human-PPT1

Homo sapiens (Human) palmitoyl-protein thioesterase (PPT)

Comment

Palmitoyl-protein thioesterase (PPT1) is a small glycoprotein that removes palmitate groups from cysteine residues in lipid-modified proteins. PPT is thought to be involved in the catabolism of lipid-modified proteins (Camp et al., 1994).The genes PPT1 and CLN2 (607998), which are mutant in Infantile neuronal ceroid lipofuscinosis. Insensitive to commonly used serine-modifying reagents phenylmethylsulfonyl fluoride (PMSF) and diisopropylfluorophosphate. See paper of structure of bovine enzyme 1EXW (Das et al. 2000) NCL Mutation and Patient Database NCL<\/A>

Relationship

Family : Palmitoyl-protein_thioesterase

Block : X

Position in NCBI Life Tree : Homo sapiens

(Below N is a link to NCBI taxonomic web page and E link to ESTHER at designed phylum.)

> cellular organisms N E > Eukaryota N E > Opisthokonta N E > Metazoa N E > Eumetazoa N E > Bilateria N E > Deuterostomia N E > Chordata N E > Craniata N E > Vertebrata N E > Gnathostomata N E > Teleostomi N E > Euteleostomi N E > Sarcopterygii N E > Dipnotetrapodomorpha N E > Tetrapoda N E > Amniota N E > Mammalia N E > Theria N E > Eutheria N E > Boreoeutheria N E > Euarchontoglires N E > Primates N E > Haplorrhini N E > Simiiformes N E > Catarrhini N E > Hominoidea N E > Hominidae N E > Homininae N E > Homo N E > Homo sapiens N E

Molecular evidence

No mutation

No kinetic

No substrate

Sequence

Peptide

MASPGCLWLL AVALLPWTCA SRALQHLDPP APLPLVIWHG MGDSCCNPLS MGAIKKMVEK KIPGIYVLSL EIGKTLMEDV ENSFFLNVNS QVTTVCQALA KDPKLQQGYN AMGFSQGGQF LRAVAQRCPS PPMINLISVG GQHQGVFGLP RCPGESSHIC DFIRKTLNAG AYSKVVQERL VQAEYWHDPI KEDVYRNHSI FLADINQERG INESYKKNLM ALKKFVMVKF LNDSIVDPVD SEWFGFYRSG QAKETIPLQE TSLYTQDRLG LKEMDNAGQL VFLATEGDHL QLSEEWFYAH IIPFLG

References (85)

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
PubMedID: 36088080
Gene_locus related to this paper: human-PPT1

Title : Depalmitoylation by Palmitoyl-Protein Thioesterase 1 in Neuronal Health and Degeneration - Koster_2019_Front.Synaptic.Neurosci_11_25
Author(s) : Koster KP , Yoshii A
Ref : Front Synaptic Neurosci , 11 :25 , 2019
PubMedID: 31555119
Gene_locus related to this paper: human-PPT1

Title : Human leukocytes differentially express endocannabinoid-glycerol lipases and hydrolyze 2-arachidonoyl-glycerol and its metabolites from the 15-lipoxygenase and cyclooxygenase pathways - Turcotte_2019_J.Leukoc.Biol_106_1337
Author(s) : Turcotte C , Dumais E , Archambault AS , Martin C , Blanchet MR , Bissonnette E , Boulet LP , Laviolette M , Di Marzo V , Flamand N
Ref : J Leukoc Biol , 106 :1337 , 2019
PubMedID: 31556464
Gene_locus related to this paper: human-ABHD6 , human-ABHD12 , human-ABHD16A , human-CES1 , human-LYPLA2 , 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
PubMedID: 30204428
Gene_locus related to this paper: human-PPT1

Title : The Networks of Genes Encoding Palmitoylated Proteins in Axonal and Synaptic Compartments Are Affected in PPT1 Overexpressing Neuronal-Like Cells - Pezzini_2017_Front.Mol.Neurosci_10_266
Author(s) : Pezzini F , Bianchi M , Benfatto S , Griggio F , Doccini S , Carrozzo R , Dapkunas A , Delledonne M , Santorelli FM , Lalowski MM , Simonati A
Ref : Front Mol Neurosci , 10 :266 , 2017
PubMedID: 28878621
Gene_locus related to this paper: human-PPT1

