1 to 10 of 54 literature results

• Norrin, frizzled-4, and Lrp5 signaling in endothelial cells controls a genetic program for retinal vascularization.

  Disorders of vascular structure and function play a central role in a wide variety of CNS diseases. Mutations in the Frizzled-4 (Fz4) receptor, Lrp5 c…

  Authors: Xin Ye, Yanshu Wang, Hugh Cahill, Minzhong Yu, Tudor C Badea, Philip M Smallwood, Neal S Peachey, Jeremy Nathans

  Source: Cell. 2009 Oct 16

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• Suppression of Ca2+ signaling in a mouse model of Best disease.

  Mutations in BEST1, encoding bestrophin-1 (Best1), cause Best vitelliform macular dystrophy (BVMD), a dominantly inherited macular degeneration charac…

  Authors: Youwen Zhang, J Brett Stanton, Jiang Wu, Kuai Yu, H Criss Hartzell, Neal S Peachey, Lihua Y Marmorstein, Alan D Marmorstein

  Source: Human molecular genetics. 2010 Mar 15

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• Functional roles of bestrophins in ocular epithelia.

  There are four members of the bestrophin family of proteins in the human genome, of which two are known to be expressed in the eye. The gene BEST1 (fo…

  Authors: Alan D Marmorstein, Harold E Cross, Neal S Peachey

  Source: Progress in retinal and eye research. 2009 May

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• Formation and progression of sub-retinal pigment epithelium deposits in Efemp1 mutation knock-in mice: a model for the early pathogenic course of macular degeneration.

  Malattia leventinese (ML) is a dominantly inherited macular degenerative disease characterized by the presence of sub-retinal pigment epithelium (RPE)…

  Authors: Lihua Y Marmorstein, Precious J McLaughlin, Neal S Peachey, Takako Sasaki, Alan D Marmorstein

  Source: Human molecular genetics. 2007 Oct 15

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• Early synaptic defects in tulp1-/- mice.

  PURPOSE: Mutations in the photoreceptor-specific tubby-like protein 1 (TULP1) underlie a form of autosomal recessive retinitis pigmentosa. To investig…

  Authors: Gregory H Grossman, Gayle J T Pauer, Umadevi Narendra, Neal S Peachey, Stephanie A Hagstrom

  Source: Investigative ophthalmology & visual science. 2009 Jul

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• Ankyrin-B is required for coordinated expression of beta-2-spectrin, the Na/K-ATPase and the Na/Ca exchanger in the inner segment of rod photoreceptors.

  Rod photoreceptors are highly polarized cells whose exquisite sensitivity to light depends on precise compartmentalization of ion channels/transporter…

  Authors: Krishnakumar Kizhatil, Nina K Sandhu, Neal S Peachey, Vann Bennett

  Source: Experimental eye research. 2009 Jan

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• Voltage-dependent calcium channel CaV1.3 subunits regulate the light peak of the electroretinogram.

  In response to light, the mouse retinal pigment epithelium (RPE) generates a series of slow changes in potential that are referred to as the c-wave, f…

  Authors: Jiang Wu, Alan D Marmorstein, Jörg Striessnig, Neal S Peachey

  Source: Journal of neurophysiology. 2007 May

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• Protective effect of paraoxonase 1 gene variant Gln192Arg in age-related macular degeneration.

  PURPOSE: Age-related macular degeneration (AMD) is the leading cause of blindness among older adults, in which oxidative damage may play a pivotal rol…

  Authors: Gayle J T Pauer, Gwen M Sturgill, Neal S Peachey, Stephanie A Hagstrom, Clinical Genomic And Proteomic AMD Study Group

  Source: American journal of ophthalmology. 2010 Mar

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• Interaction between the photoreceptor-specific tubby-like protein 1 and the neuronal-specific GTPase dynamin-1.

  PURPOSE: Tubby-like proteins (TULPs) are a family of four proteins, two of which have been linked to neurosensory disease phenotypes. TULP1 is a photo…

  Authors: Quansheng Xi, Gayle J T Pauer, Sherry L Ball, Mary Rayborn, Joe G Hollyfield, Neal S Peachey, John W Crabb, Stephanie A Hagstrom

  Source: Investigative ophthalmology & visual science. 2007 Jun

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• Partial rescue of retinal function and sterol steady-state in a rat model of Smith-Lemli-Opitz syndrome.

  The Smith-Lemli-Opitz syndrome (SLOS) is the first-described in a growing family of hereditary defects in cholesterol biosynthesis, and presents with …

  Authors: Steven J Fliesler, Dana K Vaughan, Erin C Jenewein, Michael J Richards, Barbara A Nagel, Neal S Peachey

  Source: Pediatric research. 2007 Mar

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