Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling - Logan, Clare V; Szabadkai, György; Sharpe, Jenny A; Parry, David A; Torelli, Silvia; Childs, Anne-Marie; Kriek, Marjolein; Phadke, Rahul; Johnson, Colin A; Roberts, Nicola Y; Bonthron, David T; Pysden, Karen A; et al. (Nature genetics, 2014)
Keywords: 13/1; 13/51; 14/34; 45/22; 45/23; 631/208/1516; 692/308/2056; 692/699/375/374; 9/74; Agriculture; Analysis of Variance; Animal Genetics and Genomics; Base Sequence; Biomedical research; Biomedicine; Calcium Channels - metabolism; Calcium Signaling - genetics; Calcium Signaling - physiology; Calcium-Binding Proteins - genetics; Calcium-Binding Proteins - metabolism; Cancer Research; Cation Transport Proteins - genetics; Cation Transport Proteins - metabolism; Cell culture; Cellular signal transduction; DNA, Complementary - genetics; Dystrophy; Exome - genetics; Extrapyramidal Tracts - pathology; Fluorescent Antibody Technique; Gene Function; Gene mutations; Genealogy; Genetic aspects; Health aspects; Histological Techniques; Human Genetics; Humans; Immunohistochemistry; Kinases; Learning Disabilities - genetics; letter; Medical research; Membrane Potential, Mitochondrial - genetics; Mitochondria; Mitochondria - metabolism; Mitochondrial Membrane Transport Proteins - genetics; Mitochondrial Membrane Transport Proteins - metabolism; Molecular Sequence Data; Movement Disorders - genetics; Muscle diseases; Muscular Diseases - genetics; Muscular dystrophy; Mutation; NMR; Nuclear magnetic resonance; Pedigree; Phenotype; Polymorphism, Single Nucleotide - genetics; Proteins; Quadriceps Muscle - pathology; Real-Time Polymerase Chain Reaction; Risk factors; Sequence Analysis, DNA; United Kingdom