Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling

Journal of Clinical Investigation

Volumn 125, Issue 4, 2015, Pages 1670-1678

  Baker, Kate ^a   Gordon, Sarah L ^b   Grozeva, Detelina ^a   Van Kogelenberg, Margriet ^c   Roberts, Nicola Y ^a   Pike, Michael ^d   Blair, Edward ^e   Hurles, Matthew E ^c   Chong, W Kling ^f   Baldeweg, Torsten ^g   Kurian, Manju A ^f,g   Boyd, Stewart G ^g   Cousin, Michael A ^b   Raymond, F Lucy ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b UNIVERSITY OF EDINBURGH   (United Kingdom)

^c WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^d OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^e CHURCHILL HOSPITAL   (United Kingdom)

^f GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^g UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN; SYNAPTOTAGMIN I; CALCIUM; HYBRID PROTEIN; SYT1 PROTEIN, HUMAN;

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; CASE REPORT; CELL CYCLE; CELL FUSION; CELL KINETICS; CHILD; CHOREA; CLINICAL FEATURE; CONTROLLED STUDY; DYSTONIA; ELECTROENCEPHALOGRAM; ENDOCYTOSIS; EVOKED AUDITORY RESPONSE; EVOKED VISUAL RESPONSE; EXOCYTOSIS; EXOME; GENE SEQUENCE; HUMAN; HYPERKINESIA; INFANT; INTELLECTUAL IMPAIRMENT; MALE; MISSENSE MUTATION; MOUSE; NERVE ENDING; NEWBORN; NONHUMAN; PRIMARY CELL CULTURE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; RAT; SYNAPSE VESICLE; SYNAPTIC VESICLE CYCLING; WILD TYPE MOUSE; AMINO ACID SEQUENCE; ANIMAL; CELL CULTURE; COMPARATIVE STUDY; CYTOLOGY; DOMINANT GENE; GENETICS; HIPPOCAMPUS; KINETICS; MEMBRANE FUSION; METABOLISM; MOLECULAR GENETICS; MOTOR DYSFUNCTION; PHYSIOLOGY; POINT MUTATION; PSYCHOMOTOR DISORDER; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY; VISUAL EVOKED POTENTIAL;

AMINO ACID SEQUENCE; ANIMALS; CALCIUM; CELLS, CULTURED; CHILD; ENDOCYTOSIS; EVOKED POTENTIALS, VISUAL; EXOCYTOSIS; GENES, DOMINANT; HIPPOCAMPUS; HUMANS; INTELLECTUAL DISABILITY; KINETICS; MALE; MEMBRANE FUSION; MICE; MOLECULAR SEQUENCE DATA; MOTOR SKILLS DISORDERS; MOVEMENT DISORDERS; MUTATION, MISSENSE; POINT MUTATION; PRESYNAPTIC TERMINALS; RATS; RECOMBINANT FUSION PROTEINS; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID; SYNAPTIC VESICLES; SYNAPTOTAGMIN I;

EID: 84926328757     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI79765     Document Type: Article

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