Alternative name(s) : Ceroid lipofuscinosis, juvenile neuronal, with granular osmiophilic deposits, CLN1 gene product deficiency, vJNCL\/GROD, JNCL, INCL, Palmitoyl-protein thioesterase 1 deficiency, PPT1 deficiency, Neuronal ceroid lipofuscinosis, infantile finnish type\; NCL, Santavuori disease, Santavuori-Haltia disease, Ceroid lipofuscinosis, neuronal 1, adult
Gene_locus : human-PPT1
Mutation : 73 mutations R122W_human-PPT1 T75P_human-PPT1 D79G_human-PPT1 L219Q_human-PPT1 L10X_human-PPT1 R151X_human-PPT1 M57NfsX45_human-PPT1 G108R_human-PPT1 C45Y_human-PPT1 K55X_human-PPT1 M1I_human-PPT1 H39Q_human-PPT1 G42E_human-PPT1 Y109D_human-PPT1 M133RfsX4_human-PPT1 R164X_human-PPT1 Q177E_human-PPT1 E178V_human-PPT1 V181M_human-PPT1 E184K_human-PPT1 Y215SfsX5_human-PPT1 S241L_human-PPT1 IVS2+1G>A_human-PPT1 IVS7-2A>T_human-PPT1 Y247H_human-PPT1 G250V_human-PPT1 W296X_human-PPT1 I134T_human-PPT1 F85del_human-PPT1 G118D_human-PPT1 Q291X_human-PPT1 C46dup_human-PPT1 C152X_human-PPT1 IVS6-1G>T_human-PPT1 Q259TfsX36_human-PPT1 E260Kfs35X_human-PPT1 Q91_C96delinsF_human-PPT1 C96Y_human-PPT1 K104X_human-PPT1 Q182X_human-PPT1 L222P_human-PPT1 C152Y_human-PPT1 IVS3-3T>G_human-PPT1 IVS1-15T>G_human-PPT1 IVS3+61C>T_human-PPT1 Q91P_human-PPT1 IVS1+1G>A_human-PPT1 G42_G306delinsAKLR_human-PPT1 V228G_human-PPT1 W36C_human-PPT1 S138L_human-PPT1 L305P_human-PPT1 IVS3-4G>A_human-PPT1 H187R_human-PPT1 P189R_human-PPT1 W296R_human-PPT1 W38CfsX12_human-PPT1 IVS2-3T>C_human-PPT1 IVS3-16C>G_human-PPT1 L180PfsX9_human-PPT1 W186X_human-PPT1 IVS5+1G>A_human-PPT1 IVS5+2T>C_human-PPT1 IVS4+79A>G_human-PPT1 L7HfsX21_human-PPT1 IVS3-3T>C_human-PPT1 C6WfsX25_human-PPT1 IVS6+1G>A_human-PPT1 V181L_human-PPT1 W38X_human-PPT1 F225S_human-PPT1 E59RfsX12_human-PPT1 IVS1-2A>G_human-PPT1
Comment
Goebel (1995) provided a comprehensive review of the neuronal ceroid lipofuscinoses, possibly the most common group of neurodegenerative diseases in children. They are characterized by intralysosomal accumulations of lipopigments in either granular, curvilinear, or fingerprint patterns. These include infantile Santavuori-Haltia disease, late infantile Jansky-Bielschowsky disease (204500), late infantile form (256731), juvenile Vogt-Spielmeyer disease (or Batten disease\; 204200), and Kufs disease (204300), as well as approximately a dozen atypical variants. The clinical course is that of progressive dementia, seizures, and progressive visual failure. Using 'Batten disease' as a generic collective designation for the neuronal ceroid lipofuscinoses, Mole (1999) stated that 8 genes causing the different varieties had been identified. She posed the question of whether other genes causing these diseases remained to be identified. The genes CLN1 (PPT1) and CLN2 (204500), which are mutant in the infantile and late-infantile forms of neuronal ceroid lipofuscinosis, respectively, encode lysosomal enzymes\; the CLN3 (607042) and CLN5 (256731) genes, which are mutant in the juvenile form (Batten disease\; 204200) and Finnish-variant neuronal ceroid lipofuscinosis (256731), respectively, encode membrane-spanning proteins. Zhong et al. (2000) addressed the question of why deficiencies of lysosomal enzymes and membrane-spanning proteins produce similar clinical phenotypes and pathologic changes. They hypothesized that CLN-encoded proteins may comprise a functional pathogenic pathway in which protein associations play important roles. To test this hypothesis, they studied protein-protein interactions among the CLN1-, CLN2-, and CLN3-encoded proteins using a yeast 2-hybrid system. Results provided no evidence that CLN-encoded proteins interact with each other. NCL Mutation and Patient Database NCL<\/A>| Title : Computational and structural investigation of Palmitoyl-Protein Thioesterase 1 (PPT1) protein causing Neuronal Ceroid Lipofuscinoses (NCL) - Thirumal Kumar_2022_Adv.Protein.Chem.Struct.Biol_132_89 |
