| pubmed-article:21441247 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:21441247 | lifeskim:mentions | umls-concept:C0004352 | lld:lifeskim |
| pubmed-article:21441247 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:21441247 | lifeskim:mentions | umls-concept:C0014547 | lld:lifeskim |
| pubmed-article:21441247 | lifeskim:mentions | umls-concept:C0542341 | lld:lifeskim |
| pubmed-article:21441247 | lifeskim:mentions | umls-concept:C0221099 | lld:lifeskim |
| pubmed-article:21441247 | lifeskim:mentions | umls-concept:C1420543 | lld:lifeskim |
| pubmed-article:21441247 | lifeskim:mentions | umls-concept:C1524003 | lld:lifeskim |
| pubmed-article:21441247 | pubmed:issue | 12 | lld:pubmed |
| pubmed-article:21441247 | pubmed:dateCreated | 2011-5-23 | lld:pubmed |
| pubmed-article:21441247 | pubmed:abstractText | Several genes predisposing to autism spectrum disorders (ASDs) with or without epilepsy have been identified, many of which are implicated in synaptic function. Here we report a Q555X mutation in synapsin 1 (SYN1), an X-linked gene encoding for a neuron-specific phosphoprotein implicated in the regulation of neurotransmitter release and synaptogenesis. This nonsense mutation was found in all affected individuals from a large French-Canadian family segregating epilepsy and ASDs. Additional mutations in SYN1 (A51G, A550T and T567A) were found in 1.0 and 3.5% of French-Canadian individuals with autism and epilepsy, respectively. The majority of these SYN1 mutations were clustered in the proline-rich D-domain which is substrate of multiple protein kinases. When expressed in synapsin I (SynI) knockout (KO) neurons, all the D-domain mutants failed in rescuing the impairment in the size and trafficking of synaptic vesicle pools, whereas the wild-type human SynI fully reverted the KO phenotype. Moreover, the nonsense Q555X mutation had a dramatic impact on phosphorylation by MAPK/Erk and neurite outgrowth, whereas the missense A550T and T567A mutants displayed impaired targeting to nerve terminals. These results demonstrate that SYN1 is a novel predisposing gene to ASDs, in addition to epilepsy, and strengthen the hypothesis that a disturbance of synaptic homeostasis underlies the pathogenesis of both diseases. | lld:pubmed |
| pubmed-article:21441247 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:21441247 | pubmed:language | eng | lld:pubmed |
| pubmed-article:21441247 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:21441247 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:21441247 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:21441247 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:21441247 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:21441247 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:21441247 | pubmed:month | Jun | lld:pubmed |
| pubmed-article:21441247 | pubmed:issn | 1460-2083 | lld:pubmed |
| pubmed-article:21441247 | pubmed:author | pubmed-author:RouleauGuy... | lld:pubmed |
| pubmed-article:21441247 | pubmed:author | pubmed-author:ValtortaFlavi... | lld:pubmed |
| pubmed-article:21441247 | pubmed:author | pubmed-author:BenfenatiFabi... | lld:pubmed |
| pubmed-article:21441247 | pubmed:author | pubmed-author:FassioAnnaA | lld:pubmed |
| pubmed-article:21441247 | pubmed:author | pubmed-author:CossettePatri... | lld:pubmed |
| pubmed-article:21441247 | pubmed:author | pubmed-author:MottronLauren... | lld:pubmed |
| pubmed-article:21441247 | pubmed:author | pubmed-author:OnofriFrancoF | lld:pubmed |
| pubmed-article:21441247 | pubmed:author | pubmed-author:GauthierJulie... | lld:pubmed |
| pubmed-article:21441247 | pubmed:author | pubmed-author:PozziDavideD | lld:pubmed |
| pubmed-article:21441247 | pubmed:author | pubmed-author:CorradiAnnaA | lld:pubmed |
| pubmed-article:21441247 | pubmed:author | pubmed-author:MelocheCaroli... | lld:pubmed |
| pubmed-article:21441247 | pubmed:author | pubmed-author:BaldelliPietr... | lld:pubmed |
