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  • Ahtiainen L., Luiro K, Kauppi M, Tyynela J, Kopra O, Jalanko A. (2006) Palmitoyl protein thioesterase 1 (PPT1) deficiency causes endocytic defects connected to abnormal saposin processing. Exp Cell Res 312:15401553.
  • Alakurtti K, Weber E, Rinne R, Theil G, De Haan GJ, Lindhout D, Salmikangas P, Saukko P, Lahtinen U, Lehesjoki AE. (2005) Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations. Eur J Hum Genet 13:208215.
  • Badhwar A, Berkovic SF, Dowling JP, Gonzales M, Narayanan S, Brodtmann A, Berzen L, Caviness J, Trenkwalder C, Winkelmann J, Rivest J, Lambert M, Hernandez-Cossio O, Carpenter S, Andermann F, Andermann E. (2004) Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder. Brain 127:21732182.
  • Balreira A, Gaspar P, Caiola D, Chaves J, Beirao I, Lima JL, Azevedo JE, Miranda MC. (2008) A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome. Hum Mol Genet 17:22382243.
  • Berkovic SF, Mazarib A, Walid S, Neufeld MY, Manelis J, Nevo Y, Korczyn AD, Yin J, Xiong L, Pandolfo M, Mulley JC, Wallace RH. (2005) A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping. Brain 128:652658.
  • Berkovic SF, Dibbens LM, Oshlack A, Silver JD, Katerelos M, Vears DF, Lullmann-Rauch R, Blanz J, Zhang KW, Stankovich J, Kalnins RM, Dowling JP, Andermann E, Andermann F, Faldini E, D’Hooge R, Vadlamudi L, Macdonell RA, Hodgson BL, Bayly MA, Savige J, Mulley JC, Smyth GK, Power DA, Saftig P, Bahlo M. (2008) Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. Am J Hum Genet 82:673684.
  • Bohlega S, Kambouris M, Shahid M, Al Homsi M, Al Sous W. (2000) Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC). Neurology 54:261263.
  • Bonten EJ, Arts WF, Beck M, Covanis A, Donati MA, Parini R, Zammarchi E, D’Azzo A. (2000) Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis. Hum Mol Genet 9:27152725.
  • Chan EM, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC, Avanzini G, Elia M, Ackerley CA, Jovic NJ, Bohlega S, Andermann E, Rouleau GA, Delgado-Escueta AV, Minassian BA, Scherer SW. (2003) Mutations in NHLRC1 cause progressive myoclonus epilepsy. Nat Genet 35:125127.
  • Chan EM, Ackerley CA, Lohi H, Ianzano L, Cortez MA, Shannon P, Scherer SW, Minassian BA. (2004) Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy. Hum Mol Genet 13:11171129.
  • Chattopadhyay S, Ito M, Cooper JD, Brooks AI, Curran TM, Powers JM, Pearce DA. (2002) An autoantibody inhibitory to glutamic acid decarboxylase in the neurodegenerative disorder Batten disease. Hum Mol Genet 11:14211431.
  • Cheng A, Zhang M, Gentry MS, Worby CA, Dixon JE, Saltiel AR. (2007) A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori’s disease. Genes Dev 21:23992409.
  • Chew NK, Mir P, Edwards MJ, Cordivari C, Martino D, Schneider SA, Kim HT, Quinn NP, Bhatia KP. (2008) The natural history of Unverricht-Lundborg disease: a report of eight genetically proven cases. Mov Disord 23:107113.
  • DiMauro S. (2004) Mitochondrial diseases. Biochim Biophys Acta 1658:8088.
  • Eliason SL, Stein CS, Mao Q, Tecedor L, Ding SL, Gaines DM, Davidson BL. (2007) A knock-in reporter model of Batten disease. J Neurosci 27:98269834.
  • Eskelinen EL, Tanaka Y, Saftig P. (2003) At the acidic edge: emerging functions for lysosomal membrane proteins. Trends Cell Biol 13:137145.
  • Estrada S, Nycander M, Hill NJ, Craven CJ, Waltho JP, Bjork I. (1998) The role of Gly-4 of human cystatin A (stefin A) in the binding of target proteinases. Characterization by kinetic and equilibrium methods of the interactions of cystatin A Gly-4 mutants with papain, cathepsin B, and cathepsin L. Biochemistry 37:75517560.
  • Filocamo M, Mazzotti R, Stroppiano M, Grossi S, Dravet C, Guerrini R. (2004) Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L). Epilepsia 45:11541157.
