Genomes and Genes
Gene Symbol: KCC3
Description: solute carrier family 12 (potassium/chloride transporters), member 6
Alias: ACCPN, KCC3, KCC3A, KCC3B, K-Cl cotransporter 3, electroneutral potassium-chloride cotransporter 3, potassium chloride cotransporter 3, potassium chloride cotransporter KCC3a-S3, potassium-chloride transporter-3a, potassium-chloride transporter-3b, solute carrier family 12 member 6
- Molecular cloning and functional characterization of KCC3, a new K-Cl cotransporterJ E Race
Renal Division, Department of Medicine, State University of New York Health Science Center, Syracuse 13210, New York
Am J Physiol 277:C1210-9. 1999We isolated and characterized a novel K-Cl cotransporter, KCC3, from human placenta. The deduced protein contains 1,150 amino acids...
- NH2-terminal heterogeneity in the KCC3 K+-Cl- cotransporterAdriana Mercado
Renal Division, Brigham and Women s Hospital, Boston, MA 02115, USA
Am J Physiol Renal Physiol 289:F1246-61. 2005..Two major isoforms, KCC3a and KCC3b, are generated by transcriptional initiation 5' of two distinct first coding exons...
- Axonal and periaxonal swelling precede peripheral neurodegeneration in KCC3 knockout miceNellie Byun
Neuroscience Graduate Program, Department of Anesthesiology, Vanderbilt University Medical Center, Nashville, T 4202 MCN 1161 21st Avenue South, Nasvhille, TN 37232 2520, USA
Neurobiol Dis 28:39-51. 2007..in KCC3 knockout mice, an animal model of agenesis of the corpus callosum associated with peripheral neuropathy (ACCPN) [Howard, H.C., Mount, D.B., Rochefort, D., Byun, N., Dupre, N., Lu, J., Fan, X., Song, L., Riviere, J.B...
- A deletion mutation in Slc12a6 is associated with neuromuscular disease in gaxp miceYan Jiao
Department of Orthopaedic Surgery Campbell Clinic, University of Tennessee Health Science Center, Memphis, TN 38163, USA
Genomics 91:407-14. 2008..Western blot analysis indicated that the protein product of Slc12a6, the K(+)-Cl(-) cotransporter Kcc3, was not detectable in gaxp mice...
- Insulin-like growth factor 1 stimulates KCl cotransport, which is necessary for invasion and proliferation of cervical cancer and ovarian cancer cellsMeng Ru Shen
Department of Pharmacology, College of Medicine, National Cheng Kung University, Tainan 704, Taiwan
J Biol Chem 279:40017-25. 2004..Taken together, our results indicate that KCC activation by IGF-1 plays an important role in IGF-1 signaling to promote growth and spread of gynecological cancers...
- Cation chloride cotransporters interact with the stress-related kinases Ste20-related proline-alanine-rich kinase (SPAK) and oxidative stress response 1 (OSR1)Kerstin Piechotta
Department of Anesthesiology and Center for Molecular Neuroscience, Vanderbilt University, Medical Center, Nashville, Tennessee 37232, USA
J Biol Chem 277:50812-9. 2002..Ste20-related proline-alanine-rich kinase (SPAK) and oxidative stress response 1 (OSR1) with the cotransporters KCC3, NKCC1, and NKCC2 but not KCC1 and KCC4...
- Roles of the cation-chloride cotransporters in neurological diseaseKristopher T Kahle
Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA
Nat Clin Pract Neurol 4:490-503. 2008..the Na-K-2Cl cotransporter NKCC1, which mediates chloride influx, and various K-Cl cotransporters--such as KCC2 and KCC3-that extrude chloride...
- HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3Adèle Salin-Cantegrel
Department of Medicine, Centre of Excellence in Neuromics, CHUM Research Centre, University of Montreal, Montreal, QC, Canada
Hum Mol Genet 17:2703-11. 2008The potassium-chloride co-transporter 3 (KCC3) is mutated in hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC); however, the molecular mechanisms of HMSN/ACC pathogenesis and the exact role of KCC3 in ..
