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Items: 1 to 20 of 35

1.

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.

Nosková L, Stránecký V, Hartmannová H, Přistoupilová A, Barešová V, Ivánek R, Hůlková H, Jahnová H, van der Zee J, Staropoli JF, Sims KB, Tyynelä J, Van Broeckhoven C, Nijssen PC, Mole SE, Elleder M, Kmoch S.

Am J Hum Genet. 2011 Aug 12;89(2):241-52. doi: 10.1016/j.ajhg.2011.07.003. Epub 2011 Aug 4. Erratum in: Am J Hum Genet. 2011 Oct 7;89(4):589.

2.

Chaperoning the SNAREs: a role in preventing neurodegeneration?

Burgoyne RD, Morgan A.

Nat Cell Biol. 2011 Jan;13(1):8-9. doi: 10.1038/ncb0111-8.

PMID:
21173802
3.

CSPα promotes SNARE-complex assembly by chaperoning SNAP-25 during synaptic activity.

Sharma M, Burré J, Südhof TC.

Nat Cell Biol. 2011 Jan;13(1):30-9. doi: 10.1038/ncb2131. Epub 2010 Dec 12. Erratum in: Nat Cell Biol. 2011 Feb;13(2):182.

PMID:
21151134
4.

Synaptic protection in the brain of WldS mice occurs independently of age but is sensitive to gene-dose.

Wright AK, Wishart TM, Ingham CA, Gillingwater TH.

PLoS One. 2010 Nov 29;5(11):e15108. doi: 10.1371/journal.pone.0015108.

5.

Alpha-synuclein promotes SNARE-complex assembly in vivo and in vitro.

Burré J, Sharma M, Tsetsenis T, Buchman V, Etherton MR, Südhof TC.

Science. 2010 Sep 24;329(5999):1663-7. doi: 10.1126/science.1195227. Epub 2010 Aug 26.

6.

SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy.

Wishart TM, Huang JP, Murray LM, Lamont DJ, Mutsaers CA, Ross J, Geldsetzer P, Ansorge O, Talbot K, Parson SH, Gillingwater TH.

Hum Mol Genet. 2010 Nov 1;19(21):4216-28. doi: 10.1093/hmg/ddq340. Epub 2010 Aug 12.

7.

The synaptic pathology of alpha-synuclein aggregation in dementia with Lewy bodies, Parkinson's disease and Parkinson's disease dementia.

Schulz-Schaeffer WJ.

Acta Neuropathol. 2010 Aug;120(2):131-43. doi: 10.1007/s00401-010-0711-0. Epub 2010 Jun 20. Review.

8.

Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans.

Perkins EM, Clarkson YL, Sabatier N, Longhurst DM, Millward CP, Jack J, Toraiwa J, Watanabe M, Rothstein JD, Lyndon AR, Wyllie DJ, Dutia MB, Jackson M.

J Neurosci. 2010 Apr 7;30(14):4857-67. doi: 10.1523/JNEUROSCI.6065-09.2010.

9.

Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease.

Kielar C, Wishart TM, Palmer A, Dihanich S, Wong AM, Macauley SL, Chan CH, Sands MS, Pearce DA, Cooper JD, Gillingwater TH.

Hum Mol Genet. 2009 Nov 1;18(21):4066-80. doi: 10.1093/hmg/ddp355. Epub 2009 Jul 29.

10.

A critical role of Rho-kinase ROCK2 in the regulation of spine and synaptic function.

Zhou Z, Meng Y, Asrar S, Todorovski Z, Jia Z.

Neuropharmacology. 2009 Jan;56(1):81-9. doi: 10.1016/j.neuropharm.2008.07.031. Epub 2008 Aug 5.

PMID:
18718479
11.

Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy.

Murray LM, Comley LH, Thomson D, Parkinson N, Talbot K, Gillingwater TH.

Hum Mol Genet. 2008 Apr 1;17(7):949-62. Epub 2007 Dec 8.

PMID:
18065780
12.

Differential proteomics analysis of synaptic proteins identifies potential cellular targets and protein mediators of synaptic neuroprotection conferred by the slow Wallerian degeneration (Wlds) gene.

Wishart TM, Paterson JM, Short DM, Meredith S, Robertson KA, Sutherland C, Cousin MA, Dutia MB, Gillingwater TH.

Mol Cell Proteomics. 2007 Aug;6(8):1318-30. Epub 2007 Apr 29.

13.

Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration.

Loupatty FJ, Clayton PT, Ruiter JP, Ofman R, Ijlst L, Brown GK, Thorburn DR, Harris RA, Duran M, Desousa C, Krywawych S, Heales SJ, Wanders RJ.

Am J Hum Genet. 2007 Jan;80(1):195-9. Epub 2006 Nov 30.

14.

Synaptic vulnerability in neurodegenerative disease.

Wishart TM, Parson SH, Gillingwater TH.

J Neuropathol Exp Neurol. 2006 Aug;65(8):733-9. Review.

PMID:
16896307
15.

The Drosophila cell corpse engulfment receptor Draper mediates glial clearance of severed axons.

MacDonald JM, Beach MG, Porpiglia E, Sheehan AE, Watts RJ, Freeman MR.

Neuron. 2006 Jun 15;50(6):869-81.

16.

Delayed synaptic degeneration in the CNS of Wlds mice after cortical lesion.

Gillingwater TH, Ingham CA, Parry KE, Wright AK, Haley JE, Wishart TM, Arbuthnott GW, Ribchester RR.

Brain. 2006 Jun;129(Pt 6):1546-56.

PMID:
16738060
17.

CSPalpha-deficiency causes massive and rapid photoreceptor degeneration.

Schmitz F, Tabares L, Khimich D, Strenzke N, de la Villa-Polo P, Castellano-Muñoz M, Bulankina A, Moser T, Fernández-Chacón R, Südhof TC.

Proc Natl Acad Sci U S A. 2006 Feb 21;103(8):2926-31. Epub 2006 Feb 13.

18.

Alpha-synuclein cooperates with CSPalpha in preventing neurodegeneration.

Chandra S, Gallardo G, Fernández-Chacón R, Schlüter OM, Südhof TC.

Cell. 2005 Nov 4;123(3):383-96.

19.

Structure of an auxilin-bound clathrin coat and its implications for the mechanism of uncoating.

Fotin A, Cheng Y, Grigorieff N, Walz T, Harrison SC, Kirchhausen T.

Nature. 2004 Dec 2;432(7017):649-53. Epub 2004 Oct 24.

PMID:
15502813
20.

A focus on the synapse for neuroprotection in Alzheimer disease and other dementias.

Coleman P, Federoff H, Kurlan R.

Neurology. 2004 Oct 12;63(7):1155-62. Review.

PMID:
15477531

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