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Items: 1 to 20 of 25

1.

Emerging mechanisms of molecular pathology in ALS.

Peters OM, Ghasemi M, Brown RH Jr.

J Clin Invest. 2015 May;125(5):1767-79. doi: 10.1172/JCI71601. Epub 2015 May 1. Review. Erratum in: J Clin Invest. 2015 Jun;125(6):2548.

2.

Rapamycin and chloroquine: the in vitro and in vivo effects of autophagy-modifying drugs show promising results in valosin containing protein multisystem proteinopathy.

Nalbandian A, Llewellyn KJ, Nguyen C, Yazdi PG, Kimonis VE.

PLoS One. 2015 Apr 17;10(4):e0122888. doi: 10.1371/journal.pone.0122888. eCollection 2015.

3.

A network of RNA and protein interactions in Fronto Temporal Dementia.

Fontana F, Siva K, Denti MA.

Front Mol Neurosci. 2015 Mar 19;8:9. doi: 10.3389/fnmol.2015.00009. eCollection 2015. Review.

4.

Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine.

Irwin DJ, Cairns NJ, Grossman M, McMillan CT, Lee EB, Van Deerlin VM, Lee VM, Trojanowski JQ.

Acta Neuropathol. 2015 Apr;129(4):469-91. doi: 10.1007/s00401-014-1380-1. Epub 2014 Dec 31.

5.

Targeted excision of VCP R155H mutation by Cre-LoxP technology as a promising therapeutic strategy for valosin-containing protein disease.

Nalbandian A, Llewellyn KJ, Nguyen C, Monuki ES, Kimonis VE.

Hum Gene Ther Methods. 2015 Feb;26(1):13-24. doi: 10.1089/hgtb.2014.096.

6.

Global gene expression profiling in R155H knock-in murine model of VCP disease.

Nalbandian A, Ghimbovschi S, Wang Z, Knoblach S, Llewellyn KJ, Vesa J, Hoffman EP, Kimonis VE.

Clin Transl Sci. 2015 Feb;8(1):8-16. doi: 10.1111/cts.12241. Epub 2014 Nov 12.

7.

Cdc48: a swiss army knife of cell biology.

Baek GH, Cheng H, Choe V, Bao X, Shao J, Luo S, Rao H.

J Amino Acids. 2013;2013:183421. doi: 10.1155/2013/183421. Epub 2013 Sep 15. Review.

8.

Exercise training reverses skeletal muscle atrophy in an experimental model of VCP disease.

Nalbandian A, Nguyen C, Katheria V, Llewellyn KJ, Badadani M, Caiozzo V, Kimonis VE.

PLoS One. 2013 Oct 9;8(10):e76187. doi: 10.1371/journal.pone.0076187. eCollection 2013.

9.

Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis.

Ling SC, Polymenidou M, Cleveland DW.

Neuron. 2013 Aug 7;79(3):416-38. doi: 10.1016/j.neuron.2013.07.033. Review.

10.

Perturbations to the ubiquitin conjugate proteome in yeast δubx mutants identify Ubx2 as a regulator of membrane lipid composition.

Kolawa N, Sweredoski MJ, Graham RL, Oania R, Hess S, Deshaies RJ.

Mol Cell Proteomics. 2013 Oct;12(10):2791-803. doi: 10.1074/mcp.M113.030163. Epub 2013 Jun 22.

11.

Mouse models of frontotemporal dementia.

Roberson ED.

Ann Neurol. 2012 Dec;72(6):837-49. doi: 10.1002/ana.23722. Review.

12.

Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis.

González-Pérez P, Cirulli ET, Drory VE, Dabby R, Nisipeanu P, Carasso RL, Sadeh M, Fox A, Festoff BW, Sapp PC, McKenna-Yasek D, Goldstein DB, Brown RH Jr, Blumen SC.

Neurology. 2012 Nov 27;79(22):2201-8. doi: 10.1212/WNL.0b013e318275963b. Epub 2012 Nov 14.

13.

The homozygote VCP(R¹⁵⁵H/R¹⁵⁵H) mouse model exhibits accelerated human VCP-associated disease pathology.

Nalbandian A, Llewellyn KJ, Kitazawa M, Yin HZ, Badadani M, Khanlou N, Edwards R, Nguyen C, Mukherjee J, Mozaffar T, Watts G, Weiss J, Kimonis VE.

PLoS One. 2012;7(9):e46308. doi: 10.1371/journal.pone.0046308. Epub 2012 Sep 28.

14.

Paget's Disease of Bone: A Review of Epidemiology, Pathophysiology and Management.

Shaker JL.

Ther Adv Musculoskelet Dis. 2009 Apr;1(2):107-25. doi: 10.1177/1759720X09351779.

15.

Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis.

Abramzon Y, Johnson JO, Scholz SW, Taylor JP, Brunetti M, Calvo A, Mandrioli J, Benatar M, Mora G, Restagno G, Chiò A, Traynor BJ.

Neurobiol Aging. 2012 Sep;33(9):2231.e1-2231.e6. doi: 10.1016/j.neurobiolaging.2012.04.005. Epub 2012 May 8.

16.

Membrane orientation and subcellular localization of transmembrane protein 106B (TMEM106B), a major risk factor for frontotemporal lobar degeneration.

Lang CM, Fellerer K, Schwenk BM, Kuhn PH, Kremmer E, Edbauer D, Capell A, Haass C.

J Biol Chem. 2012 Jun 1;287(23):19355-65. doi: 10.1074/jbc.M112.365098. Epub 2012 Apr 17.

17.

The role of the N-domain in the ATPase activity of the mammalian AAA ATPase p97/VCP.

Niwa H, Ewens CA, Tsang C, Yeung HO, Zhang X, Freemont PS.

J Biol Chem. 2012 Mar 9;287(11):8561-70. doi: 10.1074/jbc.M111.302778. Epub 2012 Jan 23.

19.

VCP associated inclusion body myopathy and paget disease of bone knock-in mouse model exhibits tissue pathology typical of human disease.

Badadani M, Nalbandian A, Watts GD, Vesa J, Kitazawa M, Su H, Tanaja J, Dec E, Wallace DC, Mukherjee J, Caiozzo V, Warman M, Kimonis VE.

PLoS One. 2010 Oct 5;5(10). pii: e13183. doi: 10.1371/journal.pone.0013183.

20.

A novel ATP-dependent conformation in p97 N-D1 fragment revealed by crystal structures of disease-related mutants.

Tang WK, Li D, Li CC, Esser L, Dai R, Guo L, Xia D.

EMBO J. 2010 Jul 7;29(13):2217-29. doi: 10.1038/emboj.2010.104. Epub 2010 May 28.

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