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
44.

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.

45.

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.

46.

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.

47.

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.

48.

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.

49.

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.

50.

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.

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