| Author(s) : Thirumal Kumar D , Shaikh N , Udhaya Kumar S , George Priya Doss C |
| Ref : Advances in Protein Chemistry Struct Biol , 132 :89 , 2022 |
| Abstract : Thirumal Kumar_2022_Adv.Protein.Chem.Struct.Biol_132_89 |
| ESTHER : Thirumal Kumar_2022_Adv.Protein.Chem.Struct.Biol_132_89 |
| PubMedSearch : Thirumal Kumar_2022_Adv.Protein.Chem.Struct.Biol_132_89 |
| PubMedID: 36088080 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Detection of Infantile Batten Disease by Tandem Mass Spectrometry Assay of PPT1 Enzyme Activity in Dried Blood Spots - Khaledi_2018_Anal.Chem_90_12168 |
| Author(s) : Khaledi H , Liu Y , Masi S , Gelb MH |
| Ref : Analytical Chemistry , 90 :12168 , 2018 |
| Abstract : Khaledi_2018_Anal.Chem_90_12168 |
| ESTHER : Khaledi_2018_Anal.Chem_90_12168 |
| PubMedSearch : Khaledi_2018_Anal.Chem_90_12168 |
| PubMedID: 30204428 |
| Gene_locus related to this paper: human-PPT1 |
| Title : BATTEN DISEASE CAUSED BY A NOVEL MUTATION IN THE PPT1 GENE - Metelitsina_2016_Retin.Cases.Brief.Rep_10_211 |
| Author(s) : Metelitsina TI , Waggoner DJ , Grassi MA |
| Ref : Retin Cases Brief Rep , 10 :211 , 2016 |
| Abstract : Metelitsina_2016_Retin.Cases.Brief.Rep_10_211 |
| ESTHER : Metelitsina_2016_Retin.Cases.Brief.Rep_10_211 |
| PubMedSearch : Metelitsina_2016_Retin.Cases.Brief.Rep_10_211 |
| PubMedID: 26510000 |
| Gene_locus related to this paper: human-PPT1 |
| Title : A girl with infantile neuronal ceroid lipofuscinosis caused by novel PPT1 mutation and paternal uniparental isodisomy of chromosome 1 - Niida_2016_Brain.Dev_38_674 |
| Author(s) : Niida Y , Yokoi A , Kuroda M , Mitani Y , Nakagawa H , Ozaki M |
| Ref : Brain Dev , 38 :674 , 2016 |
| Abstract : Niida_2016_Brain.Dev_38_674 |
| ESTHER : Niida_2016_Brain.Dev_38_674 |
| PubMedSearch : Niida_2016_Brain.Dev_38_674 |
| PubMedID: 26846731 |
| Gene_locus related to this paper: human-PPT1 |
| 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 : Sleat_2016_Gene_593_284 |
| ESTHER : Sleat_2016_Gene_593_284 |
| PubMedSearch : Sleat_2016_Gene_593_284 |
| PubMedID: 27553520 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis - Geraets_2016_Orphanet.J.Rare.Dis_11_40 |
| Author(s) : Geraets RD , Koh S , Hastings ML , Kielian T , Pearce DA , Weimer JM |
| Ref : Orphanet J Rare Dis , 11 :40 , 2016 |
| Abstract : Geraets_2016_Orphanet.J.Rare.Dis_11_40 |
| ESTHER : Geraets_2016_Orphanet.J.Rare.Dis_11_40 |
| PubMedSearch : Geraets_2016_Orphanet.J.Rare.Dis_11_40 |
| PubMedID: 27083890 |
| Title : The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina - Kohan_2015_Biochim.Biophys.Acta_1852_2301 |
| Author(s) : Kohan R , Pesaola F , Guelbert N , Pons P , Oller-Ramirez AM , Rautenberg G , Becerra A , Sims K , Xin W , Cismondi IA , Noher de Halac I |
| Ref : Biochimica & Biophysica Acta , 1852 :2301 , 2015 |
| Abstract : Kohan_2015_Biochim.Biophys.Acta_1852_2301 |
| ESTHER : Kohan_2015_Biochim.Biophys.Acta_1852_2301 |