- Functional analysis of a potassium-chloride co-transporter 3 (SLC12A6) promoter polymorphism leading to an additional DNA methylation siteDirk Moser
Department of Neurobehavioral Genetics, Institute of Psychobiology, University of Trier, Trier, Germany
Neuropsychopharmacology 34:458-67. 2009The human potassium-chloride co-transporter 3 (KCC3, SLC12A6) is involved in cell proliferation and in electro-neutral movement of ions across the cell membrane...
- Chloride influx provokes lamellipodium formation in microglial cellsSusanna Zierler
Department of Cell Biology, Paris Lodron University of Salzburg, Salzburg, Austria
Cell Physiol Biochem 21:55-62. 2008..in BV-2 cells included, swelling-activated chloride channels as well as the KCl cotransporters, KCC1, KCC2, KCC3, and KCC4...
- Apparent intermediate K conductance channel hyposmotic activation in human lens epithelial cellsPeter K Lauf
Cell Biophysics Group, 054 Biological Sciences Bldg, Wright State Univ Boonshoft School of Medicine, Dayton, OH 45435, USA
Am J Physiol Cell Physiol 294:C820-32. 2008..RT-PCR and immunochemistry confirmed the presence of KCa3.1 channels, aside of the KCC1, KCC2, KCC3 and KCC4 isoforms...
- K+-Cl- Cotransporter-3a Up-regulates Na+,K+-ATPase in Lipid Rafts of Gastric Luminal Parietal CellsTakuto Fujii
Department of Pharmaceutical Physiology, University of Toyama, Toyama 930 0194, Japan
J Biol Chem 283:6869-77. 2008..We found that KCC3a but not KCC3b mRNA was highly expressed, and KCC3a protein was predominantly expressed in the basolateral membrane ..
- KCl cotransporter-3 down-regulates E-cadherin/beta-catenin complex to promote epithelial-mesenchymal transitionYueh Mei Hsu
Institute of Basic Medical Sciences, Department of Pharmacology, College of Medicine, National Cheng Kung University, Tainan, Taiwan
Cancer Res 67:11064-73. 2007..Real-time reverse transcription-PCR on the samples collected from the laser microdissection indicates that KCC3 is the most abundant KCC isoform in cervical carcinoma...
- Distal truncation of KCC3 in non-French Canadian HMSN/ACC familiesA Salin-Cantegrel
Centre for the Study of Brain Diseases, CHUM Research Centre Notre Dame Hospital and the University of Montreal, Montreal, Quebec, Canada
Neurology 69:1350-5. 2007..Mutations in the potassium-chloride cotransporter 3 gene (KCC3) were identified as responsible for HMSN/ACC in the French Canadian (FC) population...
- Functional significance of channels and transporters expressed in the inner ear and kidneyFlorian Lang
Department of Physiology, Eberhard Karls University of Tubingen, Gmelinstrasse 5, Tubingen, Germany
Am J Physiol Cell Physiol 293:C1187-208. 2007..channels (KCNJ10, KCNQ1, KCNE1, and KCNMA1), Na(+)-2Cl(-)-K(+) cotransporter (SLC12A2), K(+)/Cl(-) cotransporters (KCC3 and KCC4), Cl(-) channels (BSND and CLCNKA + CLCNKB), and H(+)-ATPase (ATP6V1B1 and ATPV0A4) cause hearing loss...
- Characterization of glial cell K-Cl cotransportKenneth B E Gagnon
Cell Biophysics Group, Wright State University, Dayton, OH 4543, USA
Cell Physiol Biochem 20:121-30. 2007..The molecular mechanism of K-Cl cotransport (KCC) consists of at least 4 isoforms, KCC 1, 2, 3, and 4 which, in multiple combinations, exist in most cells, including erythrocytes and neuronal cells...
- Disruption of erythroid K-Cl cotransporters alters erythrocyte volume and partially rescues erythrocyte dehydration in SAD miceMarco B Rust
Zentrum fur Molekulare Neurobiologie Hamburg, Universitat Hamburg, Hamburg, Germany
J Clin Invest 117:1708-17. 2007..To address the roles of individual K-Cl cotransporter isoforms in rbc volume homeostasis, we disrupted the Kcc1 and Kcc3 genes in mice...
