Genomic and cDNA clones encoding a novel Shaw-related potassium channel gene have been isolated from mice and humans. The mouse-Kv3.3 gene encodes a protein of 679 amino acids. Unlike the vertebrate Shaker-related genes that have intronless coding regions, mouse Kv3.3 is encoded by at least two exons separated by 3 kb of intervening sequence. The amino-terminal 212 amino acids are encoded by a single exon, and the hydrophobic core of the protein beginning at the S1 transmembrane segment is contained in a separate exon. Multiple Kv3.3-hybridizing transcripts are visible in the mouse brain, liver, thymus, and heart. Using probes derived from a human genomic clone containing the 3' exon of human Kv3.3 (KCNC3), we have localized the gene to human chromosome 19. The related gene, human Kv3.4 (KCNC4), was localized to human chromosome 1.
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http://dx.doi.org/10.1016/0888-7543(92)90365-y | DOI Listing |
Neurology
May 2022
From the Departments of Neurology and Epileptology (N.S., S.S., U.B.S.H., H.L., Y.W.) and Neurodegenerative Diseases (E.L.), Hertie-Institute for Clinical Brain Research, University of Tübingen; Institute of Clinical Molecular Biology (M.P., I.H.), Christian-Albrechts-University of Kiel; Departments of Neuropediatrics (M.P., A.V.R., H.M., I.H.) and Pediatrics I (A.V.R.), University Medical Center Schleswig-Holstein, Christian-Albrechts-University, Kiel; Cologne Center for Genomics (T.B., D.L.), University of Cologne, Germany; Epilepsy Center SEIN (P.B.A.), Heemstede, the Netherlands; Epilepsiezentrum Bodensee (H.B.), Weissenau, Germany; Department of Genetics and Precision Medicine (A.B.), Danish Epilepsy Centre, Dianalund, Denmark; IRCCS Istituti delle Scienze Neurologiche di Bologna (F.B., L.L., R.M., P.T.); Department of Biomedical and Neuromotor Sciences (F.B., L.L., P.T.), University of Bologna, Italy; Department of Biomedical Sciences (R.J.B.), Cooper Medical School of Rowan University, Camden, NJ; Pediatric Neurology Unit (B.Z.B., G.H.), Edmond and Lily Safra Children's Hospital, Chaim Sheba Medical Center, Ramat Gan; Sackler School of Medicine (B.Z.B., G.H.), Tel Aviv University, Israel; FutureNeuro SFI Research Centre (M.G.D., H.K.) and Department of Neurology, Beaumont Hospital (M.G.D., H.K.), Royal College of Surgeons in Ireland; StAR MD Programme (M.G.D.), Royal College of Surgeons in Ireland in collaboration with Blackrock Clinic, Dublin, Ireland; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, and Department of Neuroscience (R.G., A.V.), A. Meyer Children's Hospital, University of Florence; IRCCS Istituto Giannina Gaslini (M.I., P. Striano), Genova, Italy; Epilepsy Center Frankfurt Rhine-Main, Department of Neurology (K.M.K., P.S.R., F. Rosenow), University Hospital Frankfurt; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe-University Frankfurt, Germany; Departments of Clinical Neurosciences, Medical Genetics, and Community Health Sciences (K.M.K.), Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Department of Neurobiology and Epilepsy Center (I.K., S.S.P.), The Cyprus Institute of Neurology and Genetics, Nicosia; Institute of Experimental Epileptology and Cognition Research and Department of Epileptology (W.S.K.), University of Bonn, Germany; Division of Medical Genetics, Department of Pediatrics (M.M., S.M.), Duke University, Durham, NC; CeGaT GmbH and Praxis für Humangenetik Tübingen (L.M.), Germany; Division Biomedical Genetics (R.O.), University Medical Center Utrecht, the Netherlands; The Genomic Unit, Sheba Cancer Research Center (B.O.), Cancer Research Center, Wohl Institute for Translational Medicine (B.O.), and The Institute for Rare Diseases, The Edmond and Lily Safra Children's Hospital (A.R.), Sheba Medical Center, Tel Hashomer, Israel; Medical School (S.S.P.), University of Nicosia, Cyprus; Department of Pediatric Neuroscience (F. Ragona, T.