| PubMedSearch : Kohan_2015_Biochim.Biophys.Acta_1852_2301 |
| PubMedID: 25976102 |
| Gene_locus related to this paper: human-PPT1 |
| Title : A novel c.776_777insA mutation in CLN1 leads to infantile neuronal ceroid lipofuscinosis - Miller_2013_J.Child.Neurol_28_1106 |
| Author(s) : Miller JN , Pearce DA |
| Ref : Journal of Child Neurology , 28 :1106 , 2013 |
| Abstract : Miller_2013_J.Child.Neurol_28_1106 |
| ESTHER : Miller_2013_J.Child.Neurol_28_1106 |
| PubMedSearch : Miller_2013_J.Child.Neurol_28_1106 |
| PubMedID: 23857568 |
| Gene_locus related to this paper: human-PPT1 |
| 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 : NCL diseases - clinical perspectives - Schulz_2013_Biochim.Biophys.Acta_1832_1801 |
| Author(s) : Schulz A , Kohlschutter A , Mink J , Simonati A , Williams R |
| Ref : Biochimica & Biophysica Acta , 1832 :1801 , 2013 |
| Abstract : Schulz_2013_Biochim.Biophys.Acta_1832_1801 |
| ESTHER : Schulz_2013_Biochim.Biophys.Acta_1832_1801 |
| PubMedSearch : Schulz_2013_Biochim.Biophys.Acta_1832_1801 |
| PubMedID: 23602993 |
| 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 : Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses - Warrier_2013_Biochim.Biophys.Acta_1832_1827 |
| Author(s) : Warrier V , Vieira M , Mole SE |
| Ref : Biochimica & Biophysica Acta , 1832 :1827 , 2013 |
| Abstract : Warrier_2013_Biochim.Biophys.Acta_1832_1827 |
| ESTHER : Warrier_2013_Biochim.Biophys.Acta_1832_1827 |
| PubMedSearch : Warrier_2013_Biochim.Biophys.Acta_1832_1827 |
| PubMedID: 23542453 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Human pathology in NCL - Anderson_2013_Biochim.Biophys.Acta_1832_1807 |
| Author(s) : Anderson GW , Goebel HH , Simonati A |
| Ref : Biochimica & Biophysica Acta , 1832 :1807 , 2013 |
| Abstract : Anderson_2013_Biochim.Biophys.Acta_1832_1807 |
| ESTHER : Anderson_2013_Biochim.Biophys.Acta_1832_1807 |
| PubMedSearch : Anderson_2013_Biochim.Biophys.Acta_1832_1807 |
| PubMedID: 23200925 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum - Cotman_2013_Curr.Neurol.Neurosci.Rep_13_366 |
| Author(s) : Cotman SL , Karaa A , Staropoli JF , Sims KB |
| Ref : Curr Neurol Neurosci Rep , 13 :366 , 2013 |
| Abstract : Cotman_2013_Curr.Neurol.Neurosci.Rep_13_366 |
| ESTHER : Cotman_2013_Curr.Neurol.Neurosci.Rep_13_366 |
| PubMedSearch : Cotman_2013_Curr.Neurol.Neurosci.Rep_13_366 |
| PubMedID: 23775425 |
| Title : Pathogenesis and therapies for infantile neuronal ceroid lipofuscinosis (infantile CLN1 disease) - Hawkins-Salsbury_2013_Biochim.Biophys.Acta_1832_1906 |
| Author(s) : Hawkins-Salsbury JA , Cooper JD , Sands MS |
| Ref : Biochimica & Biophysica Acta , 1832 :1906 , 2013 |
| Abstract : Hawkins-Salsbury_2013_Biochim.Biophys.Acta_1832_1906 |
| ESTHER : Hawkins-Salsbury_2013_Biochim.Biophys.Acta_1832_1906 |
| PubMedSearch : Hawkins-Salsbury_2013_Biochim.Biophys.Acta_1832_1906 |
| PubMedID: 23747979 |
| 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 : Infantile neuronal ceroid lipofuscinosis: follow-up on a Spanish series - Perez-Poyato_2012_Gene_499_297 |
| Author(s) : Perez Poyato MS , Mila Recansens M , Ferrer Abizanda I , Domingo Jimenez R , Lopez Lafuente A , Cusi Sanchez V , Rodriguez-Revenga L , Coll Rosell MJ , Gort L , Poo Arguelles P , Pineda Marfa M |
| Ref : Gene , 499 :297 , 2012 |
| Abstract : Perez-Poyato_2012_Gene_499_297 |
| ESTHER : Perez-Poyato_2012_Gene_499_297 |
