Degradation mechanism of a Golgi-retained distal renal tubular acidosis mutant of the kidney anion exchanger 1 in renal cells.
about
Transmembrane domain quality control systems operate at the endoplasmic reticulum and Golgi apparatusThe carboxyl-terminally truncated kidney anion exchanger 1 R901X dRTA mutant is unstable at the plasma membrane.Mutations 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.Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing.
P2860
Degradation mechanism of a Golgi-retained distal renal tubular acidosis mutant of the kidney anion exchanger 1 in renal cells.
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2014 nî lūn-bûn
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name
Degradation mechanism of a Gol ...... on exchanger 1 in renal cells.
@en
type
label
Degradation mechanism of a Gol ...... on exchanger 1 in renal cells.
@en
prefLabel
Degradation mechanism of a Gol ...... on exchanger 1 in renal cells.
@en
P2093
P2860
P1476
Degradation mechanism of a Gol ...... ion exchanger 1 in renal cells
@en
P2093
Alina C Rumley
Carmen Y Chu
Emmanuelle Cordat
Jennifer King
Mattia Berrini
R Todd Alexander
P2860
P304
P356
10.1152/AJPCELL.00310.2013
P577
2014-06-11T00:00:00Z