| Title : Neuronal ceroid lipofuscinosis with DNAJC5\/CSPalpha mutation has PPT1 pathology and exhibit aberrant protein palmitoylation - Henderson_2016_Acta.Neuropathol_131_621 |
| Author(s) : Henderson MX , Wirak GS , Zhang YQ , Dai F , Ginsberg SD , Dolzhanskaya N , Staropoli JF , Nijssen PC , Lam TT , Roth AF , Davis NG , Dawson G , Velinov M , Chandra SS |
| Ref : Acta Neuropathologica , 131 :621 , 2016 |
| Abstract : |
| PubMedSearch : Henderson_2016_Acta.Neuropathol_131_621 |
| PubMedID: 26659577 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing - Jiang_2013_Am.J.Hum.Genet_93_249 |
| Author(s) : Jiang YH , Yuen RK , Jin X , Wang M , Chen N , Wu X , Ju J , Mei J , Shi Y , He M , Wang G , Liang J , Wang Z , Cao D , Carter MT , Chrysler C , Drmic IE , Howe JL , Lau L , Marshall CR , Merico D , Nalpathamkalam T , Thiruvahindrapuram B , Thompson A , Uddin M , Walker S , Luo J , Anagnostou E , Zwaigenbaum L , Ring RH , Wang J , Lajonchere C , Shih A , Szatmari P , Yang H , Dawson G , Li Y , Scherer SW |
| Ref : American Journal of Human Genetics , 93 :249 , 2013 |
| Abstract : |
| PubMedSearch : Jiang_2013_Am.J.Hum.Genet_93_249 |
| PubMedID: 23849776 |
| Gene_locus related to this paper: human-NLGN3 |
| Title : Palmitoyl:protein thioesterase (PPT1) inhibitors can act as pharmacological chaperones in infantile Batten disease - Dawson_2010_Biochem.Biophys.Res.Commun_395_66 |
| Author(s) : Dawson G , Schroeder C , Dawson PE |
| Ref : Biochemical & Biophysical Research Communications , 395 :66 , 2010 |
| Abstract : |
| PubMedSearch : Dawson_2010_Biochem.Biophys.Res.Commun_395_66 |
| PubMedID: 20346914 |
| Gene_locus related to this paper: human-PPT1 |