The vacuolar-ATPase B1 subunit in distal tubular acidosis: novel mutations and mechanisms for dysfunction.

scientific article published on 26 March 2008

The vacuolar-ATPase B1 subunit in distal tubular acidosis: novel mutations and mechanisms for dysfunction. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1038/KI.2008.96
P698PubMed publication ID18368028
P5875ResearchGate publication ID5484556

P2093author name stringJ Zhang
O W Moe
D G Fuster
X-S Xie
P2860cites workMutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafnessQ22008703
Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 geneQ24301941
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing lossQ24315649
Structure at 2.8 A resolution of F1-ATPase from bovine heart mitochondriaQ27730864
Role of vacuolar acidification in protein sorting and zymogen activation: a genetic analysis of the yeast vacuolar proton-translocating ATPaseQ27933484
Yeast vectors for the controlled expression of heterologous proteins in different genetic backgroundsQ28131643
High efficiency transformation of intact yeast cells using single stranded nucleic acids as a carrierQ28131646
The B1 subunit of the H+ATPase is a PDZ domain-binding protein. Colocalization with NHE-RF in renal B-intercalated cellsQ28140731
Revised nomenclature for mammalian vacuolar-type H+ -ATPase subunit genesQ28212690
The vacuolar (H+)-ATPases--nature's most versatile proton pumpsQ28218190
The B1-subunit of the H(+) ATPase is required for maximal urinary acidificationQ28505674
Relocalization of the V-ATPase B2 subunit to the apical membrane of epididymal clear cells of mice deficient in the B1 subunitQ28512781
Expression of the 56-kDa B2 subunit isoform of the vacuolar H(+)-ATPase in proton-secreting cells of the kidney and epididymisQ28581189
Compensatory membrane expression of the V-ATPase B2 subunit isoform in renal medullary intercalated cells of B1-deficient miceQ28588238
V-ATPase B1-subunit promoter drives expression of EGFP in intercalated cells of kidney, clear cells of epididymis and airway cells of lung in transgenic miceQ31139145
Renal vacuolar H+-ATPaseQ34350645
A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosisQ35441615
Acid-base metabolism: implications for kidney stones formationQ36367524
Selective assembly of V-ATPase subunit isoforms in mouse kidneyQ36476062
Vacuolar H+ -ATPase B1 subunit mutations that cause inherited distal renal tubular acidosis affect proton pump assembly and trafficking in inner medullary collecting duct cells.Q40268734
Selective expression of vacuolar H+-ATPase subunit d2 by particular subsets of dendritic cells among leukocytesQ40376754
An electrogenic proton-translocating adenosine triphosphatase from bovine kidney medullaQ40984735
Cysteine-directed cross-linking to subunit B suggests that subunit E forms part of the peripheral stalk of the vacuolar H+-ATPaseQ43810190
Reconstitution in vitro of the V1 complex from the yeast vacuolar proton-translocating ATPase. Assembly recapitulates mechanismQ46357773
Angiotensin II stimulates vacuolar H+ -ATPase activity in renal acid-secretory intercalated cells from the outer medullary collecting duct.Q53547517
Site-directed mutagenesis of the yeast V-ATPase B subunit (Vma2p)Q70915145
Renal tubular acidosis and deafness: report of a large familyQ71126190
Cysteine scanning mutagenesis of the noncatalytic nucleotide binding site of the yeast V-ATPaseQ73316759
Effects of human a3 and a4 mutations that result in osteopetrosis and distal renal tubular acidosis on yeast V-ATPase expression and activityQ79904229
Incomplete renal tubular acidosis and bone mineral density: a population survey in an area of endemic renal tubular acidosisQ80851292
P433issue10
P407language of work or nameEnglishQ1860
P304page(s)1151-1158
P577publication date2008-03-26
P1433published inKidney InternationalQ6404823
P1476titleThe vacuolar-ATPase B1 subunit in distal tubular acidosis: novel mutations and mechanisms for dysfunction.
P478volume73

Reverse relations

cites work (P2860)
Q93138361A subunit of V-ATPases, ATP6V1B2, underlies the pathology of intellectual disability
Q50134999Changes in V-ATPase subunits of human urinary exosomes reflect the renal response to acute acid/alkali loading and the defects in distal renal tubular acidosis
Q35559260Discovery of a Small-Molecule Probe for V-ATPase Function
Q50358114Genetic causes and mechanisms of distal renal tubular acidosis
Q50430940Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss.
Q60303041Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead
Q34439794Incomplete distal renal tubular acidosis from a heterozygous mutation of the V-ATPase B1 subunit
Q26823086Molecular mechanisms and regulation of urinary acidification
Q41010224Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.
Q41678790Mutations in exons 3 and 7 resulting in truncated expression of human ATP6V1B1 gene showing structural variations contributing to poor substrate binding-causative reason for distal renal tubular acidosis with sensorineural deafness
Q64042566Nephrolithiasis secondary to inherited defects in the thick ascending loop of henle and connecting tubules
Q47654204New Findings on the Pathogenesis of Distal Renal Tubular Acidosis.
Q60044371Novel compound heterozygous ATP6V1B1 mutations in a Chinese child patient with primary distal renal tubular acidosis: a case report
Q48218609Pathophysiology, diagnosis and treatment of inherited distal renal tubular acidosis
Q35010075Proteomic-based insight into Malpighian tubules of silkworm Bombyx mori
Q37412431Regulated acid-base transport in the collecting duct
Q35802404The Vacuolar H+-ATPase B1 Subunit Polymorphism p.E161K Associates with Impaired Urinary Acidification in Recurrent Stone Formers
Q30515861V-ATPase V1 sector is required for corpse clearance and neurotransmission in Caenorhabditis elegans
Q81193780When proton pumps go sour: Urinary acidification and kidney stones

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