The Genomic, Biochemical, and Cellular Responses of the Retina in Inherited Photoreceptor Degenerations and Prospects for the Treatment of These Disorders.
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| Title: | The Genomic, Biochemical, and Cellular Responses of the Retina in Inherited Photoreceptor Degenerations and Prospects for the Treatment of These Disorders. |
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| Authors: | Bramall, Alexa N., Wright, Alan F., Jacobson, Samuel G., McInnes, Roderick R. |
| Source: | Annual Review of Neuroscience. Jun2010, Vol. 33 Issue 1, p441-472. 38p. 4 Diagrams, 1 Chart. |
| Subjects: | Photoreceptors, Microglia, Blood vessels, Histopathology, Gene therapy |
| Abstract: | The association of more than 140 genes with human photoreceptor degenerations, together with studies of animal models of these monogenic diseases, has provided great insight into their pathogenesis. Here we review the responses of the retina to photoreceptor mutations, including mechanisms of photoreceptor death. We discuss the roles of oxidative metabolism, mitochondrial reactive oxygen species, metabolic stress, protein misfolding, and defects in ciliary proteins, as well as the responses of Müller glia, microglia, and the retinal vasculature. Finally, we report on potential pharmacologic and biologic therapies, the critical role of histopathology as a prerequisite to treatment, and the exciting promise of gene therapy in animal models and in phase 1 trials in humans. [ABSTRACT FROM AUTHOR] |
| Copyright of Annual Review of Neuroscience is the property of Annual Reviews Inc. and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) | |
| Database: | Psychology and Behavioral Sciences Collection |
| FullText | Text: Availability: 0 |
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| Header | DbId: pbh DbLabel: Psychology and Behavioral Sciences Collection An: 53352612 AccessLevel: 6 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: The Genomic, Biochemical, and Cellular Responses of the Retina in Inherited Photoreceptor Degenerations and Prospects for the Treatment of These Disorders. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Bramall%2C+Alexa+N%2E%22">Bramall, Alexa N.</searchLink><br /><searchLink fieldCode="AR" term="%22Wright%2C+Alan+F%2E%22">Wright, Alan F.</searchLink><br /><searchLink fieldCode="AR" term="%22Jacobson%2C+Samuel+G%2E%22">Jacobson, Samuel G.</searchLink><br /><searchLink fieldCode="AR" term="%22McInnes%2C+Roderick+R%2E%22">McInnes, Roderick R.</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Annual+Review+of+Neuroscience%22">Annual Review of Neuroscience</searchLink>. Jun2010, Vol. 33 Issue 1, p441-472. 38p. 4 Diagrams, 1 Chart. – Name: Subject Label: Subjects Group: Su Data: <searchLink fieldCode="DE" term="%22Photoreceptors%22">Photoreceptors</searchLink><br /><searchLink fieldCode="DE" term="%22Microglia%22">Microglia</searchLink><br /><searchLink fieldCode="DE" term="%22Blood+vessels%22">Blood vessels</searchLink><br /><searchLink fieldCode="DE" term="%22Histopathology%22">Histopathology</searchLink><br /><searchLink fieldCode="DE" term="%22Gene+therapy%22">Gene therapy</searchLink> – Name: Abstract Label: Abstract Group: Ab Data: The association of more than 140 genes with human photoreceptor degenerations, together with studies of animal models of these monogenic diseases, has provided great insight into their pathogenesis. Here we review the responses of the retina to photoreceptor mutations, including mechanisms of photoreceptor death. We discuss the roles of oxidative metabolism, mitochondrial reactive oxygen species, metabolic stress, protein misfolding, and defects in ciliary proteins, as well as the responses of Müller glia, microglia, and the retinal vasculature. Finally, we report on potential pharmacologic and biologic therapies, the critical role of histopathology as a prerequisite to treatment, and the exciting promise of gene therapy in animal models and in phase 1 trials in humans. [ABSTRACT FROM AUTHOR] – Name: AbstractSuppliedCopyright Label: Group: Ab Data: <i>Copyright of Annual Review of Neuroscience is the property of Annual Reviews Inc. and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.) |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=pbh&AN=53352612 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1146/annurev-neuro-060909-153227 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 38 StartPage: 441 Subjects: – SubjectFull: Photoreceptors Type: general – SubjectFull: Microglia Type: general – SubjectFull: Blood vessels Type: general – SubjectFull: Histopathology Type: general – SubjectFull: Gene therapy Type: general Titles: – TitleFull: The Genomic, Biochemical, and Cellular Responses of the Retina in Inherited Photoreceptor Degenerations and Prospects for the Treatment of These Disorders. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Bramall, Alexa N. – PersonEntity: Name: NameFull: Wright, Alan F. – PersonEntity: Name: NameFull: Jacobson, Samuel G. – PersonEntity: Name: NameFull: McInnes, Roderick R. IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 06 Text: Jun2010 Type: published Y: 2010 Identifiers: – Type: issn-print Value: 0147006X Numbering: – Type: volume Value: 33 – Type: issue Value: 1 Titles: – TitleFull: Annual Review of Neuroscience Type: main |
| ResultId | 1 |