| PubMedSearch : Perez-Poyato_2012_Gene_499_297 |
| PubMedID: 22387303 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses - Kohan_2011_Curr.Pharm.Biotechnol_12_867 |
| Author(s) : Kohan R , Cismondi IA , Oller-Ramirez AM , Guelbert N , Anzolini TV , Alonso G , Mole SE , de Kremer DR , de Halac NI |
| Ref : Curr Pharm Biotechnol , 12 :867 , 2011 |
| Abstract : Kohan_2011_Curr.Pharm.Biotechnol_12_867 |
| ESTHER : Kohan_2011_Curr.Pharm.Biotechnol_12_867 |
| PubMedSearch : Kohan_2011_Curr.Pharm.Biotechnol_12_867 |
| PubMedID: 21235444 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Novel human pathological mutations. Gene symbol: PPT1. Disease: neuronal ceroid lipofuscinosis, juvenile - |
| Author(s) : Mueller OT , Coovadia A |
| Ref : Hum Genet , 127 :490 , 2010 |
| PubMedID: 21491624 |
| 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 : Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations - Simonati_2009_Pediatr.Neurol_40_271 |
| Author(s) : Simonati A , Tessa A , Bernardina BD , Biancheri R , Veneselli E , Tozzi G , Bonsignore M , Grosso S , Piemonte F , Santorelli FM |
| Ref : Pediatr Neurol , 40 :271 , 2009 |
| Abstract : Simonati_2009_Pediatr.Neurol_40_271 |
| ESTHER : Simonati_2009_Pediatr.Neurol_40_271 |
| PubMedSearch : Simonati_2009_Pediatr.Neurol_40_271 |
| PubMedID: 19302939 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency - Kalviainen_2007_Eur.J.Neurol_14_369 |
| Author(s) : Kalviainen R , Eriksson K , Losekoot M , Sorri I , Harvima I , Santavuori P , Jarvela I , Autti T , Vanninen R , Salmenpera T , van Diggelen OP |
| Ref : Eur Journal of Neurology , 14 :369 , 2007 |
| Abstract : Kalviainen_2007_Eur.J.Neurol_14_369 |
| ESTHER : Kalviainen_2007_Eur.J.Neurol_14_369 |
| PubMedSearch : Kalviainen_2007_Eur.J.Neurol_14_369 |
| PubMedID: 17388982 |
| 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 : [Two novel mutations in palmitoyl-protein thioesterase gene in two Chinese babies with infantile neuronal ceroid lipofuscinosis] - Bi_2006_Zhonghua.Er.Ke.Za.Zhi_44_496 |
| Author(s) : Bi HY , Yao S , Bu DF , Wang ZX , Zhang Y , Qin J , Yang YL , Yuan Y |
| Ref : Zhonghua Er Ke Za Zhi , 44 :496 , 2006 |
| Abstract : Bi_2006_Zhonghua.Er.Ke.Za.Zhi_44_496 |
| ESTHER : Bi_2006_Zhonghua.Er.Ke.Za.Zhi_44_496 |
| PubMedSearch : Bi_2006_Zhonghua.Er.Ke.Za.Zhi_44_496 |
| PubMedID: 17044973 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis - Bonsignore_2006_Eur.J.Paediatr.Neurol_10_154 |
| Author(s) : Bonsignore M , Tessa A , Di Rosa G , Piemonte F , Dionisi-Vici C , Simonati A , Calamoneri F , Tortorella G , Santorelli FM |
| Ref : Eur J Paediatr Neurol , 10 :154 , 2006 |
| Abstract : Bonsignore_2006_Eur.J.Paediatr.Neurol_10_154 |
| ESTHER : Bonsignore_2006_Eur.J.Paediatr.Neurol_10_154 |
| PubMedSearch : Bonsignore_2006_Eur.J.Paediatr.Neurol_10_154 |
| PubMedID: 16759889 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Palmitoyl Protein Thioesterase1 (PPT1) and Tripeptidyl Peptidase-I (TPP-I) are expressed in the human saliva. A reliable and non-invasive source for the diagnosis of infantile (CLN1) and late infantile (CLN2) neuronal ceroid lipofuscinoses - |
| Author(s) : Kohan R , Noher de Halac I , Tapia Anzolini V , Cismondi A , Oller Ramirez AM , Paschini Capra A , de Kremer RD |
| Ref : Clinical Biochemistry , 38 :492 , 2005 |
| PubMedID: 15820783 |
| Gene_locus related to this paper: human-PPT1 |
