Articles from other Scientists
General/NCL
Goebel HH, Wisniewski KE. Current state of clinical and morphological features in human NCL. Brain Pathol. 2004 Jan;14(1):61-9.
Mole SE. The genetic spectrum of human neuronal ceroid-lipofuscinoses. Brain Pathol. 2004 Jan;14(1):70-6.
Mitchison HM, Lim MJ, Cooper JD. Selectivity and types of cell death in the neuronal ceroid lipofuscinoses. Brain Pathol. 2004 Jan;14(1):86-96.
Gupta P, Soyombo AA, Shelton JM, Wilkofsky IG, Wisniewski KE, Richardson JA, Hofmann SL.
Disruption of PPT2 in mice causes an unusual lysosomal storage disorder with neurovisceral features. Proc Natl Acad Sci U S A. 2003 Oct 14;100(21):12325-30.
Teixeira C, Guimaraes A, Bessa C, Ferreira MJ, Lopes L, Pinto E, Pinto R, Boustany RM, Sa Miranda MC, Ribeiro MG. Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population. J Neurol. 2003 Jun;250(6):661-7.
Cooper JD. Progress towards understanding the neurobiology of Batten disease or neuronal ceroid lipofuscinosis. Curr Opin Neurol. 2003 Apr;16(2):121-8.
Elshatory Y, Brooks AI, Chattopadhyay S, Curran TM, Gupta P, Ramalingam V, Hofmann SL, Pearce DA. Early changes in gene expression in two models of Batten disease. FEBS Lett. 2003 Mar 13;538(1-3):207-12.
Mazzei R, Conforti FL, Magariello A, Bravaccio C, Militerni R, Gabriele AL, Sampaolo S, Patitucci A, Di Iorio G, Muglia M, Quattrone A. A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis. J Neurol. 2002 Oct;249(10):1398-400.
Lukacs Z, Santavuori P, Keil A, Steinfeld R, Kohlschutter A. Rapid and simple assay for the determination of tripeptidyl peptidase and palmitoyl protein thioesterase activities in dried blood spots. Clin Chem. 2003 Mar;49(3):509-11.
Hofmann SL, Atashband A, Cho SK, Das AK, Gupta P, Lu JY. Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2). Curr Mol Med. 2002 Aug;2(5):423-37.
Weimer JM, Kriscenski-Perry E, Elshatory Y, Pearce DA. The neuronal ceroid lipofuscinoses: mutations in different proteins result in similar disease. Neuromolecular Med. 2002;1(2):111-24.
Holopainen JM, Saarikoski J, Kinnunen PK, Jarvela I. Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs). Eur J Biochem. 2001 Nov;268(22):5851-6.
Dhar S, Bitting RL, Rylova SN, Jansen PJ, Lockhart E, Koeberl DD, Amalfitano A, Boustany RM.
Flupirtine blocks apoptosis in batten patient lymphoblasts and in human postmitotic CLN3- and CLN2-deficient neurons. Ann Neurol. 2002 Apr;51(4):448-66.
Wisniewski KE. Pheno/genotypic correlations of neuronal ceroid lipofuscinoses. Neurology. 2001 Aug 28;57(4):576-81. Review.
Gardiner RM. The molecular genetic basis of the neuronal ceroid lipofuscinoses. Neurol Sci. 2000;21(3 Suppl):S15-9. Review.
Delgado-Escueta AV, Ganesh S, Yamakawa K. Advances in the genetics of progressive myoclonus epilepsy. Am J Med Genet. 2001 Feb;106(2):129-38.
Goebel HH, Kohlschutter A. Dementia in the neuronal ceroid-lipofuscinoses. Adv Exp Med Biol. 2001;487:211-7.
Chattopadhyay S, Pearce DA. Neural and extraneural expression of the neuronal ceroid lipofuscinoses genes CLN1, CLN2, and CLN3: functional implications for CLN3. Mol Genet Metab. 2000 Sep-Oct;71(1-2):207-11. Review.
Dawson G, Cho S. Batten's disease: clues to neuronal protein catabolism in lysosomes. J Neurosci Res. 2000 Apr 15;60(2):133-40. Review.