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Member of the ERN EpiCARE, Milan, Italy; Sheba Medical Center, Tel-Hashomer; Sackler Faculty of Medicine (A.R.), Tel Aviv University, Israel; Departments of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health (P. Scudieri, P. Striano, F. Zara), University of Genova, Italy; Clinical Genetics and Genomics Department (G.A.T.), The Cyprus Institute of Neurology and Genetics, Nicosia; Department of Neurology (F. Zahnert), Epilepsy Center Hessen, Philipps-University Marburg, Germany; Division of Neurology (E.M.G., I.H.), The Epilepsy NeuroGenetics Initiative (ENGIN) (E.M.G., I.H.), and Department of Biomedical and Health Informatics (DBHi) (I.H.), Children's Hospital of Philadelphia, PA; Epilepsy Center, Neurological Institute (D.L.), and Genomic Medicine Institute, Lerner Research Institute (D.L.), Cleveland Clinic, OH; Stanley Center for Psychiatric Research (D.L.), The Broad Institute of Harvard and MIT, Cambridge, MA; Analytic and Translational Genetics Unit (D.L.), Massachusetts General Hospital, Boston; Luxembourg Centre for Systems Biomedicine (P.M.), University Luxembourg; Department of Neurology (I.H.), Perelman School of Medicine, University of Pennsylvania, PA; and Department of Epileptology and Neurology (Y.W.), University of Aachen, Germany.
Mol Med Rep
April 2018
Department of Aesthetic, Plastic and Burn Surgery, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, Shandong 250021, P.R. China.
MicroRNAs (miRNA) are considered to be potential therapeutic targets for the treatment of various cardiovascular diseases (CVDs). To understand the underlying mechanism of miRNAs and target genes associated with CVD, deep sequencing of blood samples from three patients with CVD and three controls was performed using the Illumina HiSeq 2000 system. The results of the present study revealed that 65 abnormal hsa‑miRNAs targeted 2,784 putative genes in patients with CVD; 59 upregulated miRNAs targeted 2,401 genes and six downregulated miRNAs targeted 383 genes.
View Article and Find Full Text PDFJ Neuroimmunol
August 2016
Laboratorio de Neurología, Instituto de Investigación Sanitaria La Fe, Hospital Universitario y Politécnico La Fe, CIBERER, Valencia, Spain; Servicio de Neurología, Hospital Universitario y Politécnico La Fe, Valencia, Spain. Electronic address:
We aimed to identify new cell-membrane antigens implicated in opsoclonus-myoclonus with neuroblastoma. The sera of 3 out of 14 patients showed IgG electron-microscopy immunogold reactivity on SH-SY5Y neuroblastoma cells. Immunoprecipitation experiments using rat brain synaptosomes and SH-SY5Y cells led to the identification of: (1) thirty-one nuclear/cytoplasmic proteins (including antigens HuB, HuC); (2) seven neuronal membrane proteins, including the Shaw-potassium channel Kv3.
View Article and Find Full Text PDFBiochem Pharmacol
May 2012
Laboratory of Toxicology, Katholieke Universiteit Leuven, Onderwijs & Navorsing II, Herestraat 49, Leuven, Belgium.
Given their medical importance, most attention has been paid toward the venom composition of scorpions of the Buthidae family. Nevertheless, research has shown that the venom of scorpions of other families is also a remarkable source of unique peptidyl toxins. The κ-KTx family of voltage-gated potassium channel (VGPC) scorpion toxins is hereof an example.
View Article and Find Full Text PDFJ Chem Neuroanat
September 2011
Institute of Membrane and Systems Biology, Faculty of Biological Sciences, University of Leeds, Leeds, LS2 9JT, UK.
GABAergic interneurones, including those within spinal dorsal horn, contain one of the two isoforms of the synthesizing enzyme glutamate decarboxylase (GAD), either GAD65 or GAD67. The physiological significance of these two GABAergic phenotypes is unknown but a more detailed anatomical and functional characterization may help resolve this issue. In this study, two transgenic Green Fluorescent Protein (GFP) knock-in murine lines, namely GAD65-GFP and GAD67-GFP (Δneo) mice, were used to profile expression of Shaw-related Kv3.
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