  • Franceschetti S, Sancini G, Buzzi A, Zucchini S, Paradiso B, Magnaghi G, Frassoni C, Chikhladze M, Avanzini G, Simonato M. (2007) A pathogenetic hypothesis of Unverricht-Lundborg disease onset and progression. Neurobiol Dis 25:675685.
  • Fukuhara N, Tokiguchi S, Shirakawa K, Tsubaki T. (1980) Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature. J Neurol Sci 47:117133.
  • Ganesh S, Agarwala KL, Ueda K, Akagi T, Shoda K, Usui T, Hashikawa T, Osada H, Delgado-Escueta AV, Yamakawa K. (2000) Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes. Hum Mol Genet 9:22512261.
  • Gentry MS, Worby CA, Dixon JE. (2005) Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin. Proc Natl Acad Sci U.S.A. 102:85018506.
  • Gentry MS, Dowen RH 3rd, Worby CA, Mattoo S, Ecker JR, Dixon JE. (2007) The phosphatase laforin crosses evolutionary boundaries and links carbohydrate metabolism to neuronal disease. J Cell Biol 178:477488.
  • Goebel HH, Wisniewski KE. (2004) Current state of clinical and morphological features in human NCL. Brain Pathol 14:6169.
  • Golabek AA, Kida E, Walus M, Kaczmarski W, Michalewski M, Wisniewski KE. (2000) 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 70:203213.
  • Greaves J, Chamberlain LH. (2007) Palmitoylation-dependent protein sorting. J Cell Biol 176:249254.
  • Heine C, Koch B, Storch S, Kohlschutter A, Palmer DN, Braulke T. (2004) Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A. J Biol Chem 279:2234722352.
  • Hobert JA, Dawson G. (2007) A novel role of the Batten disease gene CLN3: association with BMP synthesis. Biochem Biophys Res Commun 358:111116.
  • Holopainen JM, Saarikoski J, Kinnunen PK, Jarvela I. (2001) Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs). Eur J Biochem 268:58515856.
  • Houseweart MK, Pennacchio LA, Vilaythong A, Peters C, Noebels JL, Myers RM. (2003) Cathepsin B but not cathepsins L or S contributes to the pathogenesis of Unverricht-Lundborg progressive myoclonus epilepsy (EPM1). J Neurobiol 56:315327.
  • Ianzano L, Zhang J, Chan EM, Zhao XC, Lohi H, Scherer SW, Minassian BA. (2005) Lafora progressive Myoclonus Epilepsy mutation database-EPM2A and NHLRC1 (EPM2B) genes. Hum Mutat 26:397.
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  • Ikeuchi T, Koide R, Tanaka H, Onodera O, Igarashi S, Takahashi H, Kondo R, Ishikawa A, Tomoda A, Miike T, Shimizu N, Ikuta F, Tsuji S (1995) Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat. Ann Neurol 37:769775.
  • Joensuu T, Lehesjoki AE, Kopra O. (2008) Molecular background of EPM1-Unverricht-Lundborg disease. Epilepsia 49:557563.
  • Kalviainen R, Khyuppenen J, Koskenkorva P, Eriksson K, Vanninen R, Mervaala E. (2008) Clinical picture of EPM1-Unverricht-Lundborg disease. Epilepsia 49:549556.
  • Kyttala A, Lahtinen U, Braulke T, Hofmann SL. (2006) Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins. Biochim Biophys Acta 1762:920933.
  • Lafreniere RG, Rochefort DL, Chretien N, Rommens JM, Cochius JI, Kalviainen R, Nousiainen U, Patry G, Farrell K, Soderfeldt B, Federico A, Hale BR, Cossio OH, Sorensen T, Pouliot MA, Kmiec T, Uldall P, Janszky J, Pranzatelli MR, Andermann F, Andermann E, Rouleau GA. (1997) Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1. Nat Genet 15:298302.
  • Lalioti MD, Scott HS, Antonarakis SE. (1999) Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1. Hum Mol Genet 8:17911798.
  • Larson GP, Ding S, Lafreniere RG, Rouleau GA, Krontiris TG. (1999) Instability of the EPM1 minisatellite. Hum Mol Genet 8:19851988.
  • Lohi H, Ianzano L, Zhao XC, Chan EM, Turnbull J, Scherer SW, Ackerley CA, Minassian BA. (2005) Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy. Hum Mol Genet 14:27272736.
  • Lohi H, Chan EM, Scherer SW, Minassian BA. (2006) On the road to tractability: the current biochemical understanding of progressive myoclonus epilepsies. Adv Neurol 97:399415.
  • Lonka L, Kyttala A, Ranta S, Jalanko A, Lehesjoki AE. (2000) The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum. Hum Mol Genet 9:16911697.