- Functional association between K+-Cl- cotransporter-4 and H+,K+-ATPase in the apical canalicular membrane of gastric parietal cellsTakuto Fujii
Department of Pharmaceutical Physiology, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan
J Biol Chem 284:619-29. 2009..In contrast, KCC1, KCC2, and KCC3 were not found in either SAV or tubulovesicles. KCC4 coimmunoprecipitated with H+,K+-ATPase in the lysate of SAV...
- K-Cl cotransporter gene expression during human and murine erythroid differentiationDao Pan
Molecular and Cell Therapy Program, Division of Experimental Hematology, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229, USA
J Biol Chem 286:30492-503. 2011..Messenger RNA for each isoform was measured by real time RT-quantitative PCR. In human reticulocytes, KCC3a mRNA levels were consistently the highest, 1-7-fold higher than KCC4, the second most abundant species...
- Sites of regulated phosphorylation that control K-Cl cotransporter activityJesse Rinehart
Department of Genetics, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06510, USA
Cell 138:525-36. 2009..We identified two sites in KCC3 that are rapidly dephosphorylated in hypotonic conditions in cultured cells and human red blood cells in parallel ..
- Function of K⁺-Cl⁻ cotransporters in the acid secretory mechanism of gastric parietal cellsTakuto Fujii
Department of Pharmaceutical Physiology, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan
Biol Pharm Bull 34:810-2. 2011..Recent our studies have demonstrated that K⁺-Cl⁻ cotransporters (KCC3a and KCC4) are expressed in gastric parietal cells...
- Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosumAdèle Salin-Cantegrel
Centre of Excellence in Neuromics, University of Montreal, Centre Hospitalier de L Universite de Montreal Research Center, Montreal, Quebec H2L 4M1, Canada
J Biol Chem 286:28456-65. 2011Missense and protein-truncating mutations of the human potassium-chloride co-transporter 3 gene (KCC3) cause hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), which is a severe neurodegenerative ..
- Volume regulation and KCl cotransport in reticulocyte populations of sickle and normal red blood cellsMaa Ohui Quarmyne
Division of Hematology, Cancer and Blood Diseases Institute, Cincinnati Children s Hospital Medical Center, USA
Blood Cells Mol Dis 47:95-9. 2011..We have shown previously that three of the four KCC genes - KCC1, KCC3, and KCC4 - are expressed in red blood cells (RBC) (Exp. Hem. 33:624, 2005)...
- Knocking down of the KCC2 in rat hippocampal neurons increases intracellular chloride concentration and compromises neuronal survivalChristophe Pellegrino
INSERM Unité 901, Marseille, 13009, France
J Physiol 589:2475-96. 2011..The reparative effects of KCC2 were mimicked by over-expression of the KCC3, a homologue transporter...
- Genetic factors underlying the risk of thalidomide-related neuropathy in patients with multiple myelomaDavid C Johnson
Institute of Cancer Research, London, UK
J Clin Oncol 29:797-804. 2011..To indentify genetic variation that can modulate and predict the risk of developing thalidomide-related peripheral neuropathy (TrPN)...
- Cellular expression of the K+-Cl- cotransporter KCC3 in the central nervous system of mouseMasoud Shekarabi
Centre of Excellence in Neuromics, CHUM Research Center and Department of Medicine, University of Montreal, Notre Dame Hospital, 1560 Sherbrooke East, De Seve Pavillion, room Y 3616 2, Montreal, QC, H2L 4M1, Canada
Brain Res 1374:15-26. 2011..Two major splice variants, KCC3a and KCC3b, were shown to be expressed in adult mouse tissues...
- The NH(2)-terminus of K(+)-Cl(-) cotransporter 3a is essential for up-regulation of Na(+),K(+)-ATPase activityTakuto Fujii
Department of Pharmaceutical Physiology, University of Toyama, Toyama 930 0194, Japan
Biochem Biophys Res Commun 399:683-7. 2010K(+)-Cl(-) cotransporter-3 has two major amino terminal variants, KCC3a and KCC3b...
- Deficiency of electroneutral K+-Cl- cotransporter 3 causes a disruption in impulse propagation along peripheral nervesYuan Ting Sun
Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan
Glia 58:1544-52. 2010..Mutation in SLC12A6 gene encoding KCC3 results in an autosomal recessive disease, known as agenesis of the corpus callosum associated with peripheral ..
- Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafishLaura Southgate
Department of Medical and Molecular Genetics, King s College London, School of Medicine, Floor 8 Tower Wing, Guy s Hospital, London, SE1 9RT, UK
Neurogenetics 11:379-89. 2010..Homozygosity mapping and direct sequencing were used to assess the ACCPN, SPG11, and SPG21 loci in four inbred kindreds originating from the Indian subcontinent...
- Mutations affecting GABAergic signaling in seizures and epilepsyAristea S Galanopoulou
Saul R Korey Department of Neurology and Dominick P Purpura Department of Neuroscience, Albert Einstein College of Medicine, 1410 Pelham Parkway South, Kennedy Center Room 306, Bronx, NY 10461, USA
Pflugers Arch 460:505-23. 2010..These include the chloride channel 2 (CLCN2) and the potassium chloride cotransporter KCC3. The pathogenic role of CLCN2 mutations has not been clearly demonstrated and may represent either susceptibility ..
- 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 geneS Rudnik-Schoneborn
Institute of Human Genetics, RWTH Aachen University, Aachen, Germany
Neuropediatrics 40:129-33. 2009..Mutation analysis of the KCC3 (SLC12A6) gene showed a compound heterozygous mutation; a maternal missense mutation c.1616G>A (p...
- Cell-type specific distribution of chloride transporters in the rat suprachiasmatic nucleusM A Belenky
Department of Cell and Developmental Biology, Institute of Life Sciences, Hebrew University of Jerusalem, Jerusalem, Israel
Neuroscience 165:1519-37. 2010..Here we report that the K(+)/Cl(-) cotransporter isoforms KCC4 and KCC3 are expressed solely in vasopressin (VP) neurons in the rat SCN whereas KCC1 is expressed in VIP neurons, similar ..
- Homooligomeric and heterooligomeric associations between K+-Cl- cotransporter isoforms and between K+-Cl- and Na+-K+-Cl- cotransportersCharles F Simard
Nephrology Research Group, L Hôtel Dieu de Québec Research Institution, Department of Medicine, Faculty of Medicine, Laval University, Quebec, Quebec G1R 2J6, Canada
J Biol Chem 282:18083-93. 2007..Through additional coimmunoprecipitation studies, we have also found that KCC1 and KCC3 had the potential of assembling into various types of CCC-CCC oligomers as well, although the interactions ..
- Functional and molecular characterization of multiple K-Cl cotransporter isoforms in corneal epithelial cellsJosé E Capó Aponte
Department of Biological Sciences, State University of New York, State College of Optometry, 33 West 42nd Street, New York, NY 10036, USA
Exp Eye Res 84:1090-103. 2007..RCEC, primary human CEC (pHCEC), and primary bovine CEC (BCEC) plasma membrane enriched fractions revealed KCC1, KCC3, and KCC4 isoform expression, whereas KCC2 was undetectable...
- PASK (proline-alanine-rich STE20-related kinase), a regulatory kinase of the Na-K-Cl cotransporter (NKCC1)Brian F X Dowd
Yale University, School of Medicine, Department of Cellular and Molecular Physiology, New Haven, Connecticut 06520 0826, USA
J Biol Chem 278:27347-53. 2003..proline-alanine-rich kinase)) and OSR1 (oxidative stress response kinase) to cation-chloride cotransporters KCC3, NKCC1, and NKCC2...
- Molecular physiology of cation-coupled Cl- cotransport: the SLC12 familySteven C Hebert
Department of Cellular and Molecular Physiology, Yale University Medical School, 333 Cedar Street, P O Box 208026, SHM B147, New Haven, CT 06520 8026, USA
Pflugers Arch 447:580-93. 2004..In addition, knockout mice for many members of this family have generated important new information regarding their respective physiological roles...
- Ammonium transport and pH regulation by K(+)-Cl(-) cotransportersMarc J Bergeron
Nephrology Group, Department of Medicine, Faculty of Medicine, Universite Laval, Quebec, Canada
Am J Physiol Renal Physiol 285:F68-78. 2003..Our results demonstrate that all of the CCCs examined (NKCC1, NKCC2, KCC1, KCC3, and KCC4) can promote NH4(+) translocation, presumably through binding of the ion at the K(+) site...
