Title : Mice with Ppt1Deltaex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons - Jalanko_2005_Neurobiol.Dis_18_226 |
Author(s) : Jalanko A , Vesa J , Manninen T , von Schantz C , Minye H , Fabritius AL , Salonen T , Rapola J , Gentile M , Kopra O , Peltonen L |
Ref : Neurobiol Dis , 18 :226 , 2005 |
Abstract : |
PubMedSearch : Jalanko_2005_Neurobiol.Dis_18_226 |
PubMedID: 15649713 |
Gene_locus related to this paper: mouse-ppt |
Title : Human palmitoyl protein thioesterase: evidence for lysosomal targeting of the enzyme and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis - Hellsten_1996_Embo.j_15_5240 |
Author(s) : Hellsten E , Vesa J , Olkkonen VM , Jalanko A , Peltonen L |
Ref : EMBO j , 15 :5240 , 1996 |
Abstract : |
PubMedSearch : Hellsten_1996_Embo.j_15_5240 |
PubMedID: 8895569 |
Gene_locus related to this paper: human-PPT1 |
Title : Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis - Vesa_1995_Nature_376_584 |
Author(s) : Vesa J , Hellsten E , Verkruyse LA , Camp LA , Rapola J , Santavuori P , Hofmann SL , Peltonen L |
Ref : Nature , 376 :584 , 1995 |
Abstract : |
PubMedSearch : Vesa_1995_Nature_376_584 |
PubMedID: 7637805 |
Gene_locus related to this paper: human-PPT1 |
Title : Identification of YAC clones for human chromosome 1p32 and physical mapping of the infantile neuronal ceroid lipofuscinosis (INCL) locus - Hellsten_1995_Genomics_25_404 |
Author(s) : Hellsten E , Vesa J , Heiskanen M , Makela TP , Jarvela I , Cowell JK , Mead S , Alitalo K , Palotie A , Peltonen L |
Ref : Genomics , 25 :404 , 1995 |
Abstract : |
PubMedSearch : Hellsten_1995_Genomics_25_404 |
PubMedID: 7789974 |
Gene_locus related to this paper: human-PPT1 |
Title : Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis - Hellsten_1993_Genomics_16_720 |
Author(s) : Hellsten E , Vesa J , Speer MC , Makela TP , Jarvela I , Alitalo K , Ott J , Peltonen L |
Ref : Genomics , 16 :720 , 1993 |
Abstract : |
PubMedSearch : Hellsten_1993_Genomics_16_720 |
PubMedID: 8325646 |
Gene_locus related to this paper: human-PPT1 |
Title : Assignment of the infantile form of neuronal ceroid lipofuscinosis (INCL, CLN1) to the short arm of chromosome 1 (Abstract) - |
Author(s) : Jarvela I , Santavuori P , Vesa J , Rapola J , Palotie A , Peltonen L |
Ref : Cytogenet Cell Genet , 58 :1856 , 1991 |
PubMedID: |
Gene_locus related to this paper: human-PPT1 |