Common exonic missense variants in the C2 domain of the human KIBRA protein modify lipid binding and cognitive performance

Translational Psychiatry

Volumn 3, Issue , 2013, Pages

  Duning, K ^a   Wennmann, D O ^a   Bokemeyer, A ^a   Reissner, C ^b   Wersching, H ^b   Thomas, C ^a   Buschert, J ^a   Guske, K ^a   Franzke, V ^a   Floel A ^a,f   Lohmann, H ^a   Knecht, S ^a   Brand, S M ^b   Poter M ^c   Rescher, U ^c   Missler, M ^b   Seelheim, P ^b   Propper C ^d   Boeckers, T M ^d   Makuch, L ^e   Huganir, R ^e   Weide, T ^a   Brand, E ^a   Pavenstadt H ^a   Kremerskothen, J ^a   more..

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^b UNIVERSITY OF MÜNSTER   (Germany)

^c INST OF REPRO MED OF THE UNIV   (Germany)

^d UNIVERSITY OF ULM   (Germany)

^e JOHNS HOPKINS UNIVERSITY   (United States)

^f CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

C2 domain; human cognition; KIBRA; membrane binding; phosphatidylinositols

Indexed keywords

KIBRA PROTEIN; LIPID BINDING PROTEIN; PHOSPHATIDYLINOSITOL; PROTEIN DERIVATIVE; UNCLASSIFIED DRUG; PHOSPHOPROTEIN; SIGNAL PEPTIDE; WWC1 PROTEIN, HUMAN;

ADULT; ALZHEIMER DISEASE; ARTICLE; COGNITION; EPISODIC MEMORY; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; SINGLE NUCLEOTIDE POLYMORPHISM; EXON; GENETICS; GENOTYPE; LIPID METABOLISM; METABOLISM; MIDDLE AGED; NEUROPSYCHOLOGICAL TEST; PHYSIOLOGY;

COGNITION; EXONS; FEMALE; GENOTYPE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LINKAGE DISEQUILIBRIUM; LIPID METABOLISM; MALE; MIDDLE AGED; MUTATION, MISSENSE; NEUROPSYCHOLOGICAL TESTS; PHOSPHATIDYLINOSITOLS; PHOSPHOPROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84879895312     PISSN: None     EISSN: 21583188     Source Type: Journal    
DOI: 10.1038/tp.2013.49     Document Type: Article

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