Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes.
Cossec JC, Lavaur J, Berman DE, Rivals I, Hoischen A, Stora S, Ripoll C, Mircher C, Grattau Y, Olivomarin JC, de Chaumont F, Lecourtois M, Antonarakis SE, Veltman JA, Delabar JM, Duyckaerts C, Di Paolo G, Potier MC.
Cossec JC, et al. Among authors: rivals i.
Hum Mol Genet. 2012 Jul 15;21(14):3156-72. doi: 10.1093/hmg/dds142. Epub 2012 Apr 17.
Hum Mol Genet. 2012.
PMID: 22511594
Free PMC article.