Literature DB >> 16174869

Looking chloride channels straight in the eye: bestrophins, lipofuscinosis, and retinal degeneration.

Criss Hartzell1, Zhiqiang Qu, Ilva Putzier, Liana Artinian, Li-Ting Chien, Yuanyuan Cui.   

Abstract

Recent evidence suggests that Cl(-) ion channels are important for retinal integrity. Bestrophin Cl(-) channel mutations in humans are genetically linked to a juvenile form of macular degeneration, and disruption of some ClC Cl(-) channels in mice leads to retinal degeneration. In both cases, accumulation of lipofuscin pigment is a key feature of the cellular degeneration. Because Cl(-) channels regulate the ionic environment inside organelles in the endosomal-lysosomal pathway, retinal degeneration may result from defects in lysosomal trafficking or function.

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Year:  2005        PMID： 16174869     DOI： 10.1152/physiol.00021.2005

Source DB:  PubMed          Journal:  Physiology (Bethesda)        ISSN： 1548-9221


  31 in total

Review 1.  Bestrophins and retinopathies.

Authors:  Qinghuan Xiao; H Criss Hartzell; Kuai Yu
Journal:  Pflugers Arch       Date:  2010-03-28       Impact factor: 3.657

Review 2.  The retinal pigment epithelium in health and disease.

Authors:  J R Sparrow; D Hicks; C P Hamel
Journal:  Curr Mol Med       Date:  2010-12       Impact factor: 2.222

3.  Modeling of the role of Cl- channels in Ca2+ translocation through endoplasmic reticulum membrane.

Authors:  L R Artinian; W L Dunin-Barkowski; L M Chailakhyan
Journal:  Dokl Biochem Biophys       Date:  2006 Jul-Aug       Impact factor: 0.788

Review 4.  Calcium-dependent chloride conductance in epithelia: is there a contribution by Bestrophin?

Authors:  Karl Kunzelmann; Vladimir M Milenkovic; Melanie Spitzner; René Barro Soria; Rainer Schreiber
Journal:  Pflugers Arch       Date:  2007-03-15       Impact factor: 3.657

Review 5.  Roles of microglia in brain development, tissue maintenance and repair.

Authors:  Mackenzie A Michell-Robinson; Hanane Touil; Luke M Healy; David R Owen; Bryce A Durafourt; Amit Bar-Or; Jack P Antel; Craig S Moore
Journal:  Brain       Date:  2015-03-29       Impact factor: 13.501

6.  A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy.

Authors:  L Zhao; S Grob; R Corey; M Krupa; J Luo; H Du; C Lee; G Hughes; J Lee; J Quach; J Zhu; P X Shaw; I Kozak; K Zhang
Journal:  Eye (Lond)       Date:  2012-03-16       Impact factor: 3.775

7.  Bestrophin-2 is a candidate calcium-activated chloride channel involved in olfactory transduction.

Authors:  Simone Pifferi; Giovanni Pascarella; Anna Boccaccio; Andrea Mazzatenta; Stefano Gustincich; Anna Menini; Silvia Zucchelli
Journal:  Proc Natl Acad Sci U S A       Date:  2006-08-15       Impact factor: 11.205

8.  Bestrophin-2 is involved in the generation of intraocular pressure.

Authors:  Benjamin Bakall; Precious McLaughlin; J Brett Stanton; Youwen Zhang; H Criss Hartzell; Lihua Y Marmorstein; Alan D Marmorstein
Journal:  Invest Ophthalmol Vis Sci       Date:  2008-04       Impact factor: 4.799

9.  New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy.

Authors:  D Marchant; K Yu; K Bigot; O Roche; A Germain; D Bonneau; V Drouin-Garraud; D F Schorderet; F Munier; D Schmidt; P Le Neindre; C Marsac; M Menasche; J L Dufier; R Fischmeister; C Hartzell; M Abitbol
Journal:  J Med Genet       Date:  2007-02-07       Impact factor: 6.318

10.  A PI3 kinase inhibitor found to activate bestrophin 3.

Authors:  Zhiqiang Qu; Xiaohua Han; Yuanyuan Cui; Chunlin Li
Journal:  J Cardiovasc Pharmacol       Date:  2010-01       Impact factor: 3.105
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