Transit Defect of Potassium-Chloride Co-transporter 3 Is a Major Pathogenic Mechanism in Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum
Open Access
- 1 August 2011
- journal article
- Published by Elsevier BV in Journal of Biological Chemistry
- Vol. 286 (32), 28456-28465
- https://doi.org/10.1074/jbc.m111.226894
Abstract
No abstract availableThis publication has 17 references indexed in Scilit:
- A Conserved Hydrophobic Tetrad near the C Terminus of the Secretory Na+-K+-2Cl- Cotransporter (NKCC1) Is Required for Its Correct Intracellular ProcessingPublished by Elsevier BV ,2009
- Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndromeNeurology, 2006
- CFTR is required for PKA-regulated ATP sensitivity of Kir1.1 potassium channels in mouse kidneyJCI Insight, 2006
- Rescue of ΔF508-CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) by Curcumin: Involvement of the Keratin 18 NetworkThe Journal of pharmacology and experimental therapeutics, 2006
- Molecular Physiology and Pathophysiology of Electroneutral Cation-Chloride CotransportersPhysiological Reviews, 2005
- Curcumin Stimulates Cystic Fibrosis Transmembrane Conductance Regulator Cl– Channel ActivityPublished by Elsevier BV ,2005
- Curcumin, a Major Constituent of Turmeric, Corrects Cystic Fibrosis DefectsScience, 2004
- KCl Cotransport Is an Important Modulator of Human Cervical Cancer Growth and InvasionPublished by Elsevier BV ,2003
- The K–Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosumNature Genetics, 2002
- Missense mutation (G480C) in the CFTR gene associated with protein mislocalization but normal chloride channel activityHuman Molecular Genetics, 1995