| pubmed-article:11826292 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:11826292 | lifeskim:mentions | umls-concept:C0596902 | lld:lifeskim |
| pubmed-article:11826292 | lifeskim:mentions | umls-concept:C2924406 | lld:lifeskim |
| pubmed-article:11826292 | lifeskim:mentions | umls-concept:C2316203 | lld:lifeskim |
| pubmed-article:11826292 | pubmed:dateCreated | 2002-3-7 | lld:pubmed |
| pubmed-article:11826292 | pubmed:abstractText | Genetic disorders of acid-base transporters involve plasmalemmal and organellar transporters of H(+), HCO3(-), and Cl(-). Autosomal-dominant and -recessive forms of distal renal tubular acidosis (dRTA) are caused by mutations in ion transporters of the acid-secreting Type A intercalated cell of the renal collecting duct. These include the AE1 Cl(-)/HCO3(-) exchanger of the basolateral membrane and at least two subunits of the apical membrane vacuolar (v)H(+)-ATPase, the V1 subunit B1 (associated with deafness) and the V0 subunit a4. Recessive proximal RTA with ocular disease arises from mutations in the electrogenic Na(+)-bicarbonate cotransporter NBC1 of the proximal tubular cell basolateral membrane. Recessive mixed proximal-distal RTA accompanied by osteopetrosis and mental retardation is associated with mutations in cytoplasmic carbonic anhydrase II. The metabolic alkalosis of congenital chloride-losing diarrhea is caused by mutations in the DRA Cl(-)/HCO3(-) exchanger of the ileocolonic apical membrane. Recessive osteopetrosis is caused by deficient osteoclast acid secretion across the ruffled border lacunar membrane, the result of mutations in the vH(+)-ATPase V0 subunit or in the CLC-7 Cl(-) channel. X-linked nephrolithiasis and engineered deficiencies in some other CLC Cl(-) channels are thought to represent defects of organellar acidification. Study of acid-base transport disease-associated mutations should enhance our understanding of protein structure-function relationships and their impact on the physiology of cell, tissue, and organism. | lld:pubmed |
| pubmed-article:11826292 | pubmed:language | eng | lld:pubmed |
| pubmed-article:11826292 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11826292 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:11826292 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:11826292 | pubmed:issn | 0066-4278 | lld:pubmed |
| pubmed-article:11826292 | pubmed:author | pubmed-author:AlperSeth LSL | lld:pubmed |
| pubmed-article:11826292 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:11826292 | pubmed:volume | 64 | lld:pubmed |
| pubmed-article:11826292 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:11826292 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:11826292 | pubmed:pagination | 899-923 | lld:pubmed |
| pubmed-article:11826292 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:11826292 | pubmed:meshHeading | pubmed-meshheading:11826292... | lld:pubmed |
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| pubmed-article:11826292 | pubmed:meshHeading | pubmed-meshheading:11826292... | lld:pubmed |
| pubmed-article:11826292 | pubmed:meshHeading | pubmed-meshheading:11826292... | lld:pubmed |
| pubmed-article:11826292 | pubmed:meshHeading | pubmed-meshheading:11826292... | lld:pubmed |
| pubmed-article:11826292 | pubmed:year | 2002 | lld:pubmed |
| pubmed-article:11826292 | pubmed:articleTitle | Genetic diseases of acid-base transporters. | lld:pubmed |
| pubmed-article:11826292 | pubmed:affiliation | Molecular Medicine and Renal Units, Beth Israel Deaconess Medical Center, Department of Medicine and Cell Biology, Harvard Medical School Boston, Massachusetts 02215, USA. salper@caregroup.harvard.edu | lld:pubmed |
| pubmed-article:11826292 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:11826292 | pubmed:publicationType | Review | lld:pubmed |
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