| 1 | PPT1, ZDHHC23, ZDHHC5
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| In a mouse model of INCL reduced S-palmitoylation of cytosolic thioesterase APT1 contributes to microglia proliferation and neuroinflammation
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| Sadhukhan T, Bagh MB, Appu AP, Mondal A, Zhang W, Liu A, Mukherjee AB.
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| J Inherit Metab Dis. Jul;44(4):1051-1069. doi: 10.1002/jimd.12379. Epub 2021 Mar 29. 2021
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| 2 | CLN1, PPT1
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| Novel neuroimaging finding in palmitoyl protein thioesterase-1-related neuronal ceroid lipofuscinosis.
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| Kamate M, Hattiholi V.
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| Pediatr Neurol 46(5):325-8. doi: 10.1016/j.pediatrneurol.2012.02.021.
2012
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| 3 | PPT1
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| Combination small molecule PPT1 mimetic and CNS-directed gene therapy as a treatment for infantile neuronal ceroid lipofuscinosis.
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| Roberts MS, Macauley SL, Wong AM, Yilmas D, Hohm S, Cooper JD, Sands MS.
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| J Inherit Metab Dis 35(5):847-57. doi: 10.1007/s10545-011-9446-x. Epub 2012 Feb 7.
2012
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| 4 | CLN1, PPT1
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| The role of attenuated astrocyte activation in infantile neuronal ceroid lipofuscinosis.
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| Macauley SL, Pekny M, Sands MS.
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| J Neurosci 31(43):15575-85. doi: 10.1523/JNEUROSCI.3579-11.2011.
2011
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| 5 | CLN1, PPT1
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| Human recombinant palmitoyl-protein thioesterase-1 (PPT1) for preclinical evaluation of enzyme replacement therapy for infantile neuronal ceroid lipofuscinosis.
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| Lu JY, Hu J, Hofmann SL.
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| Mol Genet Metab 99(4):374-8. Epub 2009 Dec 5.
2010
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| 6 | PPT1
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| The Batten disease Palmitoyl Protein Thioesterase 1 gene regulates neural specification and axon connectivity during Drosophila embryonic development.
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| Chu-LaGraff Q, Blanchette C, O'Hern P, Denefrio C.
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| PLoS One 5(12):e14402. doi: 10.1371/journal.pone.0014402.
2010
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| 7 | PPT1
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| Identifying cellular pathways modulated by Drosophila palmitoyl-protein thioesterase 1 function.
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| Saja S, Buff H, Smith AC, Williams TS, Korey CA.
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| Neurobiol Dis 40(1):135-45. doi: 10.1016/j.nbd.2010.02.010. Epub 2010 Mar 3.
2010
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| 8 | CLN1, PPT1
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| Structural basis of neuronal ceroid lipofuscinosis 1.
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| Ohno K, Saito S, Sugawara K, Suzuki T, Togawa T, Sakuraba H.
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| Brain Dev 32(7):524-30. doi: 10.1016/j.braindev.2009.08.010. Epub 2009 Sep 29.
2010
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| 9 | CLN1, PPT1
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| Cerebellar pathology and motor deficits in the palmitoyl protein thioesterase 1-deficient mouse.
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| Macauley SL, Wozniak DF, Kielar C, Tan Y, Cooper JD, Sands MS.
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| Exp Neurol 217(1):124-35. doi: 10.1016/j.expneurol.2009.01.022. Epub 2009 Feb 10.
2009
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| 10 | CLN5, PPT1
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| Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins.
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| Lyly A, von Schantz C, Heine C, Schmiedt ML, Sipilä T, Jalanko A, Kyttälä A.
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| BMC Cell Biol 10:83. doi: 10.1186/1471-2121-10-83.
2009
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| 11 | PPT1
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| Deficiency of the INCL protein Ppt1 results in changes in ectopic F1-ATP synthase and altered cholesterol metabolism.
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| Lyly A, Marjavaara SK, KyttŠlŠ A, Uusi-Rauva K, Luiro K, Kopra O, Martinez LO, TanhuanpŠŠ K, Kalkkinen N, Suomalainen A, Jauhiainen M, Jalanko A.
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| Hum Mol Genet 17(10):1406-17. Epub 2008 Feb 1. 2008
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| 12 | PPT1
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| Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1.
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| Ramadan H, Al-Din AS, Ismail A, Balen F, Varma A, Twomey A, Watts R, Jackson M, Anderson G, Green E, Mole SE.