| Title : [From gene to disease\; from CLN1, CLN2 and CLN3 to neuronal ceroid lipofuscinosis] - Taschner_2005_Ned.Tijdschr.Geneeskd_149_300 |
| Author(s) : Taschner PE , Losekoot M , Breuning MH , Hofman I , van Diggelen OP |
| Ref : Ned Tijdschr Geneeskd , 149 :300 , 2005 |
| Abstract : Taschner_2005_Ned.Tijdschr.Geneeskd_149_300 |
| ESTHER : Taschner_2005_Ned.Tijdschr.Geneeskd_149_300 |
| PubMedSearch : Taschner_2005_Ned.Tijdschr.Geneeskd_149_300 |
| PubMedID: 15730038 |
| Gene_locus related to this paper: human-PPT1 |
| Title : High-resolution magic angle spinning and 1H magnetic resonance spectroscopy reveal significantly altered neuronal metabolite profiles in CLN1 but not in CLN3 - Sitter_2004_J.Neurosci.Res_77_762 |
| Author(s) : Sitter B , Autti T , Tyynela J , Sonnewald U , Bathen TF , Puranen J , Santavuori P , Haltia MJ , Paetau A , Polvikoski T , Gribbestad IS , Hakkinen AM |
| Ref : Journal of Neuroscience Research , 77 :762 , 2004 |
| Abstract : Sitter_2004_J.Neurosci.Res_77_762 |
| ESTHER : Sitter_2004_J.Neurosci.Res_77_762 |
| PubMedSearch : Sitter_2004_J.Neurosci.Res_77_762 |
| PubMedID: 15352223 |
| Title : Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population - Teixeira_2003_J.Neurol_250_661 |
| Author(s) : Teixeira C , Guimaraes A , Bessa C , Ferreira MJ , Lopes L , Pinto E , Pinto R , Boustany RM , Sa Miranda MC , Ribeiro MG |
| Ref : Journal of Neurology , 250 :661 , 2003 |
| Abstract : Teixeira_2003_J.Neurol_250_661 |
| ESTHER : Teixeira_2003_J.Neurol_250_661 |
| PubMedSearch : Teixeira_2003_J.Neurol_250_661 |
| PubMedID: 12796825 |
| Gene_locus related to this paper: human-PPT1 |
| Title : A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis - Mazzei_2002_J.Neurol_249_1398 |
| Author(s) : Mazzei R , Conforti FL , Magariello A , Bravaccio C , Militerni R , Gabriele AL , Sampaolo S , Patitucci A , Di Iorio G , Muglia M , Quattrone A |
| Ref : Journal of Neurology , 249 :1398 , 2002 |
| Abstract : Mazzei_2002_J.Neurol_249_1398 |
| ESTHER : Mazzei_2002_J.Neurol_249_1398 |
| PubMedSearch : Mazzei_2002_J.Neurol_249_1398 |
| PubMedID: 12382155 |
| Gene_locus related to this paper: human-PPT1 |
| Title : New mutations in the neuronal ceroid lipofuscinosis genes - Mole_2001_Eur.J.Paediatr.Neurol_5 Suppl A_7 |
| Author(s) : Mole SE , Zhong NA , Sarpong A , Logan WP , Hofmann S , Yi W , Franken PF , van Diggelen OP , Breuning MH , Moroziewicz D , Ju W , Salonen T , Holmberg V , Jarvela I , Taschner PE |
| Ref : Eur J Paediatr Neurol , 5 Suppl A :7 , 2001 |
| Abstract : Mole_2001_Eur.J.Paediatr.Neurol_5 Suppl A_7 |
| ESTHER : Mole_2001_Eur.J.Paediatr.Neurol_5 Suppl A_7 |
| PubMedSearch : Mole_2001_Eur.J.Paediatr.Neurol_5 Suppl A_7 |
| PubMedID: 11589012 |
| 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 : Palmitoyl protein thioesterase (PPT) localizes into synaptosomes and synaptic vesicles in neurons: implications for infantile neuronal ceroid lipofuscinosis (INCL) - Lehtovirta_2001_Hum.Mol.Genet_10_69 |
| Author(s) : Lehtovirta M , Kyttala A , Eskelinen EL , Hess M , Heinonen O , Jalanko A |
| Ref : Hum Mol Genet , 10 :69 , 2001 |
| Abstract : Lehtovirta_2001_Hum.Mol.Genet_10_69 |
| ESTHER : Lehtovirta_2001_Hum.Mol.Genet_10_69 |
| PubMedSearch : Lehtovirta_2001_Hum.Mol.Genet_10_69 |
| PubMedID: 11136716 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice - Gupta_2001_Proc.Natl.Acad.Sci.U.S.A_98_13566 |
