| 1 | 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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| 2 | 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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| 3 | 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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| 4 | 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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| 5 | 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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| 6 | CLN1, CLN10, CLN2, CLN3, CLN5, CLN6, CLN7, CLN8
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| The function of CLN3P, the Batten disease protein.
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| Rakheja D, Narayan SB, Bennett MJ.
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| Mol Genet Metab 93(3):269-74. Review. No abstract available. Erratum in: Mol Genet Metab. 2008 Jun;94(2):270.
2008
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| 7 | CLN1, CLN2, CLN3, CLN5, CLN6, CLN8, PPT2
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| Neuronal ceroid lipofuscinosis: a common pathway?
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| Persaud-Sawin DA, Mousallem T, Wang C, Zucker A, Kominami E, Boustany RM.
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| Pediatr Res 61(2):146-52. 2007
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| 8 | 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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| 9 | 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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| 10 | CLN1, CLN2, TPP1
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| Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2).
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| Hofmann SL, Atashband A, Cho SK, Das AK, Gupta P, Lu JY.
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| Curr Mol Med 2(5):423-37. Review. 2002
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| 11 | 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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| 12 | 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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| 13 | CLN1, CLN2, CLN3, TPP1
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| Neural and extraneural expression of the neuronal ceroid lipofuscinoses genes CLN1, CLN2, and CLN3: functional implications for CLN3.
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| Chattopadhyay S, Pearce DA.
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| Mol Genet Metab 71(1-2):207-11. 2000
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| 14 | 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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| 15 | 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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| 16 | 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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| 17 | 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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| 18 | 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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| 19 | 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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| 20 | 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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| 21 | CLN1
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| Identification of YAC clones for human chromosome 1p32 and physical mapping of the infantile neuronal ceroid lipofuscinosis (INCL) locus.
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| Hellsten E, et al.
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| Genomics 25 : 404-412. 1995
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| 22 | 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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| 23 | CLN1
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| A single PCR marker in strong allelic association with the infantile form of neuronal ceroid lipofuscinosis facilitates reliable prenatal diagnostics and disease carrier identification.
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| Vesa J, et al.
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| Eur J Hum Genet 1 : 125-132. 1993
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| 24 | CLN1
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| Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32 : incorporation of linkage disequilibrium in multipoint analysis.
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| Hellsten E, et al.
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| Genomics 16 : 720-725. 1993
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| 25 | CLN1, CLN3
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| Genetic heterogeneity in neuronal ceroid lipofuscinosis (NCL) : evidence that the late-infantile subtype (Jansky-Bielschowsky disease; CLN2) is not an allelic form of the juvenile or infantile subtypes.
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| Williams R, et al.
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| Am J Hum Genet 53 : 931-935. 1993
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| 26 | CLN1
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| Linkage map of the chromosomal region surrounding the infantile neuronal ceroid lipofuscinosis on 1p.
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| JŠrvelŠ I, et al.
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| Am J Med Genet 42 : 546-548. 1992
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| 27 | CLN1, CLN5
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| Infantile neuronal ceroid lipofuscinosis (CLN1) : linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus.
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| JŠrvelŠ I.
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| Genomics 10 : 333-337. 1991
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| 28 | CLN1
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| Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1.
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| JŠrvelŠ I, et al.
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| Genomics 9 : 170-173. 1991
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| 29 | CLN1
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| Infantile neuronal ceroid-lipofuscinosis is not an allelic form of Batten disease: exclusion of chromosome 16 region with linkage analyses.
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| Jokiaho I, et al.
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| Genomics 8 : 391-393. 1990
|