MacDonald ME - Search Results

1

Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells.

Cao Y, Staropoli JF, Biswas S, Espinola JA, MacDonald ME, Lee JM, Cotman SL. Cao Y, et al. Among authors: macdonald me. PLoS One. 2011 Feb 17;6(2):e17118. doi: 10.1371/journal.pone.0017118. PLoS One. 2011. PMID: 21359198 Free PMC article.

2

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.

3

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

4

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

5

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.

6

Thalamocortical neuron loss and localized astrocytosis in the Cln3Deltaex7/8 knock-in mouse model of Batten disease.

Pontikis CC, Cotman SL, MacDonald ME, Cooper JD. Pontikis CC, et al. Among authors: macdonald me. Neurobiol Dis. 2005 Dec;20(3):823-36. doi: 10.1016/j.nbd.2005.05.018. Epub 2005 Jul 11. Neurobiol Dis. 2005. PMID: 16006136

7

HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism.

Seong IS, Ivanova E, Lee JM, Choo YS, Fossale E, Anderson M, Gusella JF, Laramie JM, Myers RH, Lesort M, MacDonald ME. Seong IS, et al. Among authors: macdonald me. Hum Mol Genet. 2005 Oct 1;14(19):2871-80. doi: 10.1093/hmg/ddi319. Epub 2005 Aug 22. Hum Mol Genet. 2005. PMID: 16115812

8

Genetic background modifies nuclear mutant huntingtin accumulation and HD CAG repeat instability in Huntington's disease knock-in mice.

Lloret A, Dragileva E, Teed A, Espinola J, Fossale E, Gillis T, Lopez E, Myers RH, MacDonald ME, Wheeler VC. Lloret A, et al. Among authors: macdonald me. Hum Mol Genet. 2006 Jun 15;15(12):2015-24. doi: 10.1093/hmg/ddl125. Epub 2006 May 10. Hum Mol Genet. 2006. PMID: 16687439

9

Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis.

Cao Y, Espinola JA, Fossale E, Massey AC, Cuervo AM, MacDonald ME, Cotman SL. Cao Y, et al. Among authors: macdonald me. J Biol Chem. 2006 Jul 21;281(29):20483-93. doi: 10.1074/jbc.M602180200. Epub 2006 May 19. J Biol Chem. 2006. PMID: 16714284 Free article.

10

Unbiased gene expression analysis implicates the huntingtin polyglutamine tract in extra-mitochondrial energy metabolism.

Lee JM, Ivanova EV, Seong IS, Cashorali T, Kohane I, Gusella JF, MacDonald ME. Lee JM, et al. Among authors: macdonald me. PLoS Genet. 2007 Aug;3(8):e135. doi: 10.1371/journal.pgen.0030135. Epub 2007 Jun 27. PLoS Genet. 2007. PMID: 17708681 Free PMC article.

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