Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation

Human Molecular Genetics

Volumn 21, Issue 21, 2012, Pages 4761-4773

  Falivelli, Giulia ^a,c   De jaco, Antonella ^d,e   Favaloro, Flores Lietta ^d   Kim, Hyuck ^f,g   Wilson, Jennifer ^a   Dubi, Noga ^a   Ellisman, Mark H ^b   Abrahams, Brett S ^h   Taylor, Palmer ^a   Comoletti, Davide ^a,f,g  

^a San Diego   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF BOLOGNA   (Italy)

^d SAPIENZA UNIVERSITY OF ROME   (Italy)

^e SAPIENZA UNIVERSITY OF ROME   (Italy)

^f CHILD HEALTH INSTITUTE OF NEW JERSEY   (United States)

^g ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

^h ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVATING TRANSCRIPTION FACTOR 6; CALNEXIN; CONTACTIN ASSOCIATED PROTEIN LIKE 2; GLUCOSE REGULATED PROTEIN 78; MUTANT PROTEIN; PROTEIN D1129H; UNCLASSIFIED DRUG;

ARTICLE; AUTISM; CELL STRAIN HEK293; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; GENETIC VARIABILITY; HIPPOCAMPUS; HUMAN; HUMAN CELL; OLIGOMERIZATION; PRIORITY JOURNAL; PROTEIN DEGRADATION; SIGNAL TRANSDUCTION; UNFOLDED PROTEIN RESPONSE; WILD TYPE;

ACTIVATING TRANSCRIPTION FACTOR 6; CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; ENDOPLASMIC RETICULUM; GENE EXPRESSION REGULATION; HEK293 CELLS; HIPPOCAMPUS; HUMANS; MEMBRANE PROTEINS; NERVE TISSUE PROTEINS; NEURONS; POINT MUTATION; PROTEIN FOLDING; PROTEIN TRANSPORT; SIGNAL TRANSDUCTION; UNFOLDED PROTEIN RESPONSE;

EID: 84867837982     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds320     Document Type: Article

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