| Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype. | 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., Free PMC Article | 03/9/2023 |
| Novel heterozygous variants of SLC12A6 in Japanese families with Charcot-Marie-Tooth disease. | Novel heterozygous variants of SLC12A6 in Japanese families with Charcot-Marie-Tooth disease.
Ando M, Higuchi Y, Yuan J, Yoshimura A, Taniguchi T, Takei J, Takeuchi M, Hiramatsu Y, Shimizu F, Kubota M, Takeshima A, Ueda T, Koh K, Nagaoka U, Tokashiki T, Sawai S, Sakiyama Y, Hashiguchi A, Sato R, Kanda T, Okamoto Y, Takashima H., Free PMC Article | 07/16/2022 |
| ZnR/GPR39 controls cell migration by orchestrating recruitment of KCC3 into protrusions, re-organization of actin and activation of MMP. | ZnR/GPR39 controls cell migration by orchestrating recruitment of KCC3 into protrusions, re-organization of actin and activation of MMP.
Chakraborty M, Asraf H, Sekler I, Hershfinkel M. | 09/25/2021 |
| De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy. | 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., Free PMC Article | 02/6/2021 |
| SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus. | 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., Free PMC Article | 06/20/2020 |
| AS may also occur in the Roma population with a new mutation being found: frameshift mutation c.2604delT in the exon 20 of the SLC12A6 gene. Roma patients with probable AS should be primarily tested for this mutation. | First case of Roma ethnic origin with Andermann syndrome: A novel frameshift mutation in exon 20 of SLC12A6 gene.
Pacheva I, Todorov T, Halil Z, Yordanova R, Todorova A, Geneva I, Galabova F, Ivanov I. | 06/13/2020 |
| we present the first Mexican patients with hereditary motor and sensory neuropathy with agenesis of the corpus callosum and a novel heterozygous frameshift variant, c.2097du p or p.(Trp700Leufs*19) of the SLC12A6 gene | Identification of a novel SLC12A6 pathogenic variant associated with hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) in a non-French-Canadian family.
Rius R, González-Del Angel A, Velázquez-Aragón JA, Cordero-Guzmán LM, Muñoz-Hernández SE, Alcántara-Ortigoza MA. | 09/28/2019 |
| Neurodegenerative deficits in hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum are primarily caused by an axonopathy superimposed upon abnormal development, affecting peripheral but also central nervous system axons, all ultimately because of a genetic defect in the axonal cotransporter KCC3. | KCC3 axonopathy: neuropathological features in the central and peripheral nervous system.
Auer RN, Laganière JL, Robitaille YO, Richardson J, Dion PA, Rouleau GA, Shekarabi M. | 01/27/2018 |
| These results suggest that the function of the peripheral nervous system depends on finely tuned, kinase-regulated KCC3 activity and implicate abnormal cell volume homeostasis as a previously unreported mechanism of axonal degeneration. | Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter.
Kahle KT, Flores B, Bharucha-Goebel D, Zhang J, Donkervoort S, Hegde M, Hussain G, Duran D, Liang B, Sun D, Bönnemann CG, Delpire E., Free PMC Article | 11/25/2017 |
| These results suggest that the expression of KCC3 in ESCC may affect cellular invasion and be related to a worse prognosis in patients with ESCC. | The K-Cl cotransporter KCC3 as an independent prognostic factor in human esophageal squamous cell carcinoma.
Shiozaki A, Takemoto K, Ichikawa D, Fujiwara H, Konishi H, Kosuga T, Komatsu S, Okamoto K, Kishimoto M, Marunaka Y, Otsuji E., Free PMC Article | 04/11/2015 |
| SPAK may promote KCC3-mediated cervix tumor aggressiveness via the NF-kappaB/p38 MAPK/MMP2 axis. | SPAK mediates KCC3-enhanced cervical cancer tumorigenesis.
Chiu MH, Liu HS, Wu YH, Shen MR, Chou CY. | 08/16/2014 |
| SLC12A6 has been shown to be causative in Andermann Syndrome. | A new patient with Andermann syndrome: an underdiagnosed clinical genetics entity?
Degerliyurt A, Akgumus G, Caglar C, Bilguvar K, Caglayan AO. | 01/18/2014 |
| serine residue 96 of human KCC3 is a third site that has to be dephosphorylated for full activation of the cotransporter during hypotonicity. | 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., Free PMC Article | 01/4/2014 |
| mis-trafficking of mutant protein is an important pathophysiological feature of HMSN/ACC causative KCC3 mutations. | 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., Free PMC Article | 05/12/2012 |
| Neuropathic features of hereditary motor and sensory neuropathy/agenesis of corpus callosum in transgenic mouse lines are predominantly due to a neuronal KCC3 deficit, while the auditory impairment is due to loss of non-neuronal KCC3 expression. | Loss of neuronal potassium/chloride cotransporter 3 (KCC3) is responsible for the degenerative phenotype in a conditional mouse model of hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum.
