A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells

scientific article

A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1074/JBC.M400188200
P698PubMed publication ID14734552

P50authorFiona E KaretQ55691016
Frank ReimannQ61094331
P2093author name stringPa-Thai Yenchitsomanus
Varaporn Akkarapatumwong
William M Bennett
Mark A J Devonald
Alan W Cuthbert
Nanyawan Rungroj
P2860cites workNon-polarized targeting of AE1 causes autosomal dominant distal renal tubular acidosisQ24293024
Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up to 95% band 3 transport in red cellsQ24532109
Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) geneQ24561520
Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)Q24635921
Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosisQ24647772
Genetic diseases of acid-base transportersQ28217352
New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studiesQ34068233
Hereditary distal renal tubular acidosis: new understandingsQ34132029
Novel topology in C-terminal region of the human plasma membrane anion exchanger, AE1.Q34160435
Inherited distal renal tubular acidosis.Q34758982
Effects of primer-template mismatches on the polymerase chain reaction: human immunodeficiency virus type 1 model studiesQ35829749
Bicarbonate and chloride secretion in Calu-3 human airway epithelial cellsQ36420455
Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A.Q37388345
Structural aspects of the red cell anion exchange proteinQ39740466
Impaired trafficking of human kidney anion exchanger (kAE1) caused by hetero-oligomer formation with a truncated mutant associated with distal renal tubular acidosisQ40704496
Impaired trafficking of distal renal tubular acidosis mutants of the human kidney anion exchanger kAE1.Q40740083
Band 3 Walton, a C-terminal deletion associated with distal renal tubular acidosis, is expressed in the red cell membrane but retained internally in kidney cells.Q40760916
A novel cellular phenotype for familial hypercholesterolemia due to a defect in polarized targeting of LDL receptorQ40801530
A role for the beta-subunit in the expression of functional Na+-K+-ATPase in Xenopus oocytesQ41782467
Comparison of the osmolyte transport properties induced by trAE1 versus IClswell in Xenopus oocytesQ43916362
Autosomal recessive distal renal tubular acidosis caused by G701D mutation of anion exchanger 1 geneQ44043669
A de novo R589C mutation of anion exchanger 1 causing distal renal tubular acidosisQ44443649
Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl-/HCO3- exchangerQ48943537
Inhibitory interactions between two inward rectifier K+ channel subunits mediated by the transmembrane domainsQ49016947
The acid test for band 3Q60081254
Autosomal recessive distal renal tubular acidosis associated with Southeast Asian ovalocytosisQ73205070
Atypical distal renal tubular acidosis confirmed by mutation analysisQ73373645
A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosisQ79342764
P433issue14
P407language of work or nameEnglishQ1860
P921main subjectdistal renal tubular acidosisQ2896802
solute carrier family 4 member 1 (Diego blood group)Q425149
renal tubular acidosisQ1516211
P304page(s)13833-8
P577publication date2004-04-02
P1433published inJournal of Biological ChemistryQ867727
P1476titleA novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells
P478volume279

Reverse relations

cites work (P2860)
Q80076621A mutant of the Arabidopsis phosphate transporter PHT1;1 displays enhanced arsenic accumulation
Q42853667A novel SLC4A1 variant in an autosomal dominant distal renal tubular acidosis family with a severe phenotype
Q38911591Acidosis and Urinary Calcium Excretion: Insights from Genetic Disorders
Q46857168An analysis of renal tubular acidosis by the Stewart method
Q33628362Autosomal dominant distal renal tubular acidosis caused by a mutation in the anion exchanger 1 gene in a Japanese family
Q38255748Bicarbonate transport in health and disease
Q48749168Cation transport activity of anion exchanger 1 mutations found in inherited distal renal tubular acidosis
Q39680622Cell surface rescue of kidney anion exchanger 1 mutants by disruption of chaperone interactions
Q39821916Compound mutations in human anion exchanger 1 are associated with complete distal renal tubular acidosis and hereditary spherocytosis
Q88564133Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations
Q40253903Expression and interaction of two compound heterozygous distal renal tubular acidosis mutants of kidney anion exchanger 1 in epithelial cells
Q24322913Functional analysis of a novel missense NBC1 mutation and of other mutations causing proximal renal tubular acidosis
Q50358114Genetic causes and mechanisms of distal renal tubular acidosis
Q39656914Human kidney anion exchanger 1 interacts with adaptor-related protein complex 1 μ1A (AP-1 mu1A)
Q40531923Identification of a carboxyl-terminal motif essential for the targeting of Na+-HCO-3 cotransporter NBC1 to the basolateral membrane
Q60303041Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead
Q36844436Inherited renal acidoses.
Q42204923Loss of kAE1 expression in collecting ducts of end-stage kidneys from a family with SLC4A1 G609R-associated distal renal tubular acidosis
Q40457704Missense mutations in Na+:HCO3- cotransporter NBC1 show abnormal trafficking in polarized kidney cells: a basis of proximal renal tubular acidosis.
Q42614752Molecular Approach for Distal Renal Tubular Acidosis Associated AE1 Mutations
Q90195760Molecular Simulations of Intact Anion Exchanger 1 Reveal Specific Domain and Lipid Interactions
Q30400815Molecular analysis of sequence and splice variants of the human SLC13A4 sulfate transporter
Q37241873Molecular mechanisms of autosomal dominant and recessive distal renal tubular acidosis caused by SLC4A1 (AE1) mutations
Q36050939Mutation conferring apical-targeting motif on AE1 exchanger causes autosomal dominant distal RTA.
Q50277888Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing
Q90182842Red Blood Cell AE1/Band 3 Transports in Dominant Distal Renal Tubular Acidosis Patients
Q37412431Regulated acid-base transport in the collecting duct
Q36450027Regulation of transport in the connecting tubule and cortical collecting duct
Q28484443Restoration of proper trafficking to the cell surface for membrane proteins harboring cysteine mutations
Q36388616SLC4 base (HCO3 -, CO3 2-) transporters: classification, function, structure, genetic diseases, and knockout models
Q91236096Structural mechanism of the active bicarbonate transporter from cyanobacteria
Q42852253The activity of the thiazide-sensitive Na(+)-Cl(-) cotransporter is regulated by protein phosphatase PP4.
Q40278577The human NBCe1-A mutant R881C, associated with proximal renal tubular acidosis, retains function but is mistargeted in polarized renal epithelia
Q64092677The kidney anion exchanger 1 affects tight junction properties via claudin-4
Q38338952Trafficking defects of a novel autosomal recessive distal renal tubular acidosis mutant (S773P) of the human kidney anion exchanger (kAE1).
Q36704530Unraveling trafficking of the kidney anion exchanger 1 in polarized MDCK epithelial cells
Q40417631Zebrafish slc4a2/ae2 anion exchanger: cDNA cloning, mapping, functional characterization, and localization

Search more.