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Items: 1 to 20 of 361

1.

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]

PMID:
30610205
2.

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. [Epub ahead of print]

3.

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.

4.

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.

PMID:
30249792
5.

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.

6.

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.

7.

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
8.

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.

9.

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.

10.

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.

11.

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
12.

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.

13.

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.

14.

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.

15.

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
16.

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
17.

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.

18.

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.

19.

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.

20.

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.

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