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Intellectual and Developmental Disabilities Research Center

Houston, Texas

Intellectual and Developmental Disabilities Research Center
Intellectual and Developmental Disabilities Research Center
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2008 Publications

  1. Allen EG, Juncos J, Letz R, Rusin M, Hamilton D, Novak G, Shubeck L, Tinker SW, Sherman SL. Detection of early FXTAS motor symptoms using the CATSYS computerised neuromotor test battery. J Med Genet. 2008 May; 45(5): 290-7.
  2. Bassell GJ, Warren ST. Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function. Neuron. 2008 Oct 23; 60(2): 201-14.
  3. 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.
  4. Chang S, Bray SM, Li Z, Zarnescu DC, He C, Jin P, Warren ST. Identification of small molecules rescuing fragile X syndrome phenotypes in Drosophila. Nat Chem Biol. 2008 Apr; 4(4): 256-63.
  5. Coffee B, Ikeda M, Budimirovic DB, Hjelm LN, Kaufmann WE, Warren ST. Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature. Am J Med Genet A. 2008 May 15; 146A(10): 1358-67.
  6. 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.
  7. Curtis LB, Doneske B, Liu X, Thaller C, McNew JA, Janz R. Syntaxin 3b is a t-SNARE specific for ribbon synapses of the retina. J Comp Neurol. 2008 Oct 10; 510(5): 550-9.
  8. de Vrij FM, Levenga J, van der Linde HC, Koekkoek SK, De Zeeuw CI, Nelson DL, Oostra BA, Willemsen R. Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice. Neurobiol Dis. 2008 Jul; 31(1): 127-32.
  9. Deguchi K, Clewing JM, Elizondo LI, Hirano R, Huang C, Choi K, Sloan EA, Lücke T, Marwedel KM, Powell RD Jr, Santa Cruz K, Willaime-Morawek S, Inoue K, Lou S, Northrop JL, Kanemura Y, van der Kooy D, Okano H, Armstrong DL, Boerkoel CF. Neurologic phenotype of Schimke immuno-osseous dysplasia and neurodevelopmental expression of SMARCAL1. J Neuropathol Exp Neurol. 2008 Jun; 67(6): 565-77.
  10. Dindot SV, Antalffy BA, Bhattacharjee MB, Beaudet AL. The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology. Hum Mol Genet. 2008 Jan 1; 17(1): 111-8.
  11. 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.
  12. 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.
  13. Hoeffer CA, Tang W, Wong H, Santillan A, Patterson RJ, Martinez LA, Tejada-Simon MV, Paylor R, Hamilton SL, Klann E. Removal of FKBP12 enhances mTOR-Raptor interactions, LTP, memory, and perseverative/repetitive behavior. Neuron. 2008 Dec 10; 60(5): 832-45.
  14. Hopkins B, Sutton VR, Lewis RA, Van den Veyver I, Clark G. Neuroimaging aspects of Aicardi syndrome. Am J Med Genet A. 2008 Nov 15; 146A(22): 2871-8.
  15. Jin W, Liu H, Zhang Y, Otta SK, Plon SE, Wang LL. Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents. Hum Genet. 2008 Jul; 123(6): 643-53.
  16. Kou YC, Shao L, Peng HH, Rosetta R, del Gaudio D, Wagner AF, Al-Hussaini TK, Van den Veyver IB. A recurrent intragenic genomic duplication, other novel mutations in NLRP7 and imprinting defects in recurrent biparental hydatidiform moles. Mol Hum Reprod. 2008 Jan; 14(1): 33-40.
  17. Lauckner JE, Jensen JB, Chen HY, Lu HC, Hille B, Mackie K. GPR55 is a cannabinoid receptor that increases intracellular calcium and inhibits M current. Proc Natl Acad Sci U S A. 2008 Feb 19; 105(7): 2699-704.
  18. Lee S, Lee B, Joshi K, Pfaff SL, Lee JW, Lee SK. A regulatory network to segregate the identity of neuronal subtypes. Dev Cell. 2008 Jun; 14(6): 877-89.
  19. 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.
  20. 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.
  21. Lu XY, Phung MT, Shaw CA, Pham K, Neil SE, Patel A, Sahoo T, Bacino CA, Stankiewicz P, Kang SH, Lalani S, Chinault AC, Lupski JR, Cheung SW, Beaudet AL. Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics. 2008 Dec; 122(6): 1310-8.
  22. Mehollin-Ray AR, Kozinetz CA, Schlesinger AE, Guillerman RP, Wang LL. Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status. AJR Am J Roentgenol. 2008 Aug; 191(2): W62-6.
  23. Narayanan U, Nalavadi V, Nakamoto M, Thomas G, Ceman S, Bassell GJ, Warren ST. S6K1 phosphorylates and regulates fragile X mental retardation protein (FMRP) with the neuronal protein synthesis-dependent mammalian target of rapamycin (mTOR) signaling cascade. J Biol Chem. 2008 Jul 4; 283(27): 18478-82.
  24. Sahoo T, del Gaudio D, German JR, Shinawi M, Peters SU, Person RE, Garnica A, Cheung SW, Beaudet AL. Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat Genet. 2008 Jun; 40(6): 719-21.
  25. 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.
  26. Singh NA, Otto JF, Dahle EJ, Pappas C, Leslie JD, Vilaythong A, Noebels JL, White HS, Wilcox KS, Leppert MF. Mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions show seizures and neuronal plasticity without synaptic reorganization. J Physiol. 2008 Jul 15; 586(14): 3405-23.
  27. Sofola O, Sundram V, Ng F, Kleyner Y, Morales J, Botas J, Jackson FR, Nelson DL. The Drosophila FMRP and LARK RNA-binding proteins function together to regulate eye development and circadian behavior. J Neurosci. 2008 Oct 8; 28(41): 10200-5.
  28. Zhang J, Fang Z, Jud C, Vansteensel MJ, Kaasik K, Lee CC, Albrecht U, Tamanini F, Meijer JH, Oostra BA, Nelson DL. Fragile X-related proteins regulate mammalian circadian behavioral rhythms. Am J Hum Genet. 2008 Jul; 83(1): 43-52.
  29. Zhang Y, Burgess D, Overbeek PA, Govindarajan V. Dominant inhibition of lens placode formation in mice. Dev Biol. 2008 Nov 1; 323(1): 53-63.

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