| Title : Analysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis - Sleat_2016_Gene_593_284 |
| Author(s) : Sleat DE , Gedvilaite E , Zhang Y , Lobel P , Xing J |
| Ref : Gene , 593 :284 , 2016 |
| Abstract : |
| PubMedSearch : Sleat_2016_Gene_593_284 |
| PubMedID: 27553520 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis - Sleat_2008_Mol.Genet.Metab_94_222 |
| Author(s) : Sleat DE , El-Banna M , Sohar I , Kim KH , Dobrenis K , Walkley SU , Lobel P |
| Ref : Mol Genet Metab , 94 :222 , 2008 |
| Abstract : |
| PubMedSearch : Sleat_2008_Mol.Genet.Metab_94_222 |
| PubMedID: 18343701 |
| Title : Rat brain contains high levels of mannose-6-phosphorylated glycoproteins including lysosomal enzymes and palmitoyl-protein thioesterase, an enzyme implicated in infantile neuronal lipofuscinosis - Sleat_1996_J.Biol.Chem_271_19191 |
| Author(s) : Sleat DE , Sohar I , Lackland H , Majercak J , Lobel P |
| Ref : Journal of Biological Chemistry , 271 :19191 , 1996 |
| Abstract : |
| PubMedSearch : Sleat_1996_J.Biol.Chem_271_19191 |
| PubMedID: 8702598 |
| Gene_locus related to this paper: human-PPT1 |