Kinase activity is required for the toxic effects of mutant LRRK2/dardarin

Autor: Elisa Greggio, Shushant Jain, Ann Kingsbury, Rina Bandopadhyay, Patrick Lewis, Alice Kaganovich, Marcel P. van der Brug, Alexandra Beilina, Jeff Blackinton, Kelly Jean Thomas, Rili Ahmad, David W. Miller, Sashi Kesavapany, Andrew Singleton, Andrew Lees, Robert J. Harvey, Kirsten Harvey, Mark R. Cookson

Publikováno v: Neurobiology of Disease, Vol 23, Iss 2, Pp 329-341 (2006)

Mutations in the LRRK2 gene, coding for dardarin, cause dominantly inherited Parkinson's disease (PD). Dardarin is a large protein, and mutations are found throughout the gene including the kinase domain. However, it is not clear if kinase activity i

Externí odkaz: https://doaj.org/article/777b4516861040a8ae155cd740eaa5cd

The carbon source in the culture media modulates the cardiotoxic effects of doxorubicin on human stem cell-derived cardiomyocytes

Autor: Servane Lachize, Carlos A. Obejero-Paz, Shushant Jain, Tiffany Snow, Andrew Bruening-Wright, Peter Hawryluk

Publikováno v: Journal of Pharmacological and Toxicological Methods. 105:106815

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::101dc857bae03531a7a10ecffbd5cf75
https://doi.org/10.1016/j.vascn.2020.106815

The R1441C mutation of LRRK2 disrupts GTP hydrolysis

Autor: Alexandra Beilina, Elisa Greggio, Acacia K. Baker, Patrick A. Lewis, Mark R. Cookson, Shushant Jain

Publikováno v: Biochemical and Biophysical Research Communications. 357:668-671

Mutations in Leucine Rich Repeat Kinase 2 (LRRK2) are the leading genetic cause of Parkinson's disease (PD). LRRK2 is predicted to contain kinase and GTPase enzymatic domains, with recent evidence suggesting that the kinase activity of LRRK2 is centr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::625f2fbab9021e8c57de2b93f9d73248
https://doi.org/10.1016/j.bbrc.2007.04.006

Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1

Autor: Orr Shomroni, Marianna R. Bevova, Peter Heutink, María-Jesús Sobrido, Shu-Bing Qian, Conceição Bettencourt, I. Bakker, Marianna Bugiani, Justo García de Yébenes, Xingqian Zhang, Sasja Heetveld, Raquel Ros, Jose Lopez-Sendon, Shushant Jain, Patrizia Rizzu, Beatriz Quintáns

Publikováno v: Cerebellum, 14(3), 378-81. SPRINGER
Cerebellum, 14(3), 378-381. Springer New York
The Cerebellum 14(3), 378-381 (2015). doi:10.1007/s12311-014-0643-7
Bettencourt, C, Yebenes, J G, Lopez-Sendon, J L, Shomroni, O, Zhang, X Q, Qian, S B, Bakker, I M C, Heetveld, S, Ros, R, Quintans, B, Sobrido, M J, Bevova, M R, Jain, S, Bugiani, M, Heutink, P & Rizzu, P 2015, ' Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1 ', Cerebellum, vol. 14, no. 3, pp. 378-381 . https://doi.org/10.1007/s12311-014-0643-7

Hereditary ataxias are clinically and genetically heterogeneous neurodegenerative disorders. Although many ataxia genes have been identified, about 50 % of cases await the identification of the genetic cause [1]. High-throughput sequencing, namely wh

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b079dc1170073cbab678ec415d02b4a2
https://research.rug.nl/en/publications/2558a28b-f70c-47d1-90e6-5f4bff568bdd

Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data

Autor: L. H. Eunson, Andrew B. Singleton, Kailash P. Bhatia, Nicola Pavese, William P. Gilks, John Lynch, Janice L. Holton, David J. Brooks, Mary B. Davis, Paola Piccini, Shushant Jain, Tamas Revesz, J. R. Vaughan, Patrick M. Abou-Sleiman, Juliet Gayton, Regina Katzenschlager, Graham Lennox, Nicholas W. Wood, Daniel G. Healy, Niall Quinn, David Nicholl, Vaneesha Gibbons, Andrew J. Lees, Sonia Gandhi, Naheed L. Khan, Mary G. Sweeney, M Ganguly

Publikováno v: Brain. 128:2786-2796

We have established that the frequency of LRRK2 mutations in a series of 118 cases of familial Parkinson's disease is 5.1%. In the largest family with autosomal dominant, late-onset Parkinson's disease where affected subjects share a Y1699C missense

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::439d82b6de9b3ef4bebda62a37717d7d
https://doi.org/10.1093/brain/awh667