Papers associated with slc12a6

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	Cloning and characterization of KCC3 and KCC4, new members of the cation-chloride cotransporter gene family., Mount DB, Mercado A, Song L, Xu J, George AL, Delpire E, Gamba G., J Biol Chem. June 4, 1999; 274 (23): 16355-62.
	Functional comparison of the K+-Cl- cotransporters KCC1 and KCC4., Mercado A, Song L, Vazquez N, Mount DB, Gamba G., J Biol Chem. September 29, 2000; 275 (39): 30326-34.
	A dominant negative mutant of the KCC1 K-Cl cotransporter: both N- and C-terminal cytoplasmic domains are required for K-Cl cotransport activity., Casula S, Shmukler BE, Wilhelm S, Stuart-Tilley AK, Su W, Chernova MN, Brugnara C, Alper SL., J Biol Chem. November 9, 2001; 276 (45): 41870-8.
	The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum., Howard HC, Mount DB, Rochefort D, Byun N, Dupré N, Lu J, Fan X, Song L, Rivière JB, Prévost C, Horst J, Simonati A, Lemcke B, Welch R, England R, Zhan FQ, Mercado A, Siesser WB, George AL, McDonald MP, Bouchard JP, Mathieu J, Delpire E, Rouleau GA., Nat Genet. November 1, 2002; 32 (3): 384-92.
	Ammonium transport and pH regulation by K(+)-Cl(-) cotransporters., Bergeron MJ, Gagnon E, Wallendorff B, Lapointe JY, Isenring P., Am J Physiol Renal Physiol. July 1, 2003; 285 (1): F68-78.
	NH2-terminal heterogeneity in the KCC3 K+-Cl- cotransporter., Mercado A, Vázquez N, Song L, Cortés R, Enck AH, Welch R, Delpire E, Gamba G, Mount DB., Am J Physiol Renal Physiol. December 1, 2005; 289 (6): F1246-61.
	WNK4 kinase is a negative regulator of K+-Cl- cotransporters., Garzón-Muvdi T, Pacheco-Alvarez D, Gagnon KB, Vázquez N, Ponce-Coria J, Moreno E, Delpire E, Gamba G., Am J Physiol Renal Physiol. April 1, 2007; 292 (4): F1197-207.
	Homooligomeric and heterooligomeric associations between K+-Cl- cotransporter isoforms and between K+-Cl- and Na+-K+-Cl- cotransporters., Simard CF, Bergeron MJ, Frenette-Cotton R, Carpentier GA, Pelchat ME, Caron L, Isenring P., J Biol Chem. June 22, 2007; 282 (25): 18083-18093.
	Distal truncation of KCC3 in non-French Canadian HMSN/ACC families., Salin-Cantegrel A, Rivière JB, Dupré N, Charron FM, Shekarabi M, Karéméra L, Gaspar C, Horst J, Tekin M, Deda G, Krause A, Lippert MM, Willemsen MA, Jarrar R, Lapointe JY, Rouleau GA., Neurology. September 25, 2007; 69 (13): 1350-5.
	HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3., Salin-Cantegrel A, Shekarabi M, Holbert S, Dion P, Rochefort D, Laganière J, Dacal S, Hince P, Karemera L, Gaspar C, Lapointe JY, Rouleau GA., Hum Mol Genet. September 1, 2008; 17 (17): 2703-11.
	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., Salin-Cantegrel A, Rivière JB, Shekarabi M, Rasheed S, Dacal S, Laganière J, Gaudet R, Rochefort D, Lesca G, Gaspar C, Dion PA, Lapointe JY, Rouleau GA., J Biol Chem. August 12, 2011; 286 (32): 28456-65.
	A trafficking-deficient mutant of KCC3 reveals dominant-negative effects on K-Cl cotransport function., Ding J, Ponce-Coria J, Delpire E., PLoS One. January 1, 2013; 8 (4): e61112.
	Potassium-chloride cotransporter 3 interacts with Vav2 to synchronize the cell volume decrease response with cell protrusion dynamics., Salin-Cantegrel A, Shekarabi M, Rasheed S, Charron FM, Laganière J, Gaudet R, Dion PA, Lapointe JY, Rouleau GA., PLoS One. May 15, 2013; 8 (5): e65294.
	N-terminal serine dephosphorylation is required for KCC3 cotransporter full activation by cell swelling., Melo Z, de los Heros P, Cruz-Rangel S, Vázquez N, Bobadilla NA, Pasantes-Morales H, Alessi DR, Mercado A, Gamba G., J Biol Chem. November 1, 2013; 288 (44): 31468-76.
	SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus., Jin SC, Furey CG, Zeng X, Allocco A, Nelson-Williams C, Dong W, Karimy JK, Wang K, Ma S, Delpire E, Kahle KT., Mol Genet Genomic Med. September 1, 2019; 7 (9): e892.
	De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy., Park J, Flores BR, Scherer K, Kuepper H, Rossi M, Rupprich K, Rautenberg M, Deininger N, Weichselbaum A, Grimm A, Sturm M, Grasshoff U, Delpire E, Haack TB., J Med Genet. April 1, 2020; 57 (4): 283-288.
	Protein kinase D1 variant associated with human epilepsy and peripheral nerve hypermyelination., Omer S, Jin SC, Koumangoye R, Robert SM, Duran D, Nelson-Williams C, Huttner A, DiLuna M, Kahle KT, Delpire E., Clin Genet. August 1, 2021; 100 (2): 176-186.
	Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype., Løseth S, Høyer H, Le KM, Delpire E, Kinge E, Lande A, Hilmarsen HT, Fagerheim T, Nilssen Ø, Braathen GJ., Brain. March 1, 2023; 146 (3): 912-922.
	Advancements in the use of xenopus oocytes for modelling neurological disease for novel drug discovery., O'Connor EC, Kambara K, Bertrand D., Expert Opin Drug Discov. February 1, 2024; 19 (2): 173-187.

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