Shekarabi M, Moldrich RX, Rasheed S, Salin-Cantegrel A, Laganière J, Rochefort D, Hince P, Huot K, Gaudet R, Kurniawan N, Sotocinal SG, Ritchie J, Dion PA, Mogil JS, Richards LJ, Rouleau GA., Free PMC Article | 05/5/2012 |
| The Wnk3 protein isoforms have a similar effect on SLC12 cotransporters. NKCC1/2 and NCC were inhibited, even in hypertonicity, while KCCs were activated, even in isotonic conditions. | Similar effects of all WNK3 variants on SLC12 cotransporters.
Cruz-Rangel S, Melo Z, Vázquez N, Meade P, Bobadilla NA, Pasantes-Morales H, Gamba G, Mercado A. | 01/7/2012 |
| KCC3 is the dominant isoform in erythrocytes, with variable expression of KCC1 and KCC4 that could result in modulation of KCC activity | K-Cl cotransporter gene expression during human and murine erythroid differentiation.
Pan D, Kalfa TA, Wang D, Risinger M, Crable S, Ottlinger A, Chandra S, Mount DB, Hübner CA, Franco RS, Joiner CH., Free PMC Article | 10/29/2011 |
| mutations of the KCC3 gene may result in non-syndromic childhood onset of demyelinating hereditary motor and sensory neuropathy | Andermann syndrome can be a phenocopy of hereditary motor and sensory neuropathy--report of a discordant sibship with a compound heterozygous mutation of the KCC3 gene.
Rudnik-Schöneborn S, Hehr U, von Kalle T, Bornemann A, Winkler J, Zerres K. | 05/3/2010 |
| Study identified two sites in KCC3 that are rapidly dephosphorylated in hypotonic conditions in cultured cells and human red blood cells in parallel with increased transport activity. | Sites of regulated phosphorylation that control K-Cl cotransporter activity.
Rinehart J, Maksimova YD, Tanis JE, Stone KL, Hodson CA, Zhang J, Risinger M, Pan W, Wu D, Colangelo CM, Forbush B, Joiner CH, Gulcicek EE, Gallagher PG, Lifton RP., Free PMC Article | 01/21/2010 |
| study provides evidence that the upstream SLC12A6 G/A promoter SNP is functional not only by changing the DNA primary structure but also by influencing the allelic epigenotype and consequently by influencing the chromatin organization | Functional analysis of a potassium-chloride co-transporter 3 (SLC12A6) promoter polymorphism leading to an additional DNA methylation site.
Moser D, Ekawardhani S, Kumsta R, Palmason H, Bock C, Athanassiadou Z, Lesch KP, Meyer J. | 01/21/2010 |
| Using a yeast 2-hybrid it was discovered that the C-terminal domain of KCC3, that is lost in most hereditary motor and sensory neuropathy with agenesis of the corpus callosum-causing mutations, directly interacts with brain-specific creatine kinase. | 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. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesA common variant in DRD3 receptor is associated with autism spectrum disorder.
de Krom M, Staal WG, Ophoff RA, Hendriks J, Buitelaar J, Franke B, de Jonge MV, Bolton P, Collier D, Curran S, van Engeland H, van Ree JM. Rare variants of the gene encoding the potassium chloride co-transporter 3 are associated with bipolar disorder.
Meyer J, Johannssen K, Freitag CM, Schraut K, Teuber I, Hahner A, Mainhardt C, Mössner R, Volz HP, Wienker TF, McKeane D, Stephan DA, Rouleau G, Reif A, Lesch KP. | 03/13/2008 |
| KCC3 down-regulates E-cadherin/beta-catenin complex formation by inhibiting transcription of E-cadherin gene and accelerating proteosome-dependent degradation of beta-catenin protein | KCl cotransporter-3 down-regulates E-cadherin/beta-catenin complex to promote epithelial-mesenchymal transition.
Hsu YM, Chen YF, Chou CY, Tang MJ, Chen JH, Wilkins RJ, Ellory JC, Shen MR. | 01/21/2010 |
| KCC3 mutations in exon 22 constitute a recurrent mutation site for hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), regardless of ethnic origin. | 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. | 01/21/2010 |
| human osteoblasts express functional K-Cl cotransporters in their cell membrane that seem to be able to induce the indirect activation of volume-sensitive Cl- channels by KCl through an increase in the intracellular ions, water influx and cell swelling. | Influence of K-Cl cotransporter activity on activation of volume-sensitive Cl- channels in human osteoblasts.
Bräuer M, Frei E, Claes L, Grissmer S, Jäger H. | 01/21/2010 |