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Literature DB >> 22183371

Biology of retinoschisin.

Camasamudram Vijayasarathy¹, Lucia Ziccardi, Paul A Sieving.

Abstract

Entities: Chemical Disease Gene Species

Mesh：

Substances：

Year: 2012 PMID： 22183371 PMCID： PMC3475158 DOI： 10.1007/978-1-4614-0631-0_64

Source DB: PubMed Journal: Adv Exp Med Biol ISSN： 0065-2598 Impact factor: 2.622

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36 in total

1. Tyrosinase is the modifier of retinoschisis in mice.

Authors: Britt A Johnson; Brian S Cole; Eldon E Geisert; Sakae Ikeda; Akihiro Ikeda
Journal: Genetics Date: 2010-09-27 Impact factor: 4.562

2. Retinoschisin (RS1) interacts with negatively charged lipid bilayers in the presence of Ca2+: an atomic force microscopy study.

Authors: Svetlana Kotova; Camasamudram Vijayasarathy; Emilios K Dimitriadis; Laertis Ikonomou; Howard Jaffe; Paul A Sieving
Journal: Biochemistry Date: 2010-08-24 Impact factor: 3.162

3. Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease.

Authors: Camasamudram Vijayasarathy; Ruifang Sui; Yong Zeng; Guoxing Yang; Fei Xu; Rafael C Caruso; Richard A Lewis; Lucia Ziccardi; Paul A Sieving
Journal: Hum Mutat Date: 2010-11 Impact factor: 4.878

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

Authors: Liheng Shi; Kuihuan Jian; Michael L Ko; Dorothy Trump; Gladys Y-P Ko
Journal: J Biol Chem Date: 2008-12-11 Impact factor: 5.157

5. Synaptic pathology in retinoschisis knockout (Rs1-/y) mouse retina and modification by rAAV-Rs1 gene delivery.

Authors: Yuichiro Takada; Camasamudram Vijayasarathy; Yong Zeng; Sten Kjellstrom; Ronald A Bush; Paul A Sieving
Journal: Invest Ophthalmol Vis Sci Date: 2008-08 Impact factor: 4.799

6. Effect of late-stage therapy on disease progression in AAV-mediated rescue of photoreceptor cells in the retinoschisin-deficient mouse.

Authors: Andreas Janssen; Seok H Min; Laurie L Molday; Naoyuki Tanimoto; Mathias W Seeliger; William W Hauswirth; Robert S Molday; Bernhard H F Weber
Journal: Mol Ther Date: 2008-03-25 Impact factor: 11.454

7. Intravitreal delivery of AAV8 retinoschisin results in cell type-specific gene expression and retinal rescue in the Rs1-KO mouse.

Authors: T K Park; Z Wu; S Kjellstrom; Y Zeng; R A Bush; P A Sieving; P Colosi
Journal: Gene Ther Date: 2009-05-21 Impact factor: 5.250

8. Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.

Authors: Y V Sergeev; R C Caruso; M R Meltzer; N Smaoui; I M MacDonald; P A Sieving
Journal: Hum Mol Genet Date: 2010-01-08 Impact factor: 6.150

9. Null retinoschisin-protein expression from an RS1 c354del1-ins18 mutation causing progressive and severe XLRS in a cross-sectional family study.

Authors: Camasamudram Vijayasarathy; Lucia Ziccardi; Yong Zeng; Nizar Smaoui; Rafael C Caruso; Paul A Sieving
Journal: Invest Ophthalmol Vis Sci Date: 2009-05-27 Impact factor: 4.799

Biology of retinoschisin.

1. Tyrosinase is the modifier of retinoschisis in mice.

2. Retinoschisin (RS1) interacts with negatively charged lipid bilayers in the presence of Ca2+: an atomic force microscopy study.

3. Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease.

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

5. Synaptic pathology in retinoschisis knockout (Rs1-/y) mouse retina and modification by rAAV-Rs1 gene delivery.

6. Effect of late-stage therapy on disease progression in AAV-mediated rescue of photoreceptor cells in the retinoschisin-deficient mouse.

7. Intravitreal delivery of AAV8 retinoschisin results in cell type-specific gene expression and retinal rescue in the Rs1-KO mouse.

8. Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.

9. Null retinoschisin-protein expression from an RS1 c354del1-ins18 mutation causing progressive and severe XLRS in a cross-sectional family study.

10. Mutations of the XLRS1 gene cause abnormalities of photoreceptor as well as inner retinal responses of the ERG.

1. Retinal Gene Therapy: Current Progress and Future Prospects.

2. An ex vivo gene therapy approach in X-linked retinoschisis.

3. Retinoschisin Facilitates the Function of L-Type Voltage-Gated Calcium Channels.

Review 4. Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss.