Protein trafficking defects in inherited kidney diseases
نویسندگان
چکیده
منابع مشابه
Full Review Protein trafficking defects in inherited kidney diseases
The nephron, the basic structural and functional unit of the kidney, is lined by different, highly differentiated polarized epithelial cells. Their concerted action modifies the composition of the glomerular ultrafiltrate through reabsorption and secretion of essential solutes to finally produce urine. The highly specialized properties of the different epithelial cell types of the nephron are r...
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Inherited kidney diseases have been recognized in several breeds or kindreds of dogs and cats, and more examples of such conditions are likely to be identified as renal diseases that occur in a familial pattern are investigated thoroughly. In affected breeds/kindreds, accurate diagnosis of familial nephropathies is especially important because of the potential health and selective breeding impl...
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The glomerular basement membrane (GBM) is a specialized structure with a significant role in maintaining the glomerular filtration barrier. This GBM is formed from the fusion of two basement membranes during development and its function in the filtration barrier is achieved by key extracellular matrix components including type IV collagen, laminins, nidogens, and heparan sulfate proteoglycans. ...
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● Mutations in the polycystic kidney disease (PKD)1 gene account for approximately 85% of affected families.3 ● The PKD1 gene is located on the short arm of chromosome 16 (16p.3.3). PKD1 codes for a 4,304-amino-acid protein (polycystin 1)2 with as yet undefined function but interacts with polycystin 2 and is involved in cell cycle regulation and intracellular calcium transport. Polycystin 1 loc...
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At least 10% of adults and nearly all children who receive renal-replacement therapy have an inherited kidney disease. These patients rarely die when their disease progresses and can remain alive for many years because of advances in organ-replacement therapy. However, these disorders substantially decrease their quality of life and have a large effect on health-care systems. Since the kidneys ...
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ژورنال
عنوان ژورنال: Nephrology Dialysis Transplantation
سال: 2014
ISSN: 0931-0509,1460-2385
DOI: 10.1093/ndt/gfu231