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• W2045419492 startingPage "3691" @default.
• W2045419492 abstract "The primary or hereditary forms of distal renal tubular acidosis (dRTA) have received increased attention because of advances in the understanding of the molecular mechanism, whereby mutations in the main proteins involved in acid-base transport result in impaired acid excretion. Dysfunction of intercalated cells in the collecting tubules accounts for all the known genetic causes of dRTA. These cells secrete protons into the tubular lumen through H(+)-ATPases functionally coupled to the basolateral anion exchanger 1 (AE1). The substrate for both transporters is provided by the catalytic activity of the cytosolic carbonic anhydrase II (CA II), an enzyme which is also present in the proximal tubular cells and osteoclasts. Mutations in ATP6V1B1, encoding the B-subtype unit of the apical H(+) ATPase, and ATP6V0A4, encoding the a-subtype unit, lead to the loss of function of the apical H(+) ATPase and are usually responsible for patients with autosomal recessive dRTA often associated with early or late sensorineural deafness. Mutations in the gene encoding the cytosolic CA II are associated with the autosomal recessive syndrome of osteopetrosis, mixed distal and proximal RTA and cerebral calcification. Mutations in the AE1, the gene that encodes the Cl(-)/HCO(3)(-) exchanger, usually present as dominant dRTA, but a recessive pattern has been recently described. Several studies have shown trafficking defects in the mutant protein rather than the lack of function as the major mechanism underlying the pathogenesis of dRTA from AE1 mutations." @default.
• W2045419492 created "2016-06-24" @default.
• W2045419492 creator A5006630740 @default.
• W2045419492 creator A5047856621 @default.
• W2045419492 date "2012-10-01" @default.
• W2045419492 modified "2023-10-12" @default.
• W2045419492 title "Genetic causes and mechanisms of distal renal tubular acidosis" @default.
• W2045419492 cites W1522409769 @default.
• W2045419492 cites W1551014578 @default.
• W2045419492 cites W1570960267 @default.
• W2045419492 cites W1581489141 @default.
• W2045419492 cites W1963496164 @default.
• W2045419492 cites W1965818240 @default.
• W2045419492 cites W1967589251 @default.
• W2045419492 cites W1969552827 @default.
• W2045419492 cites W1969934334 @default.
• W2045419492 cites W1970449325 @default.
• W2045419492 cites W1971394915 @default.
• W2045419492 cites W1972669220 @default.
• W2045419492 cites W1973982696 @default.
• W2045419492 cites W1983986852 @default.
• W2045419492 cites W1989254381 @default.
• W2045419492 cites W1995377029 @default.
• W2045419492 cites W1995773817 @default.
• W2045419492 cites W1996499484 @default.
• W2045419492 cites W1998433476 @default.
• W2045419492 cites W1999452188 @default.
• W2045419492 cites W1999826236 @default.
• W2045419492 cites W2000396915 @default.
• W2045419492 cites W2004506667 @default.
• W2045419492 cites W2010213901 @default.
• W2045419492 cites W2012991152 @default.
• W2045419492 cites W2013734749 @default.
• W2045419492 cites W2023017566 @default.
• W2045419492 cites W2025477745 @default.
• W2045419492 cites W2025699711 @default.
• W2045419492 cites W2026022621 @default.
• W2045419492 cites W2026786136 @default.
• W2045419492 cites W2027307541 @default.
• W2045419492 cites W2030677245 @default.
• W2045419492 cites W2036891660 @default.
• W2045419492 cites W2038581366 @default.
• W2045419492 cites W2040632010 @default.
• W2045419492 cites W2041683694 @default.
• W2045419492 cites W2041819045 @default.
• W2045419492 cites W2042311423 @default.
• W2045419492 cites W2046585193 @default.
• W2045419492 cites W2046913723 @default.
• W2045419492 cites W2047802142 @default.
• W2045419492 cites W2048392988 @default.
• W2045419492 cites W2049939686 @default.
• W2045419492 cites W2060687142 @default.
• W2045419492 cites W2068348245 @default.
• W2045419492 cites W2068722369 @default.
• W2045419492 cites W2074492703 @default.
• W2045419492 cites W2081516285 @default.
• W2045419492 cites W2082313976 @default.
• W2045419492 cites W2084739258 @default.
• W2045419492 cites W2086114745 @default.
• W2045419492 cites W2104933095 @default.
• W2045419492 cites W2107678837 @default.
• W2045419492 cites W2107790121 @default.
• W2045419492 cites W2112150224 @default.
• W2045419492 cites W2118032630 @default.
• W2045419492 cites W2118613002 @default.
• W2045419492 cites W2120184209 @default.
• W2045419492 cites W2123566181 @default.
• W2045419492 cites W2126636958 @default.
• W2045419492 cites W2128386015 @default.
• W2045419492 cites W2129132759 @default.
• W2045419492 cites W2131398176 @default.
• W2045419492 cites W2140957270 @default.
• W2045419492 cites W2141701605 @default.
• W2045419492 cites W2143462202 @default.
• W2045419492 cites W2143602939 @default.
• W2045419492 cites W2145564117 @default.
• W2045419492 cites W2158848287 @default.
• W2045419492 cites W2159378481 @default.
• W2045419492 cites W2160021472 @default.
• W2045419492 cites W2165743932 @default.
• W2045419492 cites W2166297513 @default.
• W2045419492 cites W2170550107 @default.
• W2045419492 cites W2172066856 @default.
• W2045419492 cites W2174130172 @default.
• W2045419492 cites W2322619587 @default.
• W2045419492 cites W2329891747 @default.
• W2045419492 cites W4236801549 @default.
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• W2045419492 doi "https://doi.org/10.1093/ndt/gfs442" @default.
• W2045419492 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23114896" @default.
• W2045419492 hasPublicationYear "2012" @default.
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