Trisomy for synaptojanin1 in down syndrome is functionally linked to the enlargement of early endosomes

Human Molecular Genetics

Volumn 21, Issue 14, 2012, Pages 3156-3172

  Cossec, Jack Christophe ^a   Lavaur, Jérémie ^a   Berman, Diego E ^b   Rivals, Isabelle ^c   Hoischen, Alexander ^d   Stora, Samantha ^e   Ripoll, Clémentine ^f   Mircher, Clotilde ^e   Grattau, Yann ^e   Olivomarin, Jean Christophe ^g   De chaumont, Fabrice ^g   Lecourtois, Magalie ^h   Antonarakis, Stylianos E ⁱ   Veltman, Joris A ^d   Delabar, Jean M ^f   Duyckaerts, Charles ^a   Di paolo, Gilbert ^b   Potier, Marie Claude ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b NewYork Presbyterian Hospital   (United States)

^c PSL RESEARCH UNIVERSITY   (France)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e Institut Jerome Lejeune   (France)

^f UNIVERSITÉ PARIS DESCARTES   (France)

^g CNRS   (France)

^h INSERM   (France)

ⁱ UNIVERSITY OF GENEVA   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID PRECURSOR PROTEIN; SYNAPTOJANIN; SYNAPTOJANIN 1; UNCLASSIFIED DRUG;

ALZHEIMER DISEASE; ANIMAL EXPERIMENT; ARTICLE; CONTROLLED STUDY; DOWN SYNDROME; ENDOSOME; FIBROBLAST; GENE EXPRESSION; GENE OVEREXPRESSION; GENE SILENCING; GENOTYPE; HUMAN; HUMAN CELL; LYMPHOBLASTOID CELL LINE; MALE; MONONUCLEAR CELL; MOUSE; NEUROBLASTOMA CELL; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; RNA INTERFERENCE; TRISOMY; TRISOMY 21;

ANIMALS; CELL LINE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 21; DOWN SYNDROME; ENDOSOMES; HUMANS; MICE; MICE, TRANSGENIC; NERVE TISSUE PROTEINS; PHOSPHORIC MONOESTER HYDROLASES; TRISOMY;

MUS MUSCULUS;

EID: 84864018180     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds142     Document Type: Article

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