PMID: 7537418Feb 1, 1995Paper

Molecular mechanisms of inherited startle syndromes

Trends in Neurosciences
S Rajendra, P R Schofield

Abstract

Inherited neurological disorders involving an exaggerated startle response to unexpected sensory stimuli have been identified in mice, cows, dogs, horses and humans. Recent studies of the molecular pathology of a number of these startle syndromes have revealed that they are caused by defects in the inhibitory glycinergic pathways that mediate reciprocal and recurrent inhibition in the spinal cord. These defects arise from various mutations of the receptor for glycine, which either impair its sensitivity to agonists or reduce its expression in vivo. The emergent models of the molecular mechanisms that underlie startle disorders illustrate how diverse mutations can converge physiologically to produce a common phenotype.

References

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Citations

Jul 16, 1999·Neurochemistry International·S J Mihic
Apr 22, 2009·The Journal of Pharmacology and Experimental Therapeutics·Brian T WelshS John Mihic
May 27, 2010·The Journal of Biological Chemistry·Megan E TippsS John Mihic
Sep 12, 2006·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Maria TrakaBrian Popko
Jun 9, 2004·Journal of Neuroscience Methods·B A GrahamR J Callister
Feb 28, 2002·The European Journal of Neuroscience·P PierobonA Concas
Sep 24, 2004·Physiological Reviews·Joseph W Lynch
Jan 13, 2006·British Journal of Pharmacology·N G Bowery, T G Smart
Jul 1, 2009·The Journal of Physiology·Lei DuanMalcolm M Slaughter

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