- Influence of K-Cl cotransporter activity on activation of volume-sensitive Cl- channels in human osteoblastsMargot Bräuer
Department of Applied Physiology, University of Ulm, 89081 Ulm, Germany
Am J Physiol Cell Physiol 285:C22-30. 2003....
- The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosumHeidi C Howard
Centre for Research in Neuroscience, McGill University and The Montreal General Hospital Research Institute, 1650 Cedar Ave, Montreal, Quebec H3G 1A4, Canada
Nat Genet 32:384-92. 2002Peripheral neuropathy associated with agenesis of the corpus callosum (ACCPN) is a severe sensorimotor neuropathy associated with mental retardation, dysmorphic features and complete or partial agenesis of the corpus callosum...
- K-Cl co-transport: immunocytochemical and functional evidence for more than one KCC isoform in high K and low K sheep erythrocytesP K Lauf
Department of Physiology and Biophysics, Wright State University, Dayton, OH 45435, USA
Comp Biochem Physiol A Mol Integr Physiol 130:499-509. 2001..anti-rat (rt)KCC1 antibodies against a fusion peptide with 77 amino acids from the Ctd of rtKCC1 and anti-human (h)KCC3 against an 18-aa peptide from the Ntd of hKCC3, were prepared in rabbits (rb)...
- Human and murine phenotypes associated with defects in cation-chloride cotransportEric Delpire
Department of Anesthesiology, Nashville VA Medical Center, Nashville, Tennessee 37232, USA
Annu Rev Physiol 64:803-43. 2002..cation-chloride cotransporters are positional candidates for Mendelian human disorders, and the K-Cl cotransporter KCC3, in particular, may be involved in degenerative peripheral neuropathies linked to chromosome 15q14...
- A dominant negative mutant of the KCC1 K-Cl cotransporter: both N- and C-terminal cytoplasmic domains are required for K-Cl cotransport activityS Casula
Molecular Medicine and Renal Units, Beth Israel Deaconess Medical Center, Boston, Massachusetts 02215, USA
J Biol Chem 276:41870-8. 2001..Delta(N)117 also exhibited dominant negative inhibition of human KCC1 and KCC3 and, with lower potency, mouse KCC4 and rat KCC2.
- Mutation analysis of the potassium chloride cotransporter KCC3 (SLC12A6) in rolandic and idiopathic generalized epilepsyO K Steinlein
Institute of Human Genetics, Rheinische Friedrich Wilhelms Universitat, D 53111, Bonn, Germany
Epilepsy Res 44:191-5. 2001..One of the most promising candidate genes is the brain-expressed potassium chloride cotransporter KCC3, given that this class of ion transporter has been implicated in the regulation of neuronal chloride activity...
- Localization of the K(+)-Cl(-) cotransporter, KCC3, in the central and peripheral nervous systems: expression in the choroid plexus, large neurons and white matter tractsM M Pearson
Department of Neurosurgery, Vanderbilt University Medical Center, Nashville, TN 37232, USA
Neuroscience 103:481-91. 2001..Northern blot confirmed the presence of two distinct forms of KCC3, KCC3a and KCC3b, generated by the inclusion of different first coding exons...
- Functional comparison of the K+-Cl- cotransporters KCC1 and KCC4A Mercado
Molecular Physiology Unit, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán and Instituto de Investigaciones Biomédicas, Universidad Nacional Autonoma de Mexico, Tlalpan 14000, Mexico City, Mexico
J Biol Chem 275:30326-34. 2000..cotransporter gene family and fall into two phylogenetic subgroups: KCC2 paired with KCC4 and KCC1 paired with KCC3. We report a functional comparison in Xenopus oocytes of KCC1 and KCC4, widely expressed representatives of these ..
- Cloning and characterization of KCC3 and KCC4, new members of the cation-chloride cotransporter gene familyD B Mount
Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA
J Biol Chem 274:16355-62. 1999..We have cloned cDNAs encoding mouse KCC3, human KCC3, and human KCC4, three new members of this gene family...
