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.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117 Clin+Kidney+J
2017 ; 10
(1
): 135-140
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Loss of kAE1 expression in collecting ducts of end-stage kidneys from a family
with SLC4A1 G609R-associated distal renal tubular acidosis
#MMPMID28638614
Vichot AA
; Zsengellér ZK
; Shmukler BE
; Adams ND
; Dahl NK
; Alper SL
Clin Kidney J
2017[Feb]; 10
(1
): 135-140
PMID28638614
show ga
Distal renal tubular acidosis caused by missense mutations in kidney isoform of
anion exchanger 1 (kAE1/SLC4A1), the basolateral membrane Cl(-)/HCO(3)(-)
exchanger of renal alpha-intercalated cells, has been extensively investigated in
heterologous expression systems but rarely in human kidneys. The preferential
apical localization of distal renal tubular acidosis (dRTA)-associated kAE1
mutants R901X, G609R and M909T in cultured epithelial monolayers has not been
examined in human kidney. Here, we present kidney tissues from dRTA-affected
siblings heterozygous for kAE1 G609R, characterized by predominant absence rather
than mistargeting of kAE1 in intercalated cells. Thus, studies of heterologous
recombinant expression of mutant proteins should be, whenever possible,
interpreted in comparison to affected patient tissues.