Gene Locus : human-PPT1
Mode of mutation : Natural mutant
Disease : Infantile neuronal ceroid lipofuscinosis
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment : p.(Arg151Ter) c.451C>T Exon5. Das et al. (1998) demonstrated that the R151X mutation accounted for 40\% of the alleles and was associated with severe disease in homozygous state rs137852700, CM981629
| Title : Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy - Santorelli_2013_Orphanet.J.Rare.Dis_8_19 |
| Author(s) : Santorelli FM , Garavaglia B , Cardona F , Nardocci N , Bernardina BD , Sartori S , Suppiej A , Bertini E , Claps D , Battini R , Biancheri R , Filocamo M , Pezzini F , Simonati A |
| Ref : Orphanet J Rare Dis , 8 :19 , 2013 |
| Abstract : Santorelli_2013_Orphanet.J.Rare.Dis_8_19 |
| ESTHER : Santorelli_2013_Orphanet.J.Rare.Dis_8_19 |
| PubMedSearch : Santorelli_2013_Orphanet.J.Rare.Dis_8_19 |
| PubMedID: 23374165 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Atypical juvenile neuronal ceroid lipofuscinosis: A report of three cases - Setty_2013_J.Pediatr.Neurosci_8_117 |
| Author(s) : Setty G , Saleem R , Khan A , Hussain N |
| Ref : J Pediatr Neurosci , 8 :117 , 2013 |
| Abstract : Setty_2013_J.Pediatr.Neurosci_8_117 |
| ESTHER : Setty_2013_J.Pediatr.Neurosci_8_117 |
| PubMedSearch : Setty_2013_J.Pediatr.Neurosci_8_117 |
| PubMedID: 24082928 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses - Kousi_2012_Hum.Mutat_33_42 |
| Author(s) : Kousi M , Lehesjoki AE , Mole SE |
| Ref : Hum Mutat , 33 :42 , 2012 |
| Abstract : Kousi_2012_Hum.Mutat_33_42 |
| ESTHER : Kousi_2012_Hum.Mutat_33_42 |
| PubMedSearch : Kousi_2012_Hum.Mutat_33_42 |
| PubMedID: 21990111 |
| Gene_locus related to this paper: human-PPT1 |
| 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 : Dawson_2010_Biochem.Biophys.Res.Commun_395_66 |
| ESTHER : Dawson_2010_Biochem.Biophys.Res.Commun_395_66 |
| PubMedSearch : Dawson_2010_Biochem.Biophys.Res.Commun_395_66 |
| PubMedID: 20346914 |
| Gene_locus related to this paper: human-PPT1 |
| Title : An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients - Kohan_2009_Clin.Genet_76_372 |
| Author(s) : Kohan R , Cismondi IA , Kremer RD , Muller VJ , Guelbert N , Anzolini VT , Fietz MJ , Ramirez AM , Halac IN |
| Ref : Clin Genet , 76 :372 , 2009 |
| Abstract : Kohan_2009_Clin.Genet_76_372 |
| ESTHER : Kohan_2009_Clin.Genet_76_372 |
| PubMedSearch : Kohan_2009_Clin.Genet_76_372 |
| PubMedID: 19793312 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1 - |
| Author(s) : Ramadan H , Al-Din AS , Ismail A , Balen F , Varma A , Twomey A , Watts R , Jackson M , Anderson G , Green E , Mole SE |
| Ref : Neurology , 68 :387 , 2007 |
| PubMedID: 17261688 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease - van Diggelen_2001_Ann.Neurol_50_269 |
| Author(s) : van Diggelen OP , Thobois S , Tilikete C , Zabot MT , Keulemans JL , van Bunderen PA , Taschner PE , Losekoot M , Voznyi YV |
| Ref : Annals of Neurology , 50 :269 , 2001 |
| Abstract : van Diggelen_2001_Ann.Neurol_50_269 |
| ESTHER : van Diggelen_2001_Ann.Neurol_50_269 |
| PubMedSearch : van Diggelen_2001_Ann.Neurol_50_269 |
| PubMedID: 11506414 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL\;CLN1) - Salonen_2000_Hum.Mutat_15_273 |
| Author(s) : Salonen T , Jarvela I , Peltonen L , Jalanko A |
| Ref : Hum Mutat , 15 :273 , 2000 |
| Abstract : Salonen_2000_Hum.Mutat_15_273 |
| ESTHER : Salonen_2000_Hum.Mutat_15_273 |
| PubMedSearch : Salonen_2000_Hum.Mutat_15_273 |
| PubMedID: 10679943 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis - Waliany_2000_Hum.Mutat_15_206 |
| Author(s) : Waliany S , Das AK , Gaben A , Wisniewski KE , Hofmann SL |
| Ref : Hum Mutat , 15 :206 , 2000 |
| Abstract : Waliany_2000_Hum.Mutat_15_206 |
| ESTHER : Waliany_2000_Hum.Mutat_15_206 |
| PubMedSearch : Waliany_2000_Hum.Mutat_15_206 |
| PubMedID: 10649502 |
| Gene_locus related to this paper: human-PPT1 |
| Title : First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis - de Vries_1999_Prenat.Diagn_19_559 |
| Author(s) : de Vries BB , Kleijer WJ , Keulemans JL , Voznyi YV , Franken PF , Eurlings MC , Galjaard RJ , Losekoot M , Catsman-Berrevoets CE , Breuning MH , Taschner PE , van Diggelen OP |
| Ref : Prenat Diagn , 19 :559 , 1999 |
| Abstract : de Vries_1999_Prenat.Diagn_19_559 |
| ESTHER : de Vries_1999_Prenat.Diagn_19_559 |
| PubMedSearch : de Vries_1999_Prenat.Diagn_19_559 |
| PubMedID: 10416973 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland - |
| Author(s) : Munroe PB , Greene ND , Leung KY , Mole SE , Gardiner RM , Mitchison HM , Stephenson JB , Crow YJ |
| Ref : Journal of Medical Genetics , 35 :790 , 1998 |
| PubMedID: 9733046 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Mutations in the palmitoyl-protein thioesterase gene (PPT\; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits - Mitchison_1998_Hum.Mol.Genet_7_291 |
| Author(s) : Mitchison HM , Hofmann SL , Becerra CH , Munroe PB , Lake BD , Crow YJ , Stephenson JB , Williams RE , Hofman IL , Taschner PE , Martin JJ , Philippart M , Andermann E , Andermann F , Mole SE , Gardiner RM , O'Rawe AM |
| Ref : Hum Mol Genet , 7 :291 , 1998 |
| Abstract : Mitchison_1998_Hum.Mol.Genet_7_291 |
| ESTHER : Mitchison_1998_Hum.Mol.Genet_7_291 |
| PubMedSearch : Mitchison_1998_Hum.Mol.Genet_7_291 |
| PubMedID: 9425237 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S - Das_1998_J.Clin.Invest_102_361 |
| Author(s) : Das AK , Becerra CH , Yi W , Lu JY , Siakotos AN , Wisniewski KE , Hofmann SL |
| Ref : Journal of Clinical Investigation , 102 :361 , 1998 |
| Abstract : Das_1998_J.Clin.Invest_102_361 |
| ESTHER : Das_1998_J.Clin.Invest_102_361 |
| PubMedSearch : Das_1998_J.Clin.Invest_102_361 |
| PubMedID: 9664077 |
| Gene_locus related to this paper: human-PPT1 |