Functional Characterization of a Novel KCNJ11 in Frame Mutation-Deletion Associated with Infancy-Onset Diabetes and a Mild Form of Intermediate DEND: A Battle between KATP Gain of Channel Activity and Loss of Channel Expression

PLoS ONE

Volumn 8, Issue 5, 2013, Pages

  Lin, Yu Wen ^a   Li, Anlong ^a   Grasso, Valeria ^b   Battaglia, Domenica ^c   Crinò, Antonino ^d   Colombo, Carlo ^b   Barbetti, Fabrizio ^b   Nichols, Colin G ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF ROME TOR VERGATA   (Italy)

^c CATHOLIC UNIVERSITY   (Italy)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE (POTASSIUM); INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; PLASMID DNA;

ARTICLE; CHANNEL GATING; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; ENZYME ACTIVITY; ENZYME INHIBITION; EPILEPSY; FRAMESHIFT MUTATION; GAIN OF FUNCTION MUTATION; GENE EXPRESSION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; INDEL MUTATION; INSULIN DEPENDENT DIABETES MELLITUS; KCNJ11 GENE; MEMBRANE ELECTROPHYSIOLOGY; MISSENSE MUTATION; MOLECULAR BIOLOGY; MOLECULAR GENETICS; POINT MUTATION; PROTEIN EXPRESSION; WESTERN BLOTTING;

ADENOSINE TRIPHOSPHATE; AGE OF ONSET; ANIMALS; CERCOPITHECUS AETHIOPS; CHILD; COS CELLS; DIABETES MELLITUS; EPILEPSY; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; ION CHANNEL GATING; MALE; MICE; MODELS, MOLECULAR; MUTANT PROTEINS; PATCH-CLAMP TECHNIQUES; POTASSIUM CHANNELS, INWARDLY RECTIFYING; PROTEIN MULTIMERIZATION; PROTEIN SUBUNITS; PSYCHOMOTOR DISORDERS; SEQUENCE DELETION; STRUCTURAL HOMOLOGY, PROTEIN;

EID: 84877157563     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0063758     Document Type: Article

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