Title : Neuronal ceroid lipofuscinosis with DNAJC5\/CSPalpha mutation has PPT1 pathology and exhibit aberrant protein palmitoylation - Henderson_2016_Acta.Neuropathol_131_621
Author(s) : Henderson MX , Wirak GS , Zhang YQ , Dai F , Ginsberg SD , Dolzhanskaya N , Staropoli JF , Nijssen PC , Lam TT , Roth AF , Davis NG , Dawson G , Velinov M , Chandra SS
Ref : Acta Neuropathologica , 131 :621 , 2016
PubMedID: 26659577
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
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
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
PubMedID: 27553520
Gene_locus related to this paper: human-PPT1

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
PubMedID: 25976102
Gene_locus related to this paper: human-PPT1

Title : Proteomic analysis of the palmitoyl protein thioesterase 1 interactome in SH-SY5Y human neuroblastoma cells - Scifo_2015_J.Proteomics_123_42
Author(s) : Scifo E , Szwajda A , Soliymani R , Pezzini F , Bianchi M , Dapkunas A , Debski J , Uusi-Rauva K , Dadlez M , Gingras AC , Tyynela J , Simonati A , Jalanko A , Baumann MH , Lalowski M
Ref : J Proteomics , 123 :42 , 2015
PubMedID: 25865307
Gene_locus related to this paper: human-PPT1

Title : Quantitative analysis of PPT1 interactome in human neuroblastoma cells - Scifo_2015_Data.Brief_4_207
Author(s) : Scifo E , Szwajda A , Soliymani R , Pezzini F , Bianchi M , Dapkunas A , Debski J , Uusi-Rauva K , Dadlez M , Gingras AC , Tyynela J , Simonati A , Jalanko A , Baumann MH , Lalowski M
Ref : Data Brief , 4 :207 , 2015
PubMedID: 26217791
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
PubMedID: 23200925
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
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
PubMedID: 23374165
Gene_locus related to this paper: human-PPT1

Title : Identification of palmitoyl protein thioesterase 1 in human THP1 monocytes and macrophages and characterization of unique biochemical activities for this enzyme - Wang_2013_Biochemistry_52_7559
Author(s) : Wang R , Borazjani A , Matthews AT , Mangum LC , Edelmann MJ , Ross MK
Ref : Biochemistry , 52 :7559 , 2013
PubMedID: 24083319
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
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
PubMedID: 23542453
Gene_locus related to this paper: human-PPT1

Title : Novel neuroimaging finding in palmitoyl protein thioesterase-1-related neuronal ceroid lipofuscinosis - Kamate_2012_Pediatr.Neurol_46_325
Author(s) : Kamate M , Hattiholi V
Ref : Pediatr Neurol , 46 :325 , 2012
PubMedID: 22520356
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
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
PubMedID: 22387303
Gene_locus related to this paper: human-PPT1

Title : Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function - Getty_2011_Cell.Mol.Life.Sci_68_453
Author(s) : Getty AL , Pearce DA
Ref : Cell Mol Life Sciences , 68 :453 , 2011
PubMedID: 20680390
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
PubMedID: 21235444
Gene_locus related to this paper: human-PPT1

Title : Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients - Perez-Poyato_2011_J.Inherit.Metab.Dis_34_1083
Author(s) : Perez-Poyato MS , Mila Recansens M , Ferrer Abizanda I , Montero Sanchez R , Rodriguez-Revenga L , Cusi Sanchez V , Garcia Gonzalez MM , Domingo Jimenez R , Camino Leon R , Velazquez Fragua R , Martinez-Bermejo A , Pineda Marfa M
Ref : J Inherit Metab Dis , 34 :1083 , 2011
PubMedID: 21499717
Gene_locus related to this paper: human-PPT1

