| Title : Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I - Walus_2010_Hum.Mutat_31_710 |
| Author(s) : Walus M , Kida E , Golabek AA |
| Ref : Hum Mutat , 31 :710 , 2010 |
| Abstract : |
| PubMedSearch : Walus_2010_Hum.Mutat_31_710 |
| PubMedID: 20340139 |
| Title : A critical tryptophan and Ca2+ in activation and catalysis of TPPI, the enzyme deficient in classic late-infantile neuronal ceroid lipofuscinosis - Kuizon_2010_PLoS.One_5_e11929 |
| Author(s) : Kuizon S , DiMaiuta K , Walus M , Jenkins EC, Jr. , Kuizon M , Kida E , Golabek AA , Espinoza DO , Pullarkat RK , Junaid MA |
| Ref : PLoS ONE , 5 :e11929 , 2010 |
| Abstract : |
| PubMedSearch : Kuizon_2010_PLoS.One_5_e11929 |
| PubMedID: 20689811 |
| Title : Cellular pathology and pathogenic aspects of neuronal ceroid lipofuscinoses - Kida_2001_Adv.Genet_45_35 |
| Author(s) : Kida E , Golabek AA , Wisniewski KE |
| Ref : Adv Genet , 45 :35 , 2001 |
| Abstract : |
| PubMedSearch : Kida_2001_Adv.Genet_45_35 |
| PubMedID: 11332776 |