CLN1/INCL (top)
Cho SK, Hofmann SL. pdf1, a palmitoyl protein thioesterase 1 Ortholog in Schizosaccharomyces pombe: a yeast model of infantile Batten disease. Eukaryot Cell. 2004 Apr;3(2):302-10.
Korey CA, MacDonald ME. An over-expression system for characterizing Ppt1 function in Drosophila. BMC Neurosci. 2003 Nov 20;4(1):30.
Glaser RL, Hickey AJ, Chotkowski HL, Chu-LaGraff Q. Characterization of Drosophila palmitoyl-protein thioesterase 1. Gene. 2003 Jul 17;312:271-9.
Calero G, Gupta P, Nonato MC, Tandel S, Biehl ER, Hofmann SL, Clardy J. The crystal structure of palmitoyl protein thioesterase-2 (PPT2) reveals the basis for divergent substrate specificities of the two lysosomal thioesterases, PPT1 and PPT2. J Biol Chem. 2003 Sep 26;278(39):37957-64.
Suopanki J, Lintunen M, Lahtinen H, Haltia M, Panula P, Baumann M, Tyynela J. Status epilepticus induces changes in the expression and localization of endogenous palmitoyl-protein thioesterase 1. Neurobiol Dis. 2002 Aug;10(3):247-57.
Lu JY, Verkruyse LA, Hofmann SL. The effects of lysosomotropic agents on normal and INCL cells provide further evidence for the lysosomal nature of palmitoyl-protein thioesterase function. Biochim Biophys Acta. 2002 Jun 13;1583(1):35-44.
Van Diggelen OP, Thobois S, Tilikete C, Zabot MT, Keulemans JL, van Bunderen
PA, Taschner PE, Losekoot M, Voznyi YV. Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease. Ann Neurol. 2001 Aug;50(2):269-72.
Lonnqvist T, Vanhanen SL, Vettenranta K, Autti T, Rapola J, Santavuori P,
Saarinen-Pihkala UM. Hematopoietic stem cell transplantation in infantile neuronal ceroid lipofuscinosis. Neurology. 2001 Oct 23;57(8):1411-1416.
Salonen T, Heinonen-Kopra O, Vesa J, Jalanko A. Neuronal Trafficking of Palmitoyl Protein Thioesterase Provides an Excellent Model to Study the Effects of Different Mutations Which Cause Infantile Neuronal Ceroid Lipofuscinosis. Mol Cell Neurosci. 2001 Aug;18(2):131-40.
Das AK, Lu JY, Hofmann SL. Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis. Hum Mol Genet. 2001 Jun 15;10(13):1431-9.
Bellizzi JJ 3rd, Widom J, Kemp C, Lu JY, Das AK, Hofmann SL, Clardy J. The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis. Proc Natl Acad Sci U S A. 2000 Apr 25;97(9):4573-8.
CLN2/LINCL (top)
Tsiakas K, Steinfeld R, Storch S, Ezaki J, Lukacs Z, Kominami E, Kohlschutter A, Ullrich K, Braulke T.
Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity. Glycobiology. 2004 Apr;14(4):1C-5C.
Golabek AA, Kida E, Walus M, Wujek P, Mehta P, Wisniewski KE. Biosynthesis, glycosylation, and enzymatic processing in vivo of human tripeptidyl-peptidase I. J Biol Chem. 2003 Feb 28;278(9):7135-45.
Haskell RE, Hughes SM, Chiorini JA, Alisky JM, Davidson BL. Viral-mediated delivery of the late-infantile neuronal ceroid lipofuscinosis gene, TPP-I to the mouse central nervous system. Gene Ther. 2003 Jan;10(1):34-42.
Ju W, Zhong R, Moore S, Moroziewicz D, Currie JR, Parfrey P, Brown WT, Zhong N. Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles. J Med Genet. 2002 Nov;39(11):822-5.
Bernardini F, Warburton MJ. Lysosomal degradation of cholecystokinin-(29-33)-amide in mouse brain is dependent on tripeptidyl peptidase-I: implications for the degradation and storage of peptides in classical late-infantile neuronal ceroid lipofuscinosis. Biochem J. 2002 Sep 1;366(Pt 2):521-9.
