Reduction of lipid accumulation rescues Bietti’s crystalline dystrophy phenotypes
نویسندگان
چکیده
منابع مشابه
Crystalline stromal dystrophy: histochemistry
A report of a woman in her fifties with Schnyder's crystalline stromal dystrophy is presented. There is no personal or family history of hypercholesterolaemia. A full thickness corneal disc was removed before grafting and examined by polarised light, histochemistry, and electron microscopy. Specific lipid histochemical methods showed deposits of cholesterol and cholesterol ester in the superfic...
متن کاملCentral crystalline corneal dystrophy.
The purpose of this paper is to report the first family from Great Britain with central crystalline corneal dystrophy and to discuss the pathogenesis of this condition, a welldocumented entity (Waardenburg, Franceschetti, and Klein, I96I), the genetical basis of which was first demonstrated in a family of eight by van Went and Wibaut (1924), and confirmed by Schnyder (1927, I929, 1939). The con...
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PTEN-induced kinase 1 (PINK1) is a serine/threonine kinase that is localized to mitochondria. It protects cells from oxidative stress by suppressing mitochondrial cytochrome c release, thereby preventing cell death. Mutations in Pink1 cause early-onset Parkinson's disease (PD). Consistently, mitochondrial function is impaired in Pink1-linked PD patients and model systems. Previously, in vitro a...
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Abnormal lipid metabolism in adipose tissue is closely related to the occurrence and progression of a wide variety of metabolic syndromes. We have analyzed the pharmacological effects of Chinese herbal medicines on cell differentiation and lipid metabolism in adipocytes. Yi-Gan-San (YGS) is a Chinese herbal medicine that is effective in treating the behavioral and psychological symptoms of deme...
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PURPOSE To report corneal findings in a familial case of the crystalline subtype of pre-Descemetic corneal dystrophy. CASE REPORT A 19-year-old girl and her 44-year-old mother were found to have asymptomatic, bilateral, punctiform and multi-colored crystalline opacities across the whole posterior layer of the corneas. Endothelial specular microscopy revealed the presence of white round flecks...
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 2018
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.1717338115