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PLoS ONE, ISSN 1932-6203, 2013, Volume 8, Issue 6, pp. e67963 - e67963
The SCN5A gene encodes for the α-subunit of the cardiac sodium channel NaV1.5, which is responsible for the rapid upstroke of the cardiac action potential.... 
NA+-CHANNEL | INACTIVATION | ARRHYTHMIAS | DEFECTS | MULTIDISCIPLINARY SCIENCES | ATRIAL STANDSTILL | PHENOTYPE | RESIDUE | III-IV-LINKER | EXPRESSION | CHANNELOPATHIES | Brugada Syndrome - genetics | Sarcolemma - genetics | Action Potentials - genetics | Humans | Middle Aged | Male | NAV1.5 Voltage-Gated Sodium Channel - metabolism | Heart Conduction System - abnormalities | Sodium - metabolism | Arrhythmias, Cardiac - pathology | Brugada Syndrome - metabolism | Brugada Syndrome - pathology | HEK293 Cells | Sodium Channels - metabolism | Female | NAV1.5 Voltage-Gated Sodium Channel - genetics | Cardiac Conduction System Disease | Sarcolemma - metabolism | Arrhythmias, Cardiac - genetics | Electrocardiography - methods | Arrhythmias, Cardiac - metabolism | Heart - physiopathology | Heart Conduction System - pathology | Cell Line | Heart Conduction System - metabolism | Long QT Syndrome - pathology | Long QT Syndrome - metabolism | Sarcolemma - pathology | Pedigree | Death, Sudden, Cardiac - pathology | Long QT Syndrome - genetics | Heterozygote | Sodium Channels - genetics | Sequence Deletion - genetics | Electrocardiography | Genetic aspects | Gene mutations | Cytochemistry | Genes | Electrocardiogram | Heart | Conduction | Cardiac arrhythmia | Disease | Trafficking | Action potential | Gene deletion | Inactivation | Channels | Defects | Depolarization | Proteins | Clonal deletion | Reaction kinetics | Long QT syndrome | Deletion | Sodium channels (voltage-gated) | Genetics | Cardiology | Heart diseases | EKG | Sarcolemma | Sodium channels | Deactivation | Heredity | Medicine | Hospitals | Sodium | Point mutation | Mutation | Kinetics | Index Medicus
Journal Article
Journal Article
Nature Cell Biology, ISSN 1465-7392, 09/2011, Volume 13, Issue 9, pp. 1116 - 1124
The AAA-ATPase VCP (also known as p97) cooperates with distinct cofactors to process ubiquitylated proteins in different cellular pathways(1-3). VCP missense... 
UBIQUITIN-SELECTIVE CHAPERONE | VALOSIN-CONTAINING PROTEIN | COMPLEX | FRONTOTEMPORAL DEMENTIA | CDC48/P97 | AAA-ATPASE | ENDOPLASMIC-RETICULUM | MYOPATHY | PAGET-DISEASE | P97 | CELL BIOLOGY | Humans | Valosin Containing Protein | Endosomal Sorting Complexes Required for Transport - genetics | Endosomes - metabolism | Lysosomes - metabolism | RNA Interference | Mass Spectrometry | Endosomes - ultrastructure | HEK293 Cells | Cell Cycle Proteins - genetics | Sarcolemma - metabolism | Ubiquitinated Proteins - metabolism | Muscular Diseases - metabolism | Cell Cycle Proteins - metabolism | Cells, Cultured | Endosomal Sorting Complexes Required for Transport - metabolism | Adenosine Triphosphatases - metabolism | Caveolin 1 - genetics | Rats | Muscular Diseases - pathology | Microscopy, Electron | Blotting, Western | Caveolin 1 - metabolism | Lysosomes - ultrastructure | Carrier Proteins - genetics | Animals | Carrier Proteins - metabolism | Cell Line, Tumor | Protein Binding | Luminescent Proteins - genetics | Ubiquitinated Proteins - genetics | Adenosine Triphosphatases - genetics | Muscular Diseases - genetics | Mutation | Microscopy, Fluorescence | Luminescent Proteins - metabolism | Usage | Degeneration (Pathology) | Gene mutations | Genetic aspects | Diagnosis | Research | Mass spectrometry | Health aspects | Risk factors | Index Medicus
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 4/2014, Volume 111, Issue 16, pp. 6004 - 6009
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 11/2015, Volume 125, Issue 11, pp. 4186 - 4195
Exon skipping uses antisense oligonucleotides as a treatment for genetic diseases. The antisense oligonucleotides used for exon skipping are designed to bypass... 