Steinfeld R, Heim P, von Gregory H, Meyer K, Ullrich K, Goebel HH, Kohlschutter A. Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations. Am J Med Genet. 2002 Nov 1;112(4):347-54.
Kurachi Y, Oka A, Itoh M, Mizuguchi M, Hayashi M, Takashima S. Distribution and development of CLN2 protein, the late-infantile neuronal ceroid lipofuscinosis gene product. Acta Neuropathol (Berl). 2001 Jul;102(1):20-6.
Lin L, Lobel P. Expression and analysis of CLN2 variants in CHO cells: Q100r represents a
polymorphism, and G389E and R447H represent loss-of-function mutations.
Hum Mutat. 2001 Aug;18(2):165.
Kida E, Golabek AA, Walus M, Wujek P, Kaczmarski W, Wisniewski KE. Distribution of tripeptidyl peptidase I in human tissues under normal and pathological conditions. J Neuropathol Exp Neurol. 2001 Mar;60(3):280-92.
Lin L, Lobel P. Production and characterization of recombinant human CLN2 protein for
enzyme-replacement therapy in late infantile neuronal ceroid lipofuscinosis. Biochem J. 2001 Jul 1;357(Pt 1):49-55.
Lin L, Sohar I, Lackland H, Lobel P. The human CLN2 protein/tripeptidyl-peptidase I is a serine proteaseT that autoactivates at acidic pH. J Biol Chem. 2001 Jan 19;276(3):2249-55.
CLN3/JNCL (top)
Kyttala A, Ihrke G, Vesa J, Schell MJ, Luzio JP. Two motifs target Batten disease protein CLN3 to lysosomes in transfected nonneuronal and neuronal cells. Mol Biol Cell. 2004 Mar;15(3):1313-23.
Kim Y, Ramirez-Montealegre D, Pearce DA. A role in vacuolar arginine transport for yeast Btn1p and for human CLN3, the protein defective in Batten disease. Proc Natl Acad Sci U S A. 2003 Dec 23;100(26):15458-62.
Mao Q, Xia H, Davidson BL. Intracellular trafficking of CLN3, the protein underlying the childhood neurodegenerative disease, Batten disease. FEBS Lett. 2003 Dec 4;555(2):351-7.
Ezaki J, Takeda-Ezaki M, Koike M, Ohsawa Y, Taka H, Mineki R, Murayama K, Uchiyama Y, Ueno T, Kominami E. Characterization of Cln3p, the gene product responsible for juvenile neuronal ceroid lipofuscinosis, as a lysosomal integral membrane glycoprotein. J Neurochem. 2003 Dec;87(5):1296-308.
Sappington RM, Pearce DA, Calkins DJ. Optic nerve degeneration in a murine model of juvenile ceroid lipofuscinosis. Invest Ophthalmol Vis Sci. 2003 Sep;44(9):3725-31.
Mao Q, Foster BJ, Xia H, Davidson BL. Membrane topology of CLN3, the protein underlying Batten disease. FEBS Lett. 2003 Apr 24;541(1-3):40-6.
Chattopadhyay S, Kriscenski-Perry E, Wenger DA, Pearce DA. An autoantibody to GAD65 in sera of patients with juvenile neuronal ceroid lipofuscinoses. Neurology. 2002 Dec 10;59(11):1816-7.
Cotman SL, Vrbanac V, Lebel LA, Lee RL, Johnson KA, Donahue LR, Teed AM, Antonellis K, Bronson RT, Lerner TJ, MacDonald ME. Cln3(Deltaex7/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth. Hum Mol Genet. 2002 Oct 15;11(22):2709-21.
Kriscenski-Perry E, Applegate CD, Serour A, Mhyre TR, Leonardo CC, Pearce DA. Altered flurothyl seizure induction latency, phenotype, and subsequent mortality in a mouse model of juvenile neuronal ceroid lipofuscinosis/batten disease. Epilepsia. 2002 Oct;43(10):1137-40.
