Gene Locus : ratno-3neur
Mode of mutation : site directed mutagenesis
Disease :
Summary : Intracellular retention Defect in protein processing Comoletti_2004_J.Neurosci_24_4889
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : 388
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
a truncation (stop codon inserted at position 692) was introduced for interaction studies
| Title : Neuroligin trafficking deficiencies arising from mutations in the alpha\/beta-hydrolase fold protein family - De Jaco_2010_J.Biol.Chem_285_28674 |
| Author(s) : De Jaco A , Lin MZ , Dubi N , Comoletti D , Miller MT , Camp S , Ellisman M , Butko MT , Tsien RY , Taylor P |
| Ref : Journal of Biological Chemistry , 285 :28674 , 2010 |
| Abstract : |
| PubMedSearch : De Jaco_2010_J.Biol.Chem_285_28674 |
| PubMedID: 20615874 |
| Gene_locus related to this paper: ratno-3neur , ratno-1neur |
| Title : Gene selection, alternative splicing, and post-translational processing regulate neuroligin selectivity for beta-neurexins - Comoletti_2006_Biochemistry_45_12816 |
| Author(s) : Comoletti D , Flynn RE , Boucard AA , Demeler B , Schirf V , Shi J , Jennings LL , Newlin HR , Sudhof TC , Taylor P |
| Ref : Biochemistry , 45 :12816 , 2006 |
| Abstract : |
| PubMedSearch : Comoletti_2006_Biochemistry_45_12816 |
| PubMedID: 17042500 |
| Title : The Arg451Cys-neuroligin-3 mutation associated with autism reveals a defect in protein processing - Comoletti_2004_J.Neurosci_24_4889 |
| Author(s) : Comoletti D , De Jaco A , Jennings LL , Flynn RE , Gaietta G , Tsigelny I , Ellisman MH , Taylor P |
| Ref : Journal of Neuroscience , 24 :4889 , 2004 |
| Abstract : |
| PubMedSearch : Comoletti_2004_J.Neurosci_24_4889 |
| PubMedID: 15152050 |