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Huntington’s disease
MacDonald ME, Lin C, Srinidhi L, Bates G, Altherr M, Whaley WL, Lehrach H, Wasmuth J, Gusella JF. Complex patterns of linkage disequilibrium in the Huntington disease region. Am J Hum Genet. 1991;49(4):723-34.
MacDonald ME, Novelletto A, Lin C, Tagle D, Barnes G, Bates G, Taylor S, Allitto B, Altherr M, Myers R, Lehrach H, Collins FS, Wasmuth JJ, Frontali M, Gusella JF . The Huntington's disease candidate region exhibits many different haplotypes. Nat Genet. 1992;1(2):99-103.
The Huntington's Disease Collaborative Research Group: Group 1; MacDonald ME, Ambrose CM, Duyao MP, Myers RH, Lin C, Srinidhi H, Barnes G, Taylor SAM, James M, Groot N, MacFarlane H, Jenkins B, Anderson MA, Wexler NS, Gusella JF. Group 2; Bates GP, Baxendale S, Hummerich H, Kirby S, North M, Youngman S, Mott R, Zehetner G, Sedlacek Z, Poustka A, Frischauf AM, Lehrach H. Group 3. Buckler AJ, Church D, Doucette-Stamm L, O'Donovan MC, Riba-Ramirez L, Shah M, Stanton VP, Strobel SA, Draths KM, Wales JL, Dervan P, Housman DE. Group 4; Altherr M, Shiang R, Thompson L, Fielder T, Wasmuth JJ. Group 5; Tagle D, Valdes J, Elmer L, Allard M, Castilla L, Swaroop M, Blanchard K, Collins FS. Group 6; Snell R, Holloway T, Gillespie K, Datson N, Shaw D, Harper PS. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell. 1993;72:971-983.
Duyao MP, Auerbach A, Ryan A, Persichetti F, Barnes GT, McNeil SM, Ge P, Vonsattel J-P, Gusella JF, Joyner AL, MacDonald ME. Inactivation of the mouse Huntington's disease gene homolog Hdh. Science. 1995;265:407-410.
White JK, Auerbach W, Duyao MP, Vonsattel JP, Gusella JF, Joyner AL, MacDonald ME. Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion. Nat Genet. 1997;17(4):404-10.
Hilditch-Maguire P, Trettel F, Passani LA, Auerbach A, Persichetti F, MacDonald ME. Huntingtin: an iron-regulated protein essential for normal nuclear and perinuclear organelles. Hum Mol Genet. 2000;9(19):2789-97.
Wheeler VC, Gutekunst CA, Vrbanac V, Lebel LA, Schilling G, Hersch S, Friedlander RM, Gusella JF, Vonsattel JP, Borchelt DR, MacDonald ME. Early phenotypes that presage late-onset neurodegenerative disease allow testing of modifiers in Hdh CAG knock-in mice. Hum Mol Genet. 2002;11(6):633-40.
Wheeler VC, Lebel LA, Vrbanac V, Teed A, te Riele H, MacDonald ME. Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum. Hum Mol Genet. 2003;12(3):273-81.
Gines S, Seong IS, Fossale E, Ivanova E, Trettel F, Gusella JF, Wheeler VC, Persichetti F, MacDonald ME. Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice. Hum Mol Genet. 2003;12(5):497-508.
Gines S, Ivanova E, Seong IS, Saura CA, MacDonald ME. Enhanced Akt signaling is an early pro-survival response that reflects N-methyl-D-aspartate receptor activation in Huntington's disease knock-in striatal cells. J Biol Chem. 2003;278(50):50514-22.
Li JL, Hayden MR, Almqvist EW, Brinkman RR, Durr A, Dodé C, Morrison PJ, Suchowersky O, Ross CA, Margolis RL, Rosenblatt A, Gómez-Tortosa E, Cabrero DM, Novelletto A, Frontali M, Nance M, Trent RJ, McCusker E, Jones R, Paulsen JS, Harrison M, Zanko A, Abramson RK, Russ AL, Knowlton B, Djoussé L, Mysore JS, Tariot S, Gusella MF, Wheeler VC, Atwood LD, Cupples LA, Saint-Hilaire M, Cha JH, Hersch SM, Koroshetz WJ, Gusella JF, MacDonald ME, Myers RH. A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study. Am J Hum Genet. 2003;73(3):682-7.
Seong IS, Ivanova E, Lee JM, Choo YS, Fossale E, Anderson M, Gusella JF, Laramie JM, Myers RH, Lesort M, MacDonald ME. The HD CAG Repeat Implicates a Dominant Property of Huntingtin in Mitochondrial Energy Metabolism. Hum Mol Genet. 2005; 14(19):2871-80.
Woda JM, Calzonetti T, Hilditch-Maguire P, Duyao MP, Conlon RA, MacDonald ME. Inactivation of the Huntington's disease gene (Hdh) impairs anterior streak formation and early patterning of the mouse embryo. BMC Dev Biol. 2005; 5(1):17
Neuronal Ceroid Lipofuscinosis
Gao H, Boustany RM, Espinola JA, Cotman SL, Srinidhi L, Antonellis KA, Gillis T, Qin X, Liu S, Donahue LR, Bronson RT, Faust JR, Stout D, Haines JL, Lerner TJ, MacDonald ME. Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. Am J Hum Genet. 2002;70(2):324-35.
Cotman SL, Vrbanac V, Lebel LA, Lee RL, Johnson KA, Donahue LR, Teed AM, Antonellis K, Bronson RT, Lerner TJ, MacDonald ME. Cln3(Deltaex7/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth. Hum Mol Genet. 2002;11(22):2709-21.
Teixeira CA, Espinola J, Huo L, Kohlschütter J, Persaud Sawin DA, Minassian B, Bessa CJ, Guimarães A, Stephan DA, Sá Miranda MC, MacDonald ME, Ribeiro MG, Boustany RM. Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis. Hum Mutat. 2003;21(5):502-8.
Korey CA, MacDonald ME. An over-expression system for characterizing Ppt1 function in Drosophila. BMC Neurosci. 2003;4(1):30.
Fossale E, Wolf P, Espinola JA, Lubicz-Nawrocka T, Teed AM, Gao H, Rigamonti D, Cattaneo E, MacDonald ME, Cotman SL. Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis. BMC Neurosci. 2004;5(1):57.
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