Rinne JO, Ruottinen HM, Nagren K, Aberg LE, Santavuori P. Positron emission tomography shows reduced striatal dopamine D1 but not D2 receptors in juvenile neuronal ceroid lipofuscinosis. Neuropediatrics. 2002 Jun;33(3):138-41.
Persaud-Sawin DA, VanDongen A, Boustany RM. Motifs within the CLN3 protein: modulation of cell growth rates and apoptosis. Hum Mol Genet. 2002 Sep 1;11(18):2129-42.
Chattopadhyay S, Ito M, Cooper JD, Brooks AI, Curran TM, Powers JM, Pearce DA. An autoantibody inhibitory to glutamic acid decarboxylase in the neurodegenerative disorder Batten disease. Hum Mol Genet. 2002 Jun 1;11(12):1421-31.
Luiro K, Kopra O, Lehtovirta M, Jalanko A. CLN3 protein is targeted to neuronal synapses but excluded from synaptic vesicles: new clues to Batten disease. Hum Mol Genet. 2001 Sep 15;10(19):2123-31.
Aberg LE, Rinne JO, Rajantie I, Santavuori P. A favorable response to antiparkinsonian treatment in juvenile neuronal ceroid lipofuscinosis. Neurology. 2001 May 8;56(9):1236-9.
Bensaoula T, Shibuya H, Katz ML, Smith JE, Johnson GS, John SK, Milam AH. Histopathologic and immunocytochemical analysis of the retina and ocular tissues in Batten disease. Ophthalmology. 2000 Sep;107(9):1746-53.
Golabek AA, Kida E, Walus M, Kaczmarski W, Michalewski M, Wisniewski KE. CLN3 protein regulates lysosomal pH and alters intracellular processing of Alzheimer's amyloid-beta protein precursor and cathepsin D in human cells. Mol Genet Metab. 2000 Jul;70(3):203-13.
Haskell RE, Carr CJ, Pearce DA, Bennett MJ, Davidson BL. Batten disease: evaluation of CLN3 mutations on protein localization and function. Hum Mol Genet. 2000 Mar 22;9(5):735-44.
Pearce DA. Localization and processing of CLN3, the protein associated to Batten disease: where is it
and what does it do? J Neurosci Res. 2000 Jan 1;59(1):19-23. Review.
CLN4/ANCL (top)
Nijssen PC, Ceuterick C, van Diggelen OP, Elleder M, Martin JJ, Teepen JL, Tyynela J, Roos RA. Autosomal dominant adult neuronal ceroid lipofuscinosis: a novel form of NCL with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiency. Brain Pathol. 2003 Oct;13(4):574-81
Vadlamudi L, Westmoreland BF, Klass DW, Parisi JE. Electroencephalographic findings in Kufs disease. Clin Neurophysiol. 2003 Sep;114(9):1738-43.
Burneo JG, Arnold T, Palmer CA, Kuzniecky RI, Oh SJ, Faught E. Adult-onset neuronal ceroid lipofuscinosis (Kufs disease) with autosomal dominant inheritance in Alabama. Epilepsia. 2003 Jun;44(6):841-6.
Callagy C, O'Neill G, Murphy SF, Farrell MA. Adult neuronal ceroid lipofuscinosis (Kufs' disease) in two siblings of an Irish family. Clin Neuropathol. 2000 May-Jun;19(3):109-18.
Nijssen PC, Brusse E, Leyten AC, Martin JJ, Teepen JL, Roos RA. Autosomal dominant adult neuronal ceroid lipofuscinosis: parkinsonism due to both striatal and nigral dysfunction. Mov Disord. 2002 May;17(3):482-7.
Josephson SA, Schmidt RE, Millsap P, McManus DQ, Morris JC. Autosomal dominant Kufs' disease: a cause of early onset dementia. J Neurol Sci. 2001 Jul 15;188(1-2):51-60.
CLN5/fvLINCL (top)
Lauronen L, Huttunen J, Kirveskari E, Wikstrom H, Sainio K, Autti T, Santavuori P. Enlarged SI and SII somatosensory evoked responses in the CLN5 form of neuronal ceroid lipofuscinosis. Clin Neurophysiol. 2002 Sep;113(9):1491-500.