| Author(s) : Gupta P , Soyombo AA , Atashband A , Wisniewski KE , Shelton JM , Richardson JA , Hammer RE , Hofmann SL |
| Ref : Proc Natl Acad Sci U S A , 98 :13566 , 2001 |
| Abstract : Gupta_2001_Proc.Natl.Acad.Sci.U.S.A_98_13566 |
| ESTHER : Gupta_2001_Proc.Natl.Acad.Sci.U.S.A_98_13566 |
| PubMedSearch : Gupta_2001_Proc.Natl.Acad.Sci.U.S.A_98_13566 |
| PubMedID: 11717424 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis - Das_2001_Hum.Mol.Genet_10_1431 |
| Author(s) : Das AK , Lu JY , Hofmann SL |
| Ref : Hum Mol Genet , 10 :1431 , 2001 |
| Abstract : Das_2001_Hum.Mol.Genet_10_1431 |
| ESTHER : Das_2001_Hum.Mol.Genet_10_1431 |
| PubMedSearch : Das_2001_Hum.Mol.Genet_10_1431 |
| PubMedID: 11440996 |
| Gene_locus related to this paper: human-PPT1 |
| Title : The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis - Bellizzi_2000_Proc.Natl.Acad.Sci.U.S.A_97_4573 |
| Author(s) : Bellizzi JJ, 3rd , Widom J , Kemp C , Lu JY , Das AK , Hofmann SL , Clardy J |
| Ref : Proc Natl Acad Sci U S A , 97 :4573 , 2000 |
| Abstract : Bellizzi_2000_Proc.Natl.Acad.Sci.U.S.A_97_4573 |
| ESTHER : Bellizzi_2000_Proc.Natl.Acad.Sci.U.S.A_97_4573 |
| PubMedSearch : Bellizzi_2000_Proc.Natl.Acad.Sci.U.S.A_97_4573 |
| PubMedID: 10781062 |
| Gene_locus related to this paper: bovin-ppt , 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 : Expression of palmitoyl protein thioesterase in neurons. - |
| Author(s) : Heinonen O , Kyttala A , Lehmus E , Paunio T , Peltonen L , Jalanko A |
| Ref : Molec Genet Metab , 69 :123 , 2000 |
| PubMedID: |
| Gene_locus related to this paper: human-PPT1 |
| Title : CLN-encoded proteins do not interact with each other - Zhong_2000_Neurogenetics_3_41 |
| Author(s) : Zhong NA , Moroziewicz DN , Ju W , Wisniewski KE , Jurkiewicz A , Brown WT |
| Ref : Neurogenetics , 3 :41 , 2000 |
| Abstract : Zhong_2000_Neurogenetics_3_41 |
| ESTHER : Zhong_2000_Neurogenetics_3_41 |
| PubMedSearch : Zhong_2000_Neurogenetics_3_41 |
| PubMedID: 11085596 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Batten's disease: eight genes and still counting? - |
| Author(s) : Mole SE |
| Ref : Lancet , 354 :443 , 1999 |
| PubMedID: 10465165 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5 - Mole_1999_Hum.Mutat_14_199 |
| Author(s) : Mole SE , Mitchison HM , Munroe PB |
| Ref : Hum Mutat , 14 :199 , 1999 |
| Abstract : Mole_1999_Hum.Mutat_14_199 |
| ESTHER : Mole_1999_Hum.Mutat_14_199 |
| PubMedSearch : Mole_1999_Hum.Mutat_14_199 |
| PubMedID: 10477428 |
| 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 : A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants - Voznyi_1999_J.Med.Genet_36_471 |
| Author(s) : Voznyi YV , Keulemans JL , Mancini GM , Catsman-Berrevoets CE , Young E , Winchester B , Kleijer WJ , van Diggelen OP |
| Ref : Journal of Medical Genetics , 36 :471 , 1999 |
| Abstract : Voznyi_1999_J.Med.Genet_36_471 |
| ESTHER : Voznyi_1999_J.Med.Genet_36_471 |
| PubMedSearch : Voznyi_1999_J.Med.Genet_36_471 |
| PubMedID: 10874636 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Genetic heterogeneity of neuronal ceroid lipofuscinosis in The Netherlands - Taschner_1999_Mol.Genet.Metab_66_339 |
| Author(s) : Taschner PE , Franken PF , van Berkel L , Breuning MH |
| Ref : Mol Genet Metab , 66 :339 , 1999 |
| Abstract : Taschner_1999_Mol.Genet.Metab_66_339 |
| ESTHER : Taschner_1999_Mol.Genet.Metab_66_339 |
| PubMedSearch : Taschner_1999_Mol.Genet.Metab_66_339 |
| PubMedID: 10191126 |
