γ-COPI mediates the retention of kAE1 G701D protein in Golgi apparatus - a mechanistic explanation of distal renal tubular acidosis associated with the G701D mutation

Mutations of the ( ) gene encoding kidney anion (chloride/bicarbonate ion) exchanger 1 (kAE1) can cause genetic distal renal tubular acidosis (dRTA). Different mutations give rise to mutant kAE1 proteins with distinct defects in protein trafficking. The mutant kAE1 protein may be retained in endopla...

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Veröffentlicht in:	Biochemical journal 2017-08, Vol.474 (15), p.2573-2584
Hauptverfasser:	Duangtum, Natapol, Junking, Mutita, Phadngam, Suratchanee, Sawasdee, Nunghathai, Castiglioni, Andrea, Charngkaew, Komgrid, Limjindaporn, Thawornchai, Isidoro, Ciro, Yenchitsomanus, Pa-Thai
Format:	Artikel
Sprache:	eng
Schlagworte:	Acidosis, Renal Tubular - metabolism Adaptor Proteins, Signal Transducing Anion Exchange Protein 1, Erythrocyte - genetics Anion Exchange Protein 1, Erythrocyte - metabolism Coatomer Protein - metabolism Gene Knockdown Techniques Golgi Apparatus - metabolism Golgi Apparatus - ultrastructure HEK293 Cells Humans Kidney - pathology Kidney - ultrastructure Models, Biological Mutant Proteins - metabolism Mutation - genetics Protein Binding Protein Subunits - metabolism RNA, Small Interfering - metabolism
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