Title : Involvement of the mitochondrial compartment in human NCL fibroblasts - Pezzini_2011_Biochem.Biophys.Res.Commun_416_159
Author(s) : Pezzini F , Gismondi F , Tessa A , Tonin P , Carrozzo R , Mole SE , Santorelli FM , Simonati A
Ref : Biochemical & Biophysical Research Communications , 416 :159 , 2011
PubMedID: 22100646
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 : Structural basis of neuronal ceroid lipofuscinosis 1 - Ohno_2010_Brain.Dev_32_524
Author(s) : Ohno K , Saito S , Sugawara K , Suzuki T , Togawa T , Sakuraba H
Ref : Brain Dev , 32 :524 , 2010
PubMedID: 19793631
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
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
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
PubMedID: 19302939
Gene_locus related to this paper: human-PPT1

Title : Palmitoyl protein thioesterase 1 modulates tumor necrosis factor alpha-induced apoptosis - Tardy_2009_Biochim.Biophys.Acta_1793_1250
Author(s) : Tardy C , Sabourdy F , Garcia V , Jalanko A , Therville N , Levade T , Andrieu-Abadie N
Ref : Biochimica & Biophysica Acta , 1793 :1250 , 2009
PubMedID: 19345705
Gene_locus related to this paper: human-PPT1

Title : Protein acyl thioesterases (Review) - Zeidman_2009_Mol.Membr.Biol_26_32
Author(s) : Zeidman R , Jackson CS , Magee AI
Ref : Mol Membr Biol , 26 :32 , 2009
PubMedID: 19115143
Gene_locus related to this paper: human-LYPLA1 , human-PPT1

Title : Palmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing to neuropathology in humans and mice - Kim_2008_J.Clin.Invest_118_3075
Author(s) : Kim SJ , Zhang Z , Sarkar C , Tsai PC , Lee YC , Dye L , Mukherjee AB
Ref : J Clinical Investigation , 118 :3075 , 2008
PubMedID: 18704195
Gene_locus related to this paper: mouse-ppt , human-PPT1

Title : RAGE signaling contributes to neuroinflammation in infantile neuronal ceroid lipofuscinosis - Saha_2008_FEBS.Lett_582_3823
Author(s) : Saha A , Kim SJ , Zhang Z , Lee YC , Sarkar C , Tsai PC , Mukherjee AB
Ref : FEBS Letters , 582 :3823 , 2008
PubMedID: 18948101
Gene_locus related to this paper: mouse-ppt , 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
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 : Endoplasmic reticulum stress-induced caspase-4 activation mediates apoptosis and neurodegeneration in INCL - Kim_2006_Hum.Mol.Genet_15_1826
Author(s) : Kim SJ , Zhang Z , Hitomi E , Lee YC , Mukherjee AB
Ref : Hum Mol Genet , 15 :1826 , 2006
PubMedID: 16644870
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
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
PubMedID: 16759889
Gene_locus related to this paper: human-PPT1

Title : Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins - Kyttala_2006_Biochim.Biophys.Acta_1762_920
Author(s) : Kyttala A , Lahtinen U , Braulke T , Hofmann SL
Ref : Biochimica & Biophysica Acta , 1762 :920 , 2006
PubMedID: 16839750
Gene_locus related to this paper: human-PPT1