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| Neurology 68(5):387-8. No abstract available. 2007
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| 13 | PPT1, CLN1, GAP43
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| Palmitoyl-protein thioesterase-1 deficiency mediates the activation of the unfolded protein response and neuronal apoptosis in INCL.
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| Zhang Z, Lee YC, Kim SJ, Choi MS, Tsai PC, Xu Y, Xiao YJ, Zhang P, Heffer A, Mukherjee AB.
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| Hum Mol Genet 15(2):337-46. Epub 2005 Dec 20. 2006
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| 14 | CLN1, PPT1
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| Palmitoyl-protein thioesterase-1 deficiency leads to the activation of caspase-9 and contributes to rapid neurodegeneration in INCL.
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| Kim SJ, Zhang Z, Lee YC, Mukherjee AB.
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| Hum Mol Genet 15(10):1580-6. Epub 2006 Mar 28. 2006
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| 15 | PPT1, GAP43, CASP4
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| Endoplasmic reticulum stress-induced caspase-4 activation mediates apoptosis and neurodegeneration in INCL.
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| Kim SJ, Zhang Z, Hitomi E, Lee YC, Mukherjee AB.
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| Hum Mol Genet 15(11):1826-34. Epub 2006 Apr 27. 2006
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| 16 | PPT1
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| Status epilepticus induces changes in the expression and localization of endogenous palmitoyl-protein thioesterase 1.
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| Suopanki J, Lintunen M, Lahtinen H, Haltia M, Panula P, Baumann M, Tyynela J.
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| Neurobiol Dis 10(3):247. 2002
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| 17 | CLN1, PPT1
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| Palmitoyl protein thioesterase (PPT) localizes into synaptosomes and synaptic vesicles in neurons: implications for infantile neuronal ceroid lipofuscinosis (INCL).
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| Lehtovirta M, Kyttala A, Eskelinen EL, Hess M, Heinonen O, Jalanko A.
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| Hum Mol Genet 10(1):69-75. 2001
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| 18 | PPT1, PPT2
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| Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice.
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| Gupta P, Soyombo AA, Atashband A, Wisniewski KE, Shelton JM, Richardson JA, Hammer RE, Hofmann SL.
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| Proc Natl Acad Sci U S A 98(24):13566-71. 2001
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| 19 | CLN1, PPT1
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| Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis.
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| Salonen T, Jarvela I, Peltonen L, Jalanko A.
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| Hum Mutat 15(3):273-9. 2000
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| 20 | CLN1, CLN2, PPT1, TPP1
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| Developmental changes in the expression of neuronal ceroid lipofuscinoses-linked proteins.
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| Suopanki J, Partanen S, Ezaki J, Baumann M, Kominami E, Tyynela J.
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| Mol Genet Metab 71(1-2):190-4. 2000
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| 21 | CLN1, PPT1
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| Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency.
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| Hofmann SL, et al.
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| Mol Genet Metab 66(4):234-9. 1999
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| 22 | CLN1, CLN2, CLN3, CLN5, PPT1, TPP1
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| Molecular basis of the neuronal ceroid lipofuscinoses: Mutations in CLN1, CLN2, CLN3, and CLN5.
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| Mole SE, et al.
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| Hum Mutat 14(3):199-215 1999
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| 23 | CLN1, PPT1
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| Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.
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| 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.
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| Hum Mol Genet 7(2):291-7. 1998
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| 24 | CLN1, PPT1
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| Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.
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| Das AK, et al.
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| J Clin Invest 102 : 361-370. 1998
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| 25 | CLN1, PPT1
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| cDNA and genomic cloning of human palmitoyl-protein thioesterase (PPT), the enzyme defective in infantile neuronal ceroid lipofuscinosis.
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| Schriner JE, et al.
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| Genomics 34 : 317-322. 1996
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| 26 | CLN1, PPT1
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| Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis : correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase.
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| Lu JY, et al.
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| Proc Natl Acad Sci U S A 93 : 10046-10050. 1996
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| 27 | PPT1
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| Lysosomal targeting of palmitoyl-protein thioesterase.
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| Verkruyse LA, et al.
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| J Biol Chem 271 : 15831-15836. 1996
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| 28 | CLN1, PPT1
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| Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis.
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| Vesa J, et al.
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| Nature 376 : 584-587. 1995
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| 29 | PPT1
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| Tissue-specific generation of two preprotachykinin mRNAs from one gene by alternative RNA splicing.
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| Nawa H, et al.
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| Nature 312 : 729-734. 1984
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