MacDonald ME - Search Results

1

Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis.

Fossale E, Wolf P, Espinola JA, Lubicz-Nawrocka T, Teed AM, Gao H, Rigamonti D, Cattaneo E, MacDonald ME, Cotman SL. Fossale E, et al. Among authors: macdonald me. BMC Neurosci. 2004 Dec 10;5:57. doi: 10.1186/1471-2202-5-57. BMC Neurosci. 2004. PMID: 15588329 Free PMC article.

2

Dominant phenotypes produced by the HD mutation in STHdh(Q111) striatal cells.

Trettel F, Rigamonti D, Hilditch-Maguire P, Wheeler VC, Sharp AH, Persichetti F, Cattaneo E, MacDonald ME. Trettel F, et al. Among authors: macdonald me. Hum Mol Genet. 2000 Nov 22;9(19):2799-809. doi: 10.1093/hmg/9.19.2799. Hum Mol Genet. 2000. PMID: 11092756

3

Loss of huntingtin-mediated BDNF gene transcription in Huntington's disease.

Zuccato C, Ciammola A, Rigamonti D, Leavitt BR, Goffredo D, Conti L, MacDonald ME, Friedlander RM, Silani V, Hayden MR, Timmusk T, Sipione S, Cattaneo E. Zuccato C, et al. Among authors: macdonald me. Science. 2001 Jul 20;293(5529):493-8. doi: 10.1126/science.1059581. Epub 2001 Jun 14. Science. 2001. PMID: 11408619

4

Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse.

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. Gao H, et al. Among authors: macdonald me. Am J Hum Genet. 2002 Feb;70(2):324-35. doi: 10.1086/338190. Epub 2001 Dec 21. Am J Hum Genet. 2002. PMID: 11791207 Free PMC article.

5

Identification of a presymptomatic molecular phenotype in Hdh CAG knock-in mice.

Fossale E, Wheeler VC, Vrbanac V, Lebel LA, Teed A, Mysore JS, Gusella JF, MacDonald ME, Persichetti F. Fossale E, et al. Among authors: macdonald me. Hum Mol Genet. 2002 Sep 15;11(19):2233-41. doi: 10.1093/hmg/11.19.2233. Hum Mol Genet. 2002. PMID: 12217951

6

Cln3(Deltaex7/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth.

Cotman SL, Vrbanac V, Lebel LA, Lee RL, Johnson KA, Donahue LR, Teed AM, Antonellis K, Bronson RT, Lerner TJ, MacDonald ME. Cotman SL, et al. Among authors: macdonald me. Hum Mol Genet. 2002 Oct 15;11(22):2709-21. doi: 10.1093/hmg/11.22.2709. Hum Mol Genet. 2002. PMID: 12374761

7

Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum.

Wheeler VC, Lebel LA, Vrbanac V, Teed A, te Riele H, MacDonald ME. Wheeler VC, et al. Among authors: macdonald me. Hum Mol Genet. 2003 Feb 1;12(3):273-81. doi: 10.1093/hmg/ddg056. Hum Mol Genet. 2003. PMID: 12554681

8

Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice.

Gines S, Seong IS, Fossale E, Ivanova E, Trettel F, Gusella JF, Wheeler VC, Persichetti F, MacDonald ME. Gines S, et al. Among authors: macdonald me. Hum Mol Genet. 2003 Mar 1;12(5):497-508. doi: 10.1093/hmg/ddg046. Hum Mol Genet. 2003. PMID: 12588797

9

Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.

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. Teixeira CA, et al. Among authors: macdonald me. Hum Mutat. 2003 May;21(5):502-8. doi: 10.1002/humu.10207. Hum Mutat. 2003. PMID: 12673792

10

Reversal of a full-length mutant huntingtin neuronal cell phenotype by chemical inhibitors of polyglutamine-mediated aggregation.

Wang J, Gines S, MacDonald ME, Gusella JF. Wang J, et al. Among authors: macdonald me. BMC Neurosci. 2005 Jan 13;6:1. doi: 10.1186/1471-2202-6-1. BMC Neurosci. 2005. PMID: 15649316 Free PMC article.

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