HEART | MEDICINE, RESEARCH & EXPERIMENTAL | MURINE SKELETAL-MUSCLE | GLYCOPROTEIN COMPLEX | GENE-EXPRESSION | BETA-SARCOGLYCAN | GAMMA-SARCOGLYCAN | MUTATIONS | DELTA-SARCOGLYCAN | SARCOGLYCAN COMPLEX | DROSOPHILA | Genetic Therapy | Muscular Dystrophy, Animal - genetics | Sequence Deletion | Diaphragm - pathology | Dystrophin-Associated Protein Complex - chemistry | Exons | Humans | Muscle, Skeletal - metabolism | Drosophila melanogaster - genetics | Muscular Dystrophy, Animal - pathology | Recombinant Fusion Proteins - metabolism | Muscular Dystrophies, Limb-Girdle - genetics | Myocardium - metabolism | Oligonucleotides, Antisense - therapeutic use | HEK293 Cells | Protein Engineering | Muscular Dystrophy, Animal - therapy | Diaphragm - metabolism | Sarcolemma - metabolism | Sarcoglycans - biosynthesis | Protein Structure, Tertiary | Oligonucleotides, Antisense - pharmacology | Muscular Dystrophies, Limb-Girdle - therapy | RNA, Messenger - genetics | Sarcoglycans - chemistry | Mice, Transgenic | Myocardium - pathology | Sarcoglycans - deficiency | Protein Interaction Mapping | Animals | Sarcoglycans - genetics | Drosophila Proteins - deficiency | Fibrosis | RNA, Messenger - chemistry | Mice | Drosophila Proteins - genetics | Muscle, Skeletal - pathology | Mutation | Codon, Nonsense - genetics | Care and treatment | Gene mutations | Genetic aspects | Genetic engineering | Health aspects | Muscular dystrophy | Methods | Membrane proteins | Genes | Rodents | Index Medicus | Abridged Index Medicus
Journal Article
Journal Article
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2008, Volume 83, Issue 6, pp. 714 - 724
We have previously reported a group of patients with congenital onset weakness associated with a deficiency of members of the syntrophin-α-dystrobrevin... 
SYNTROPHIN ISOFORMS | SKELETAL-MUSCLE | LOCALIZATION | DYSTROPHIN-GLYCOPROTEIN COMPLEX | SODIUM-CHANNELS | GENETICS & HEREDITY | MUSCULAR-DYSTROPHIES | CELL-SURFACE | ALPHA-DYSTROBREVIN | MOLECULE CONTACTIN | EXPRESSION | Haplotypes | Immunohistochemistry | Neuromuscular Junction - metabolism | Contactins | Humans | Molecular Sequence Data | Infant | Male | Muscle, Skeletal - metabolism | Case-Control Studies | Sarcomeres - pathology | Dystrophin-Associated Proteins - genetics | Dystrophin-Associated Proteins - metabolism | Contactin 1 | DNA Mutational Analysis | Base Sequence | Muscle, Skeletal - chemistry | Neuromuscular Junction - genetics | Conserved Sequence | Female | Sarcolemma - metabolism | Chromosome Breakage | Microsatellite Repeats | Genetic Linkage | Myasthenic Syndromes, Congenital - genetics | Amino Acid Sequence | Muscle, Skeletal - ultrastructure | Chromosome Mapping | Genetic Markers | Cell Adhesion Molecules, Neuronal - genetics | Myasthenic Syndromes, Congenital - metabolism | Homozygote | Sarcomeres - ultrastructure | Pedigree | Consanguinity | Chromosomes, Human, Pair 12 | Muscle, Skeletal - pathology | Mutation | Amino Acid Substitution | Cohort Studies | Analysis | Causes of | Lethal mutation | Muscle diseases | Genetic aspects | Research | Neuromuscular junction | Genetic research | Muscles | Immunoglobulins | Genetic disorders | Proteins | Musculoskeletal diseases | Congenital diseases | Genomics | Gene expression | Cell adhesion & migration | Index Medicus
Journal Article