| pubmed-article:21441247 | pubmed:author | pubmed-author:St-OngeJudith... | lld:pubmed |
| pubmed-article:21441247 | pubmed:author | pubmed-author:DefranchiEnri... | lld:pubmed |
| pubmed-article:21441247 | pubmed:author | pubmed-author:CongiaSoniaS | lld:pubmed |
| pubmed-article:21441247 | pubmed:author | pubmed-author:MessaMirkoM | lld:pubmed |
| pubmed-article:21441247 | pubmed:author | pubmed-author:LapointeLineL | lld:pubmed |
| pubmed-article:21441247 | pubmed:author | pubmed-author:PatryLysanneL | lld:pubmed |
| pubmed-article:21441247 | pubmed:author | pubmed-author:PitonAmelieA | lld:pubmed |
| pubmed-article:21441247 | pubmed:author | pubmed-author:FaddaManuelaM | lld:pubmed |
| pubmed-article:21441247 | pubmed:author | pubmed-author:Khoa... | lld:pubmed |
| pubmed-article:21441247 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:21441247 | pubmed:day | 15 | lld:pubmed |
| pubmed-article:21441247 | pubmed:volume | 20 | lld:pubmed |
| pubmed-article:21441247 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:21441247 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:21441247 | pubmed:pagination | 2297-307 | lld:pubmed |
| pubmed-article:21441247 | pubmed:meshHeading | pubmed-meshheading:21441247... | lld:pubmed |
| pubmed-article:21441247 | pubmed:meshHeading | pubmed-meshheading:21441247... | lld:pubmed |
| pubmed-article:21441247 | pubmed:meshHeading | pubmed-meshheading:21441247... | lld:pubmed |
| pubmed-article:21441247 | pubmed:meshHeading | pubmed-meshheading:21441247... | lld:pubmed |
| pubmed-article:21441247 | pubmed:meshHeading | pubmed-meshheading:21441247... | lld:pubmed |
| pubmed-article:21441247 | pubmed:meshHeading | pubmed-meshheading:21441247... | lld:pubmed |
| pubmed-article:21441247 | pubmed:meshHeading | pubmed-meshheading:21441247... | lld:pubmed |
| pubmed-article:21441247 | pubmed:meshHeading | pubmed-meshheading:21441247... | lld:pubmed |
| pubmed-article:21441247 | pubmed:meshHeading | pubmed-meshheading:21441247... | lld:pubmed |
| pubmed-article:21441247 | pubmed:meshHeading | pubmed-meshheading:21441247... | lld:pubmed |
| pubmed-article:21441247 | pubmed:meshHeading | pubmed-meshheading:21441247... | lld:pubmed |
| pubmed-article:21441247 | pubmed:meshHeading | pubmed-meshheading:21441247... | lld:pubmed |
| pubmed-article:21441247 | pubmed:meshHeading | pubmed-meshheading:21441247... | lld:pubmed |
| pubmed-article:21441247 | pubmed:meshHeading | pubmed-meshheading:21441247... | lld:pubmed |
| pubmed-article:21441247 | pubmed:meshHeading | pubmed-meshheading:21441247... | lld:pubmed |
| pubmed-article:21441247 | pubmed:meshHeading | pubmed-meshheading:21441247... | lld:pubmed |
| pubmed-article:21441247 | pubmed:meshHeading | pubmed-meshheading:21441247... | lld:pubmed |
| pubmed-article:21441247 | pubmed:meshHeading | pubmed-meshheading:21441247... | lld:pubmed |
| pubmed-article:21441247 | pubmed:meshHeading | pubmed-meshheading:21441247... | lld:pubmed |
| pubmed-article:21441247 | pubmed:meshHeading | pubmed-meshheading:21441247... | lld:pubmed |
| pubmed-article:21441247 | pubmed:meshHeading | pubmed-meshheading:21441247... | lld:pubmed |
| pubmed-article:21441247 | pubmed:meshHeading | pubmed-meshheading:21441247... | lld:pubmed |
| pubmed-article:21441247 | pubmed:year | 2011 | lld:pubmed |
| pubmed-article:21441247 | pubmed:articleTitle | SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function. | lld:pubmed |
| pubmed-article:21441247 | pubmed:affiliation | Department of Experimental Medicine, National Institute of Neuroscience, University of Genova, Viale Benedetto XV 3, 16132 Genova, Italy. | lld:pubmed |
| pubmed-article:21441247 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:21441247 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:6853 | entrezgene:pubmed | pubmed-article:21441247 | lld:entrezgene |
| entrez-gene:20964 | entrezgene:pubmed | pubmed-article:21441247 | lld:entrezgene |
| http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:21441247 | lld:entrezgene |
