New techniques for evaluating pediatric retinal disease: molecular genetics.

E Reichel; E L Berson

doi:10.1097/00004397-199203210-00013

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New techniques for evaluating pediatric retinal disease: molecular genetics.

E Reichel·E L Berson

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Choroideremia Color Vision Defects DNA Gyrate Atrophy Humans Infant, Newborn Optic Atrophies, Hereditary Retinal Degeneration Retinal Diseases Journal Article Research Support, Non-U.S. Gov't Review

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E Reichel, E L Berson. 1992. New techniques for evaluating pediatric retinal disease: molecular genetics.. https://doi.org/10.1097/00004397-199203210-00013

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The Rab proteins are small GTP-binding proteins and form the largest group within the Ras superfamily. Around 60 mammalian Rab proteins are known. Each Rab is localised to a specific subcellular compartment. Rabs are involved in vesicular traffic of proteins between all compartments of the cell during the exocytic and endocytic pathways. Rabs also interact with cytoskeletal elements and influence the movement of intracellular membrane vesicles and tubules. The Rab proteins are posttranslationally modified at their C-termini by addition of the 20-carbon isoprenoid, geranylgeranyl, mediated by Rab GGTase and this modification is crucial for their function. Mutations in genes encoding proteins essential for the prenylation reaction, Rab Escort Protein and Rab geranylgeranyl transferase, lead to genetic diseases called Choroideremia and Hermansky-Pudlak syndrome.

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PubMed1998

First mutation (S340X) in choroideremia gene in a Spanish family. Mutations in brief no. 173. Online.

A study of choroideremia gene was performed in Spanish families affected with this disorder. One abnormal pattern was detected in exon eight corresponding to a new mutation not described before. The mutation was identified as a nonsense mutation S340X.

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