Click on one of these terms to refine your search
1 to 10 of 21 literature results
The widespread use of elite sires by means of artificial insemination in livestock breeding leads to the frequent emergence of recessive genetic defec…
Authors: Carole Charlier, Wouter Coppieters, Frédéric Rollin, Daniel Desmecht, Jorgen S Agerholm, Nadine Cambisano, Eloisa Carta, Sabrina Dardano, Marc Dive, Corinne Fasquelle,…
Source: Nature genetics. 2008 Apr
View Full TextIn mice, targeted deletion of the serine protease HtrA2 (also known as Omi) causes mitochondrial dysfunction leading to a neurodegenerative disorder w…
Authors: Hélène Plun-Favreau, Kristina Klupsch, Nicoleta Moisoi, Sonia Gandhi, Svend Kjaer, David Frith, Kirsten Harvey, Emma Deas, Robert J Harvey, Neil McDonald,…
Source: Nature cell biology. 2007 Nov
View Full TextHyperekplexia is a human neurological disorder characterized by an excessive startle response and is typically caused by missense and nonsense mutatio…
Authors: Mark I Rees, Kirsten Harvey, Brian R Pearce, Seo-Kyung Chung, Ian C Duguid, Philip Thomas, Sarah Beatty, Gail E Graham, Linlea Armstrong, Rita Shiang,…
Source: Nature genetics. 2006 Jul
View Full TextIn the mammalian CNS, each neuron typically receives thousands of synaptic inputs from diverse classes of neurons. Synaptic transmission to the postsy…
Authors: Alexandros Poulopoulos, Gayane Aramuni, Guido Meyer, Tolga Soykan, Mrinalini Hoon, Theofilos Papadopoulos, Mingyue Zhang, Ingo Paarmann, Céline Fuchs, Kirsten Harvey,…
Source: Neuron. 2009 Sep 10
View Full TextMutations in PARK8, encoding LRRK2, are the most common known cause of Parkinson's disease. The LRRK2 Roc-COR tandem domain exhibits GTPase activity c…
Authors: Rosa M Sancho, Bernard M H Law, Kirsten Harvey
Source: Human molecular genetics. 2009 Oct 15
View Full TextClustering of inhibitory gamma-aminobutyric acid(A) (GABA(A)) and glycine receptors at synapses is thought to involve key interactions between the rec…
Authors: Vera M Kalscheuer, Luciana Musante, Cheng Fang, Kirsten Hoffmann, Celine Fuchs, Eloisa Carta, Emma Deas, Kanamarlapudi Venkateswarlu, Corinna Menzel, Reinhard Ullmann,…
Source: Human mutation. 2009 Jan
View Full TextOBJECTIVE: To investigate the significance of PINK1 mutations in sporadic Parkinson's disease (PD). METHODS: We determined the frequency of PINK1 muta…
Authors: Patrick M Abou-Sleiman, Miratul M K Muqit, Neil Q McDonald, Yan Xiang Yang, Sonia Gandhi, Daniel G Healy, Kirsten Harvey, Robert J Harvey, Emma Deas, Kailash Bhatia,…
Source: Annals of neurology. 2006 Oct
View Full TextMutations in the LRRK2 gene, coding for dardarin, cause dominantly inherited Parkinson's disease (PD). Dardarin is a large protein, and mutations are …
Authors: Elisa Greggio, Shushant Jain, Ann Kingsbury, Rina Bandopadhyay, Patrick Lewis, Alice Kaganovich, Marcel P van der Brug, Alexandra Beilina, Jeff Blackinton, Kelly Jean Thomas,…
Source: Neurobiology of disease. 2006 Aug
View Full TextFollowing our identification of PTEN-induced putative kinase 1 (PINK1) gene mutations in PARK6-linked Parkinson's disease (PD), we have recently repor…
Authors: Miratul M K Muqit, Patrick M Abou-Sleiman, Adrian T Saurin, Kirsten Harvey, Sonia Gandhi, Emma Deas, Simon Eaton, Martin D Payne Smith, Kerrie Venner, Antoni Matilla,…
Source: Journal of neurochemistry. 2006 Jul
View Full TextLewy bodies (LBs) are the characteristic inclusions of Parkinson's disease brain but the mechanism responsible for their formation is obscure. Lewy bo…
Authors: Rina Bandopadhyay, Ann E Kingsbury, Miratul M Muqit, Kirsten Harvey, Andrew R Reid, Linda Kilford, Simone Engelender, Michael G Schlossmacher, Nicholas W Wood, David S Latchman,…
Source: Neurobiology of disease. 2005 Nov
View Full Text