1 to 10 of 21 literature results

• Highly effective SNP-based association mapping and management of recessive defects in livestock.

  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

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• The mitochondrial protease HtrA2 is regulated by Parkinson's disease-associated kinase PINK1.

  In 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

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• Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.

  Hyperekplexia 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

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• Neuroligin 2 drives postsynaptic assembly at perisomatic inhibitory synapses through gephyrin and collybistin.

  In 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

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• Mutations in the LRRK2 Roc-COR tandem domain link Parkinson's disease to Wnt signalling pathways.

  Mutations 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

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• A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation.

  Clustering 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

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• A heterozygous effect for PINK1 mutations in Parkinson's disease?

  OBJECTIVE: 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

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

  Mutations 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

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• Altered cleavage and localization of PINK1 to aggresomes in the presence of proteasomal stress.

  Following 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

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• Synphilin-1 and parkin show overlapping expression patterns in human brain and form aggresomes in response to proteasomal inhibition.

  Lewy 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

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