| 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 |
| Title : A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient - Santorelli_1998_Biochem.Biophys.Res.Commun_245_519 |
| Author(s) : Santorelli FM , Bertini E , Petruzzella V , Di Capua M , Calvieri S , Gasparini P , Zeviani M |
| Ref : Biochemical & Biophysical Research Communications , 245 :519 , 1998 |
| Abstract : Santorelli_1998_Biochem.Biophys.Res.Commun_245_519 |
| ESTHER : Santorelli_1998_Biochem.Biophys.Res.Commun_245_519 |
| PubMedSearch : Santorelli_1998_Biochem.Biophys.Res.Commun_245_519 |
| PubMedID: 9571187 |
| Gene_locus related to this paper: human-PPT1 |
| Title : cDNA and genomic cloning of human palmitoyl-protein thioesterase (PPT), the enzyme defective in infantile neuronal ceroid lipofuscinosis - Schriner_1996_Genomics_34_317 |
| Author(s) : Schriner JE , Yi W , Hofmann SL |
| Ref : Genomics , 34 :317 , 1996 |
| Abstract : Schriner_1996_Genomics_34_317 |
| ESTHER : Schriner_1996_Genomics_34_317 |
| PubMedSearch : Schriner_1996_Genomics_34_317 |
| PubMedID: 8786130 |
| Gene_locus related to this paper: human-PPT1 |
| Title : MRI evaluation of the brain in infantile neuronal ceroid-lipofuscinosis. Part 2: MRI findings in 21 patients - Vanhanen_1995_J.Child.Neurol_10_444 |
| Author(s) : Vanhanen SL , Raininko R , Autti T , Santavuori P |
| Ref : Journal of Child Neurology , 10 :444 , 1995 |
| Abstract : Vanhanen_1995_J.Child.Neurol_10_444 |
| ESTHER : Vanhanen_1995_J.Child.Neurol_10_444 |
| PubMedSearch : Vanhanen_1995_J.Child.Neurol_10_444 |
| PubMedID: 8576553 |
| Gene_locus related to this paper: human-PPT1 |
| Title : The neuronal ceroid-lipofuscinoses - Goebel_1995_J.Child.Neurol_10_424 |
| Author(s) : Goebel HH |
| Ref : Journal of Child Neurology , 10 :424 , 1995 |
| Abstract : Goebel_1995_J.Child.Neurol_10_424 |
| ESTHER : Goebel_1995_J.Child.Neurol_10_424 |
| PubMedSearch : Goebel_1995_J.Child.Neurol_10_424 |
| PubMedID: 8576551 |
| 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 : Vesa_1995_Nature_376_584 |
| ESTHER : Vesa_1995_Nature_376_584 |
| 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 : Hellsten_1995_Genomics_25_404 |
| ESTHER : Hellsten_1995_Genomics_25_404 |
| PubMedSearch : Hellsten_1995_Genomics_25_404 |
| PubMedID: 7789974 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Molecular cloning and expression of palmitoyl-protein thioesterase - Camp_1994_J.Biol.Chem_269_23212 |
| Author(s) : Camp LA , Verkruyse LA , Afendis SJ , Slaughter CA , Hofmann SL |
| Ref : Journal of Biological Chemistry , 269 :23212 , 1994 |
| Abstract : Camp_1994_J.Biol.Chem_269_23212 |
| ESTHER : Camp_1994_J.Biol.Chem_269_23212 |
| PubMedSearch : Camp_1994_J.Biol.Chem_269_23212 |
| PubMedID: 7916016 |
| Gene_locus related to this paper: bovin-ppt , ratno-ppt , 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 : Hellsten_1993_Genomics_16_720 |
| ESTHER : Hellsten_1993_Genomics_16_720 |
| 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 |
| Title : Infantile neuronal ceroid lipofuscinosis (CLN1): linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus - Jarvela_1991_Genomics_10_333 |
| Author(s) : Jarvela I |
| Ref : Genomics , 10 :333 , 1991 |
| Abstract : Jarvela_1991_Genomics_10_333 |
| ESTHER : Jarvela_1991_Genomics_10_333 |
| PubMedSearch : Jarvela_1991_Genomics_10_333 |
| PubMedID: 2071142 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1 - Jarvela_1991_Genomics_9_170 |
