Hamartin variants that are frequent in focal dysplasias and cortical tubers have reduced tuberin binding and aberrant subcellular distribution in vitro

Journal of Neuropathology and Experimental Neurology

Volumn 68, Issue 10, 2009, Pages 1136-1146

  Lugnier, Céline ^a   Majores, Michael ^a   Fassunke, Jana ^a   Pernhorst, Katharina ^a   Niehusmann, Pitt ^a   Simon, Matthias ^a   Nellist, Mark ^b   Schoch, Susanne ^a   Becker, Albert ^a  

^a UNIVERSITY HOSPITAL BONN   (Germany)

^b ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Amino acid exchange; Hamartin; Insulin receptor signaling pathway; MTOR; Subcellular distribution; Tuberin.

Indexed keywords

HAMARTIN; TUBERIN;

ADULT; ARTICLE; BRAIN DAMAGE; CELLULAR DISTRIBUTION; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CORTICAL DYSPLASIA; CYTOPLASM; FEMALE; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOCYTOCHEMISTRY; IMMUNOPRECIPITATION; IN VITRO STUDY; INFANT; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PROTEIN INTERACTION; SCHOOL CHILD; TUBEROUS SCLEROSIS; WILD TYPE;

ADOLESCENT; ADULT; BRAIN; CELL LINE; CELL NUCLEUS; CHILD; CHILD, PRESCHOOL; CYTOPLASM; FEMALE; GENETIC VARIATION; HUMANS; INFANT; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; TUMOR SUPPRESSOR PROTEINS; YOUNG ADULT;

EID: 70349737898     PISSN: 00223069     EISSN: None     Source Type: Journal    
DOI: 10.1097/NEN.0b013e3181b9a699     Document Type: Article

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