retinal degeneration/carbohydrate

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Photoactivation-induced instability of rhodopsin mutants T4K and T17M in rod outer segments underlies retinal degeneration in X. laevis transgenic models of retinitis pigmentosa.

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Retinitis pigmentosa (RP) is an inherited neurodegenerative disease involving progressive vision loss, and is often linked to mutations in the rhodopsin gene. Mutations that abolish N-terminal glycosylation of rhodopsin (T4K and T17M) cause sector RP in which the inferior retina preferentially

Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders.

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A new group of metabolic disorders, the carbohydrate-deficient glycoprotein (CDG) syndromes, is reviewed with emphasis on the key condition, the CDG syndrome type I. This disease, an autosomal-recessive multisystem condition, has now been diagnosed in 45 Scandinavian patients. It is characterized by

[Carbohydrate-deficient glycoprotein syndrome and progression in electrophysiological results].

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OBJECTIVE To document the progression of clinical and electrophysiological abnormalities in an infant with carbohydrate-deficient glycoprotein syndrome type Ia (CDGS Ia) over a period of 5 years. METHODS A 12-month-old male underwent clinical ophthalmic and electrophysiological examination at the

The role of rhodopsin glycosylation in protein folding, trafficking, and light-sensitive retinal degeneration.

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Several mutations in the N terminus of the G-protein-coupled receptor rhodopsin disrupt NXS/T consensus sequences for N-linked glycosylation (located at N2 and N15) and cause sector retinitis pigmentosa in which the inferior retina preferentially degenerates. Here we examined the role of rhodopsin

Structural changes of the interphotoreceptor matrix in an inherited retinal degeneration: a lectin cytochemical study of progressive rod-cone degeneration.

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OBJECTIVE In the retinal disorder progressive rod-cone degeneration (prcd) in miniature poodle dogs, the photoreceptor layer degenerates slowly in the course of 5 to 7 years. Components of the interphotoreceptor matrix form a continuous extracellular lattice around photoreceptors. The purpose was to

Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.

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Degeneration of the cerebrum, cerebellum, and retina in infancy is part of the clinical spectrum of lysosomal storage disorders, mitochondrial respiratory chain defects, carbohydrate glycosylation defects, and infantile neuroaxonal dystrophy. We studied eight individuals from two unrelated families

Partial rescue of retinal function in chronically hypoglycemic mice.

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OBJECTIVE Mice rendered hypoglycemic by a null mutation in the glucagon receptor gene Gcgr display late-onset retinal degeneration and loss of retinal sensitivity. Acute hyperglycemia induced by dextrose ingestion does not restore their retinal function, which is consistent with irreversible loss of

Distribution of anionic sites on the surface of retinal pigment epithelial and rod photoreceptor cells.

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The distribution of anionic (negatively charged) groups on the surface of retinal pigment epithelial cells (RPE), rod photoreceptor cells (RP) and discarded rod outer segments (R0S) was studied by labeling these groups with cationic ferritin (CF) at different pH values. In normal neonatal rats,

Pharmacologic intervention targeting glycolytic-related pathways protects against retinal injury due to ischemia and reperfusion.

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Retinal ischemia contributes to multiple ocular diseases while aminoguanidine (AMG) treatment significantly inhibits the neuronal and vascular degeneration due to acute retinal ischemia and reperfusion (I/R) injury. In the present study, 2-D DIGE was applied to profile global protein expression

Lectin-ferritin binding on dystrophic and normal retinal pigment epithelial membranes.

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Phagocytosis in the rat retina is a process which involves uptake of shed photoreceptor outer segments by the overlying retinal pigment epithelium (RPE). In rats with inherited retinal degeneration, there is a defect in phagocytosis. One aspect of this phagocytic defect may be an alteration in

Development and fate of interphotoreceptor matrix components during dysplastic photoreceptor differentiation: a lectin cytochemical study of rod-cone dysplasia 1.

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The autosomal recessive retinal degeneration rod-cone dysplasia 1 (rcd1) affects Irish setter dogs during early postnatal development. The disease is the result of a cyclic guanosine monophosphate metabolic abnormality and morphological evidence of disease onset correlates with initiation of

Neurologic course of congenital disorders of glycosylation.

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Congenital disorders of glycosylation, formerly called carbohydrate-deficient glycoprotein syndrome, may present in infancy with slowly progressive neurologic deficits including cognitive impairment, ataxia, pigmentary retinal degeneration, and neuropathy. The metabolic defect is in N-linked

Retinal pathology and function in a Cln3 knockout mouse model of juvenile Neuronal Ceroid Lipofuscinosis (batten disease).

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Batten disease or JNCL, is the juvenile form of Neuronal Ceroid Lipofuscinosis (NCL) an autosomal recessive neurodegenerative disorder. Since retinal degeneration is an early consequence of Batten disease, we examined the eyes of Cln3 knockout mice (1-20 months of age), along with heterozygotes and

Ocular changes in mucopolysaccharidosis IV A (Morquio A syndrome) and long-term results of perforating keratoplasty.

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BACKGROUND The mucopolysaccharidoses (MPS) are an inhomogeneous group of disorders of errors in the carbohydrate metabolism with severe ocular involvement (corneal opacification, retinal degeneration, optic atrophy). METHODS We report on a boy aged 12 years, with Morquio A (MPS IV A) syndrome.

Metformin protects against retinal cell death in diabetic mice.

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Retinal degeneration is an early feature of diabetic retinopathy, the major cause of blindness in the developed world. Here we investigated how the widely used antidiabetic drug metformin reduces retinal injury in diabetic mice. Metformin was orally administered to control mice or mice with

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