Kirveskari E, Partinen M, Santavuori P. Sleep and its disturbance in a variant form of late infantile neuronal ceroid lipofuscinosis (CLN5). J Child Neurol. 2001 Oct;16(10):707-13.
Heinonen O, Salonen T, Jalanko A, Peltonen L, Copp A. CLN-1 and CLN-5, genes for infantile and variant late infantile neuronal ceroid lipofuscinoses, are expressed in the embryonic human brain. J Comp Neurol. 2000 Oct 23;426(3):406-12.
CLN6(top)
Heine C, Koch B, Storch S, Kohlschutter A, Palmer DN, Braulke T. Defective ER-resident membrane protein CLN6 Affects lysosomal degradation of endocytosed arylsulfatase A. J Biol Chem. 2004 Mar 9.
Heine C, Tyynela J, Cooper JD, Palmer DN, Elleder M, Kohlschutter A, Braulke T. Enhanced expression of manganese-dependent superoxide dismutase in human and sheep CLN6 tissues. Biochem J. 2003 Dec 1;376(Pt 2):369-76.
Sharp JD, Wheeler RB, Parker KA, Gardiner RM, Williams RE, Mole SE. Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis. Hum Mutat. 2003 Jul;22(1):35-42.
Teixeira CA, Espinola J, Huo L, Kohlschutter J, Persaud Sawin DA, Minassian B, Bessa CJ, Guimaraes A, Stephan DA, Sa Miranda MC, MacDonald ME, Ribeiro MG, Boustany RM. Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis. Hum Mutat. 2003 May;21(5):502-8.
Wheeler RB, Sharp JD, Schultz RA, Joslin JM, Williams RE, Mole SE (2001) The Gene Mutated in Variant Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN6) and in nclf Mutant Mice Encodes a Novel Predicted Transmembrane Protein. Am J Hum Genet 2001 Nov 27;70(2)
Gao H, Boustany RM, Espinola JA, Cotman SL, Srinidhi L, Antonellis KA, Gillis T, Qin X, Liu S, Donahue LR, Bronson RT, Faust JR, Stout D, Haines JL, Lerner TJ, MacDonald ME. Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. Am J Hum Genet. 2002 Feb;70(2):324-35.
Tammen I, Cook RW, Nicholas FW, Raadsma HW. Neuronal ceroid lipofuscinosis in Australian Merino sheep: a new animal model. Europ J Paediatr Neurol. 2001;5 Suppl A:37-41.
CLN8/EPMR
Ranta S, Topcu M, Tegelberg S, Tan H, Ustubutun A, Saatci I, Dufke A, Enders H, Pohl K, Alembik Y, Mitchell WA, Mole SE, Lehesjoki AE. Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. Hum Mutat. 2004 Apr;23(4):300-5.
Bertamini M, Marzani B, Guarneri R, Guarneri P, Bigini P, Mennini T, Curti D. Mitochondrial oxidative metabolism in motor neuron degeneration (mnd) mouse central nervous system. Eur J Neurosci. 2002 Dec;16(12):2291-6.
Mennini T, Bigini P, Ravizza T, Vezzani A, Calvaresi N, Tortarolo M, Bendotti C. Expression of glutamate receptor subtypes in the spinal cord of control and mnd mice, a model of motor neuron disorder. J Neurosci Res. 2002 Nov 15;70(4):553-60.
Bolivar VJ, Scott Ganus J, Messer A. The development of behavioral abnormalities in the motor neuron degeneration (mnd) mouse. Brain Res. 2002 May 24;937(1-2):74-82.
Lonka L, Kyttala A, Ranta S, Jalanko A, Lehesjoki AE. The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum. Hum Mol Genet. 2000 Jul 1;9(11):1691-7.
Ranta S, Zhang Y, Ross B, Lonka L, Takkunen E, Messer A, Sharp J, Wheeler R, Kusumi K, Mole S, Liu W, Soares MB, Bonaldo MF, Hirvasniemi A, de la Chapelle A, Gilliam TC, Lehesjoki AE. The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. Nat Genet. 1999 Oct;23(2):233-6.
