Defective processing and expression of thiazide-sensitive Na-Cl cotransporter as a cause of Gitelman’s syndrome
Kunchaparty S, Palcso M, Berkman J, Velázquez H, Desir G, Bernstein P, Reilly R, Ellison D. Defective processing and expression of thiazide-sensitive Na-Cl cotransporter as a cause of Gitelman’s syndrome. American Journal Of Physiology 1999, 277: f643-f649. PMID: 10516289, DOI: 10.1152/ajprenal.1999.277.4.f643.Peer-Reviewed Original ResearchConceptsWild-type cloneTransport proteinsWild-type proteinWild-type geneUnglycosylated proteinProtein processingNa-Cl cotransporterUnglycosylated formEndoplasmic reticulumMutant clonesFunctional expressionDisease mutationsDefective processingXenopus oocytesProteinClonesThiazide-sensitive Na-Cl cotransporterSodium uptakeMutationsOocytesMembrane stainingAutosomal recessive disorderWestern blot