- Loss of K-Cl co-transporter KCC3 causes deafness, neurodegeneration and reduced seizure thresholdThomas Boettger
Zentrum für Molekulare Neurobiologie, ZMNH, Universitat Hamburg, Falkenried 94, D 20251 Hamburg, Germany
EMBO J 22:5422-34. 2003..b>KCC3, an isoform mutated in the human Anderman syndrome, is expressed in brain, epithelia and other tissues...
- Expression of K+-Cl- cotransporters in the alpha-cells of rat endocrine pancreasSarah L Davies
School of Biological Sciences and Department of Medicine, University of Manchester, G 38 Stopford Building, Manchester M13 9PT, UK
Biochim Biophys Acta 1667:7-14. 2004The expression of K+-Cl- cotransporters (KCC) was examined in pancreatic islet cells. mRNA for KCC1, KCC3a, KCC3b and KCC4 were identified by RT-PCR in islets isolated from rat pancreas...
- Molecular genetics of bipolar disorder and depressionTadafumi Kato
Laboratory for Molecular Dynamics of Mental Disorders, RIKEN Brain Science Institute, Wako, Saitama, Japan
Psychiatry Clin Neurosci 61:3-19. 2007..Finally, this report addresses some possible causes for the lack of replication in this field...
- K-Cl cotransport in red blood cells from patients with KCC3 isoform mutantsP K Lauf
Cell Biophysics Group, Department of Pathology, Wright State University, Boonshoft School of Medicine, 3640 Col Glenn Hwy, Dayton, OH 45435, USA
Biochem Cell Biol 84:1034-44. 2006..of 8 patients with hereditary motor and sensory neuropathy with agenesis of corpus callosum (HMSN-ACC) with defined KCC3 mutations (813FsX813 and Phe529FsX532) involving the truncations of 338 and 619 C-terminal amino acids, ..
- WNK4 kinase is a negative regulator of K+-Cl- cotransportersTomas Garzon-Muvdi
Molecular Physiology Unit, Vasco de Quiroga No 15, Tlalpan 14000, Mexico City, Mexico
Am J Physiol Renal Physiol 292:F1197-207. 2007..of Xenopus laevis oocytes, here we show that WNK4 inhibits the activity of the K(+)-Cl(-) cotransporters KCC1, KCC3, and KCC4 under cell swelling, a condition in which these cotransporters are maximally active...
- IGF-1 upregulates electroneutral K-Cl cotransporter KCC3 and KCC4 which are differentially required for breast cancer cell proliferation and invasivenessYueh Mei Hsu
Institute of Basic Medical Sciences, National Cheng Kung University, Tainan, Taiwan
J Cell Physiol 210:626-36. 2007..IGF-1 stimulates KCC activity of MCF-7 breast cancer cells in a dose- and time-dependent manner. Increased KCC3 and KCC4 abundances contribute to IGF-1-enhanced KCC activity...
- KCC3 and KCC4 expression in rat adult forebrainP Le Rouzic
Faculty of Life Sciences, Stopford Building, Manchester, UK
Brain Res 1110:39-45. 2006..the widespread expression of KCC1 and KCC2 throughout the brain, we now show a more restricted expression of KCC3a in the hippocampus, choroid plexus and piriform cortex, as well as KCC4 in the choroid plexus and the ..
- Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneityAlexander Lossos
Department of Neurology, Agnes Ginges Center for Human Neurogenetics, Hadassah Hebrew University Medical Center, Jerusalem 91120, Israel
Arch Neurol 63:756-60. 2006..The locus for HSP-TCC, designated SPG11, was mapped to chromosome 15q13-15 in some of the affected families from Japan, Europe, and North America, spanning an interval of 17.5 megabases (Mb)...
- Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndromeG Uyanik
Department of Neurology, University of Regensburg, Germany
Neurology 66:1044-8. 2006..The cerebral MRI reveals a variable degree of agenesis of the corpus callosum. Recently, truncating mutations of the KCC3 gene (also known as SLC12A6) have been associated with Andermann syndrome.
- Neurogenic mechanisms contribute to hypertension in mice with disruption of the K-Cl cotransporter KCC3Marco B Rust
Zentrum fur Molekulare Neurobiologie Hamburg, Universitat Hamburg, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
Circ Res 98:549-56. 2006The neurodegenerative disorder Andermann syndrome is caused by mutations of the K-Cl cotransporter KCC3. Mice with a targeted disruption of the corresponding gene, Slc12a6, reproduce neurodegeneration of the peripheral and central nervous ..
