Bothnia Dystrophy Caused by Mutations in the Cellular Retinaldehyde - Binding Protein Gene ( RLBPl ^ on Chromosome 15 q 26 Marie
نویسندگان
چکیده
22. Hollander H, Makarov F, Stefani FH, Stone J. Evidence of constriction of optic nerve axons at the lamina cribrosa in the normotensive eye in humans and other mammals. Ophthalmic Res. 1995; 27:296-309. 23. Perez MT, Arner K, Hankansson A. DNA fragmentation characteristic of apoptosis and cell loss induced by kainic acid in rabbit retinas. Neurochem Int. 1997;31:251-260. 24. OlneyJW. The toxic effects of glutamate and related compounds in the retina and the brain. Retina. 1982;4:34l-359. 25. Vorwerk CK, Lipton SA, Zurakowski D, Hyman BT, Sabel BA, Dreyer AB. Chronic low-dose glutamate is toxic to retinal ganglion cells. Toxicity blocked by memantine. Invest Ophthalmol Vis Sci. 1996;37:l6l8-l624. 26. Perez MT, Davanger S. Distribution of GABA immunoreactivity in kainic acid treated rabbit retina. Exp Brain Res. 1994; 100:227238. 27. Yoon KW, Fuse T, Shah PT, Nguyen S, Klein ML. Indirect glutamate neurotoxicity. / Neurotrauma. 1998; 15:141-147.
منابع مشابه
Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26.
PURPOSE To determine the chromosomal location and to identify the gene causing a type of retinitis punctata albescens, called Bothnia dystrophy, found in a restricted geographic area in northern Sweden. METHODS Twenty patients from seven families originating from a restricted geographic area in northern Sweden were clinically examined. Microsatellite markers were analyzed in all affected and ...
متن کاملOcular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene.
OBJECTIVE To describe the phenotype of Bothnia dystrophy, an autosomal recessive retinal dystrophy with an R234W mutation in the RLBP1 gene encoding cellular retinaldehyde-binding protein. DESIGN Medical records were reviewed retrospectively. Ophthalmologic examination, including kinetic perimetry and, in selected cases, adaptometry, color vision tests, fluorescein angiography, and electrophy...
متن کاملBothnia dystrophy is caused by domino-like rearrangements in cellular retinaldehyde-binding protein mutant R234W.
Cellular retinaldehyde-binding protein (CRALBP) is essential for mammalian vision by routing 11-cis-retinoids for the conversion of photobleached opsin molecules into photosensitive visual pigments. The arginine-to-tryptophan missense mutation in position 234 (R234W) in the human gene RLBP1 encoding CRALBP compromises visual pigment regeneration and is associated with Bothnia dystrophy. Here we...
متن کاملCellular retinaldehyde binding protein-different binding modes and micro-solvation patterns for high-affinity 9-cis- and 11-cis-retinal substrates.
We use molecular dynamics (MD) simulations to determine the binding properties of different retinoid species to cellular retinaldehyde binding protein (CRALBP). The complexes formed by 9-cis-retinal or 11-cis-retinal bound to both the native protein and the R234W mutant, associated to Bothnia-retina dystrophy, are investigated. The presented studies are also complemented by analysis of the bind...
متن کاملNeurofibromatosis, its types and treatment prospects
Neurofibromatosis is a genetic disorder that causes tumors in nerve tissue. These tumors can grow in any part of the nervous system, including the brain, spinal cord and nerves. The disease gene can be passed from a parent to a child through marked autosomal dominant inheritance or it can happen due to a spontaneous mutation of a gene. A parent with neurofibromatosis has a 50% chance of passing...
متن کامل