PubMed

Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation.

Wang T, Zhou A, Waters CT, O'Connor E, Read RJ, Trump D.

Br J Ophthalmol. 2006 Jan;90(1):81-6.PMID: 16361673 [PubMed - indexed for MEDLINE]Related articlesFree article

Coexpression and interaction of wild-type and missense RS1 mutants associated with X-linked retinoschisis: its relevance to gene therapy.

Dyka FM, Molday RS.

Invest Ophthalmol Vis Sci. 2007 Jun;48(6):2491-7.PMID: 17525175 [PubMed - indexed for MEDLINE]Related articlesFree article

Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis.

Wu WW, Molday RS.

J Biol Chem. 2003 Jul 25;278(30):28139-46. Epub 2003 May 13.PMID: 12746437 [PubMed - indexed for MEDLINE]Related articlesFree article

Retinoschisin (RS1), the protein encoded by the X-linked retinoschisis gene, is anchored to the surface of retinal photoreceptor and bipolar cells through its interactions with a Na/K ATPase-SARM1 complex.

Molday LL, Wu WW, Molday RS.

J Biol Chem. 2007 Nov 9;282(45):32792-801. Epub 2007 Sep 5.PMID: 17804407 [PubMed - indexed for MEDLINE]Related articlesFree article

RS1, a discoidin domain-containing retinal cell adhesion protein associated with X-linked retinoschisis, exists as a novel disulfide-linked octamer.

Wu WW, Wong JP, Kast J, Molday RS.

J Biol Chem. 2005 Mar 18;280(11):10721-30. Epub 2005 Jan 11.PMID: 15644328 [PubMed - indexed for MEDLINE]Related articlesFree article

Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis.

Wang T, Waters CT, Rothman AM, Jakins TJ, Römisch K, Trump D.

Hum Mol Genet. 2002 Nov 15;11(24):3097-105.PMID: 12417531 [PubMed - indexed for MEDLINE]Related articlesFree article

Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin.

Walia S, Fishman GA, Molday RS, Dyka FM, Kumar NM, Ehlinger MA, Stone EM.

Am J Ophthalmol. 2009 Jan;147(1):111-115.e1. Epub 2008 Oct 2.PMID: 18834580 [PubMed - indexed for MEDLINE]Related articles

Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells.

Grayson C, Reid SN, Ellis JA, Rutherford A, Sowden JC, Yates JR, Farber DB, Trump D.

Hum Mol Genet. 2000 Jul 22;9(12):1873-9.PMID: 10915776 [PubMed - indexed for MEDLINE]Related articlesFree article

Effects of pathological mutations on the stability of a conserved amino acid triad in retinoschisin.

Fraternali F, Cavallo L, Musco G.

FEBS Lett. 2003 Jun 5;544(1-3):21-6.PMID: 12782284 [PubMed - indexed for MEDLINE]Related articles

Retinoschisin, a photoreceptor-secreted protein, and its interaction with bipolar and muller cells.

Reid SN, Yamashita C, Farber DB.

J Neurosci. 2003 Jul 9;23(14):6030-40.PMID: 12853421 [PubMed - indexed for MEDLINE]Related articlesFree article

X-linked retinoschisis: an update.

Sikkink SK, Biswas S, Parry NR, Stanga PE, Trump D.

J Med Genet. 2007 Apr;44(4):225-32. Epub 2006 Dec 15. Review.PMID: 17172462 [PubMed - indexed for MEDLINE]Related articles

Four Japanese male patients with juvenile retinoschisis: only three have mutations in the RS1 gene.

Hayashi T, Omoto S, Takeuchi T, Kozaki K, Ueoka Y, Kitahara K.

Am J Ophthalmol. 2004 Nov;138(5):788-98.PMID: 15531314 [PubMed - indexed for MEDLINE]Related articles

Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene.

Li X, Ma X, Tao Y.

Mol Vis. 2007 Jun 7;13:804-12.PMID: 17615541 [PubMed - indexed for MEDLINE]Related articlesFree article

Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene.

Lesch B, Szabó V, Kánya M, Varsányi B, Somfai GM, Hargitai J, Vámos R, Fiedler O, Farkas A.

Mol Vis. 2008 Aug 25;14:1549-58.PMID: 18728755 [PubMed - indexed for MEDLINE]Related articlesFree article

Retinoschisin, a new binding partner for L-type voltage-gated calcium channels in the retina.

Shi L, Jian K, Ko ML, Trump D, Ko GY.

J Biol Chem. 2009 Feb 6;284(6):3966-75. Epub 2008 Dec 11.PMID: 19074145 [PubMed - indexed for MEDLINE]Related articles

Retinoschisin is a peripheral membrane protein with affinity for anionic phospholipids and affected by divalent cations.

Vijayasarathy C, Takada Y, Zeng Y, Bush RA, Sieving PA.

Invest Ophthalmol Vis Sci. 2007 Mar;48(3):991-1000.PMID: 17325137 [PubMed - indexed for MEDLINE]Related articlesFree article

RS-1 Gene Delivery to an Adult Rs1h Knockout Mouse Model Restores ERG b-Wave with Reversal of the Electronegative Waveform of X-Linked Retinoschisis.

Zeng Y, Takada Y, Kjellstrom S, Hiriyanna K, Tanikawa A, Wawrousek E, Smaoui N, Caruso R, Bush RA, Sieving PA.

Invest Ophthalmol Vis Sci. 2004 Sep;45(9):3279-85.PMID: 15326152 [PubMed - indexed for MEDLINE]Related articlesFree article

Wild-type and missense mutants of retinoschisin co-assemble resulting in either intra-cellular retention or incorrect assembly of the functionally active octomer.

Gleghorn LJ, Trump D, Bulleid NJ.

Biochem J. 2009 Oct 22. [Epub ahead of print]PMID: 19849666 [PubMed - as supplied by publisher]Related articlesFree article

X-linked retinoschisis: a clinical and molecular genetic review.

Tantri A, Vrabec TR, Cu-Unjieng A, Frost A, Annesley WH Jr, Donoso LA.

Surv Ophthalmol. 2004 Mar-Apr;49(2):214-30. Review.PMID: 14998693 [PubMed - indexed for MEDLINE]Related articles

Expression of X-linked retinoschisis protein RS1 in photoreceptor and bipolar cells.

Molday LL, Hicks D, Sauer CG, Weber BH, Molday RS.

Invest Ophthalmol Vis Sci. 2001 Mar;42(3):816-25.PMID: 11222545 [PubMed - indexed for MEDLINE]Related articlesFree article