- Thin corpus callosum and amyotrophy in spastic paraplegia--case report and review of literatureBeate Winner
Department of Neurology, University of Regensburg, Regensburg, Germany
Clin Neurol Neurosurg 108:692-8. 2006..Thin CC and peripheral neuropathy often appear together in spastic paraplegia and might be indicative for combined degeneration mechanism of central and peripheral axons...
- Rare variants of the gene encoding the potassium chloride co-transporter 3 are associated with bipolar disorderJobst Meyer
Clinical and Molecular Psychobiology, Department of Psychiatry and Psychotherapy, University of Wuerzburg, Germany
Int J Neuropsychopharmacol 8:495-504. 2005..cause severe peripheral neuropathy frequently associated with agenesis of the corpus callosum and psychoses (ACCPN)...
- Chloride transport in the kidney: lessons from human disease and knockout miceThomas J Jentsch
Zentrum für Molekulare Neurobiologie ZMNH, Universitat Hamburg, Falkenried 94, D 20246 Hamburg, Germany
J Am Soc Nephrol 16:1549-61. 2005..Finally, both KCC3 and KCC4 are crucial for proximal tubular cell volume regulation.
- Regulation of K-Cl cotransport: from function to genesN C Adragna
Department of Pharmacology, Wright State University, School of Medicine, Dayton, OH 45435 0002, USA
J Membr Biol 201:109-37. 2004..A few reports indicate that the NO/cGMP/PKG signaling pathway regulates KCC1 and KCC3 mRNA expression in VSMCs at the post-transcriptional level...
- Cloning, characterization, and chromosomal location of a novel human K+-Cl- cotransporterK Hiki
Department of Human Immunology, Hanson Centre for Cancer Research, Institute of Medical and Veterinary Science and University of Adelaide, Adelaide, South Australia 5000
J Biol Chem 274:10661-7. 1999..We have referred to the predicted protein as K+-Cl- cotransporter 3 (KCC3)...
- Role of KCC3 in Schwann cell developmentNellie Byun; Fiscal Year: 2005..with mutations in the human KCC3 gene who suffer from a neurological disorder termed Andermann syndrome, or ACCPN. Both show myelination abnormalities in peripheral nerves, e.g...
- Molecular Physiology of Renal K-Cl CotransportersDavid Mount; Fiscal Year: 2007..tubule, isotonic swelling induced by apical Na absorption activates basolateral K+ -Cl- cotransport mediated by KCC3 and KCC4, implicating these transporters in proximal re-absorption of filtered Na+-Cl- and other solutes...
- MOLECULAR PHYSIOLOGY OF RENAL K+/ CL- COTRANSPORTERSDavid Mount; Fiscal Year: 2003..Subsequently the principal investigator has cloned two completely new co-transporters KCC3 and KCC4...
- Proteomics of M-L antigens modulating cation transportPETER LAUF; Fiscal Year: 2004....
- Third Symposium Cell Volume & Signalling RegulationPETER LAUF; Fiscal Year: 2003..This meeting's success on U.S. soil will foster continuation of gathering of high-caliber scientists at subsequent international meetings ..
- STRUCTURE AND FUNCTION OF ROMK CHANNEL IN KIDNEYSteven Hebert; Fiscal Year: 2004..g., mechanism for continued renal K+ loss and role of prostaglandin E2 in renal NaC1 and K+ wasting) and may best be addressed using an animal model. ..
- Cellular and Molecular Physiology of Organ FunctionEMILE BOULPAEP; Fiscal Year: 2007....
- STRUCTURE AND FUNCTION OF ROMK CHANNEL IN KIDNEYSteven Hebert; Fiscal Year: 2007..These mice will also provide a resource for others interested in ROMK function in non- renal cells (Gl tract, brain, etc). ..
- REGULATION OF THE NA+ COUPLED CL- COTRANSPORTERSSteven Hebert; Fiscal Year: 2004..This has important relevance to understanding salt and water handling by the kidney in health and disease. ..