Title : The DNA sequence and biological annotation of human chromosome 1 - Gregory_2006_Nature_441_315
Author(s) : Gregory SG , Barlow KF , McLay KE , Kaul R , Swarbreck D , Dunham A , Scott CE , Howe KL , Woodfine K , Spencer CC , Jones MC , Gillson C , Searle S , Zhou Y , Kokocinski F , McDonald L , Evans R , Phillips K , Atkinson A , Cooper R , Jones C , Hall RE , Andrews TD , Lloyd C , Ainscough R , Almeida JP , Ambrose KD , Anderson F , Andrew RW , Ashwell RI , Aubin K , Babbage AK , Bagguley CL , Bailey J , Beasley H , Bethel G , Bird CP , Bray-Allen S , Brown JY , Brown AJ , Buckley D , Burton J , Bye J , Carder C , Chapman JC , Clark SY , Clarke G , Clee C , Cobley V , Collier RE , Corby N , Coville GJ , Davies J , Deadman R , Dunn M , Earthrowl M , Ellington AG , Errington H , Frankish A , Frankland J , French L , Garner P , Garnett J , Gay L , Ghori MR , Gibson R , Gilby LM , Gillett W , Glithero RJ , Grafham DV , Griffiths C , Griffiths-Jones S , Grocock R , Hammond S , Harrison ES , Hart E , Haugen E , Heath PD , Holmes S , Holt K , Howden PJ , Hunt AR , Hunt SE , Hunter G , Isherwood J , James R , Johnson C , Johnson D , Joy A , Kay M , Kershaw JK , Kibukawa M , Kimberley AM , King A , Knights AJ , Lad H , Laird G , Lawlor S , Leongamornlert DA , Lloyd DM , Loveland J , Lovell J , Lush MJ , Lyne R , Martin S , Mashreghi-Mohammadi M , Matthews L , Matthews NS , Mclaren S , Milne S , Mistry S , Moore MJ , Nickerson T , O'Dell CN , Oliver K , Palmeiri A , Palmer SA , Parker A , Patel D , Pearce AV , Peck AI , Pelan S , Phelps K , Phillimore BJ , Plumb R , Rajan J , Raymond C , Rouse G , Saenphimmachak C , Sehra HK , Sheridan E , Shownkeen R , Sims S , Skuce CD , Smith M , Steward C , Subramanian S , Sycamore N , Tracey A , Tromans A , Van Helmond Z , Wall M , Wallis JM , White S , Whitehead SL , Wilkinson JE , Willey DL , Williams H , Wilming L , Wray PW , Wu Z , Coulson A , Vaudin M , Sulston JE , Durbin R , Hubbard T , Wooster R , Dunham I , Carter NP , McVean G , Ross MT , Harrow J , Olson MV , Beck S , Rogers J , Bentley DR , Banerjee R , Bryant SP , Burford DC , Burrill WD , Clegg SM , Dhami P , Dovey O , Faulkner LM , Gribble SM , Langford CF , Pandian RD , Porter KM , Prigmore E
Ref : Nature , 441 :315 , 2006
PubMedID: 16710414
Gene_locus related to this paper: human-LYPLAL1 , human-PPT1 , human-TMCO4 , human-TMEM53

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
PubMedID: 15730038
Gene_locus related to this paper: human-PPT1

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
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
PubMedID: 12382155
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
PubMedID: 11440996
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
PubMedID: 11589012
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
PubMedID: 11717424
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
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
PubMedID: 11136716
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
PubMedID: 10781062
Gene_locus related to this paper: bovin-ppt , human-PPT1

Title : Structural basis for the insensitivity of a serine enzyme (palmitoyl-protein thioesterase) to phenylmethylsulfonyl fluoride - Das_2000_J.Biol.Chem_275_23847
Author(s) : Das AK , Bellizzi JJ, 3rd , Tandel S , Biehl E , Clardy J , Hofmann SL
Ref : Journal of Biological Chemistry , 275 :23847 , 2000
PubMedID: 10801859
Gene_locus related to this paper: bovin-ppt2 , 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 : 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
PubMedID: 10679943
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
PubMedID: 11085596
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
PubMedID: 10649502
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
PubMedID: 10874636
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
PubMedID: 10416973
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
PubMedID: 10477428
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
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
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
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
PubMedID: 8786130
Gene_locus related to this paper: human-PPT1

Title : Didemnin binds to the protein palmitoyl thioesterase responsible for infantile neuronal ceroid lipofuscinosis - Crews_1996_Proc.Natl.Acad.Sci.U.S.A_93_4316
Author(s) : Crews CM , Lane WS , Schreiber SL
Ref : Proc Natl Acad Sci U S A , 93 :4316 , 1996
PubMedID: 8633062
Gene_locus related to this paper: human-PPT1

Title : Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase - Lu_1996_Proc.Natl.Acad.Sci.U.S.A_93_10046
Author(s) : Lu JY , Verkruyse LA , Hofmann SL
Ref : Proc Natl Acad Sci U S A , 93 :10046 , 1996
PubMedID: 8816748
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
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
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
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
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
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
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
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
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
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
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
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