| Author(s) : Jarvela I , Schleutker J , Haataja L , Santavuori P , Puhakka L , Manninen T , Palotie A , Sandkuijl LA , Renlund M , White R , et al. |
| Ref : Genomics , 9 :170 , 1991 |
| Abstract : Jarvela_1991_Genomics_9_170 |
| ESTHER : Jarvela_1991_Genomics_9_170 |
| PubMedSearch : Jarvela_1991_Genomics_9_170 |
| PubMedID: 1672288 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Infantile neuronal ceroid-lipofuscinosis is not an allelic form of Batten disease: exclusion of chromosome 16 region with linkage analyses - Jokiaho_1990_Genomics_8_391 |
| Author(s) : Jokiaho I , Puhakka L , Santavuori P , Manninen T , Nyman K , Peltonen L |
| Ref : Genomics , 8 :391 , 1990 |
| Abstract : Jokiaho_1990_Genomics_8_391 |
| ESTHER : Jokiaho_1990_Genomics_8_391 |
| PubMedSearch : Jokiaho_1990_Genomics_8_391 |
| PubMedID: 2249855 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Santavuori disease: diagnosis by leukocyte ultrastructure - Baumann_1982_Neurology_32_1277 |
| Author(s) : Baumann RJ , Markesbery WR |
| Ref : Neurology , 32 :1277 , 1982 |
| Abstract : Baumann_1982_Neurology_32_1277 |
| ESTHER : Baumann_1982_Neurology_32_1277 |
| PubMedSearch : Baumann_1982_Neurology_32_1277 |
| PubMedID: 6890163 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Clinical, morphological, and biochemical investigations on a patient with an unusual form of neuronal ceroid-lipofuscinosis - Becker_1979_Eur.J.Pediatr_132_197 |
| Author(s) : Becker K , Goebel HH , Svennerholm L , Wendel U , Bremer HJ |
| Ref : Eur J Pediatr , 132 :197 , 1979 |
| Abstract : Becker_1979_Eur.J.Pediatr_132_197 |
| ESTHER : Becker_1979_Eur.J.Pediatr_132_197 |
| PubMedSearch : Becker_1979_Eur.J.Pediatr_132_197 |
| PubMedID: 510322 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Infantile type of so-called neuronal ceroid-lipofuscinosis - |
| Author(s) : Santavuori P , Haltia M , Rapola J |
| Ref : Dev Med Child Neurol , 16 :644 , 1974 |
| PubMedID: 4371326 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Polyunsaturated fatty acid lipidosis infantile form of so-called neuronal ceroidlipofuscinosis - |
| Author(s) : Hagberg B , Haltia M , Sourander P , Svennerholm L , Eeg-Olofsson O |
| Ref : Acta Paediatr Scand , 63 :753 , 1974 |
| PubMedID: 4415126 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Infantile type of so-called neuronal ceroid-lipofuscinosis. 1. A clinical study of 15 patients - |
| Author(s) : Santavuori P , Haltia M , Rapola J , Raitta C |
| Ref : Journal of Neurology Sci , 18 :257 , 1973 |
| PubMedID: 4698309 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Infantile type of so-called neuronal ceroid-lipofuscinosis. 2. Morphological and biochemical studies - |
| Author(s) : Haltia M , Rapola J , Santavuori P , Keranen A |
| Ref : Journal of Neurology Sci , 18 :269 , 1973 |
| PubMedID: 4121459 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Neuronal ceroid-lipofuscinosis (Batten's disease): relationship to amaurotic family idiocy? - |
| Author(s) : Zeman W , Dyken P |
| Ref : Pediatrics , 44 :570 , 1969 |
| PubMedID: 5346636 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Late infantile progressive encephalopathy with disturbed poly-unsaturated fat metabolism - |
| Author(s) : Hagberg B , Sourander P , Svennerholm L |
| Ref : Acta Paediatr Scand , 57 :495 , 1968 |
| PubMedID: 5706364 |
| Gene_locus related to this paper: human-PPT1 |