  • Lossos A, Meiner Z, Barash V, Soffer D, Schlesinger I, Abramsky O, Argov Z, Shpitzen S, Meiner V. (1998) Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene. Ann Neurol 44:867872.
  • Magaudda A, Ferlazzo E, Nguyen VH, Genton P. (2006) Unverricht-Lundborg disease, a condition with self-limited progression: long-term follow-up of 20 patients. Epilepsia 47:860866.
  • Margraf LR, Boriack RL, Routheut AA, Cuppen I, Alhilali L, Bennett CJ, Bennett MJ. (1999) Tissue expression and subcellular localization of CLN3, the Batten disease protein. Mol Genet Metab 66:283289.
  • Minassian BA, Lee JR, Herbrick JA, Huizenga J, Soder S, Mungall AJ, Dunham I, Gardner R, Fong CY, Carpenter S, Jardim L, Satishchandra P, Andermann E, Snead OC 3rd, Lopes-Cendes I, Tsui LC, Delgado-Escueta AV, Rouleau GA, Scherer SW. (1998) Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. Nat Genet 20:171174.
  • Minassian BA, Ianzano L, Meloche M, Andermann E, Rouleau GA, Delgado-Escueta AV, Scherer SW. (2000) Mutation spectrum and predicted function of laforin in Lafora’s progressive myoclonus epilepsy. Neurology 55:341346.
  • Minassian BA. (2001) Lafora’s disease: towards a clinical, pathologic, and molecular synthesis. Pediatr Neurol 25:2129.
  • Minassian BA, Andrade DM, Ianzano L, Young EJ, Chan E, Ackerley CA, Scherer SW. (2001) Laforin is a cell membrane and endoplasmic reticulum-associated protein tyrosine phosphatase. Ann Neurol 49:271275.
  • Mole SE, Michaux G, Codlin S, Wheeler RB, Sharp JD, Cutler DF. (2004) CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein. Exp Cell Res 298:399406.
  • Mole SE, Williams RE, Goebel HH. (2005) Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. Neurogenetics 6:107126.
  • Munroe PB, Mitchison HM, O’Rawe AM, Anderson JW, Boustany RM, Lerner TJ, Taschner PE, De Vos N, Breuning MH, Gardiner RM, Mole SE. (1997) Spectrum of mutations in the Batten disease gene, CLN3. Am J Hum Genet 61:310316.
  • Narayan SB, Rakheja D, Tan L, Pastor JV, Bennett MJ. (2006) CLN3P, the Batten’s disease protein, is a novel palmitoyl-protein Delta-9 desaturase. Ann Neurol 60:570577.
  • Patterson MC, Horowitz M, Abel RB, Currie JN, Yu KT, Kaneski C, Higgins JJ, O’Neill RR, Fedio P, Pikus A et al. (1993) Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher’s disease. Neurology 43:19931997.
  • Pennacchio LA, Lehesjoki AE, Stone NE, Willour VL, Virtaneva K, Miao J, D’Amato E, Ramirez L, Faham M, Koskiniemi M, Warrington JA, Norio R, De La Chapelle A, Cox DR, Myers RM. (1996) Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science 271:17311734.
  • Pennacchio LA, Bouley DM, Higgins KM, Scott MP, Noebels JL, Myers RM. (1998) Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice. Nat Genet 20:251258.
  • Persaud-Sawin DA, Mousallem T, Wang C, Zucker A, Kominami E, Boustany RM. (2007) Neuronal ceroid lipofuscinosis: a common pathway? Pediatr Res 61:146152.
  • Phillips SN, Benedict JW, Weimer JM, Pearce DA. (2005) CLN3, the protein associated with batten disease: structure, function and localization. J Neurosci Res 79:573583.
  • Puranam KL, Guo WX, Qian WH, Nikbakht K, Boustany RM. (1999) CLN3 defines a novel antiapoptotic pathway operative in neurodegeneration and mediated by ceramide. Mol Genet Metab 66:294308.
  • Ramirez-Montealegre D, Pearce DA. (2005) Defective lysosomal arginine transport in juvenile Batten disease. Hum Mol Genet 14:37593773.
  • 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. (1999) The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. Nat Genet 23:233236.
  • Rawlings ND, Barrett AJ. (1999) Tripeptidyl-peptidase I is apparently the CLN2 protein absent in classical late-infantile neuronal ceroid lipofuscinosis. Biochim Biophys Acta 1429:496500.
  • Reczek D, Schwake M, Schroder J, Hughes H, Blanz J, Jin X, Brondyk W, Van PattenS, Edmunds T, Saftig P. (2007) LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase. Cell 131:770783.
  • Rinne R, Saukko P, Jarvinen M, Lehesjoki AE. (2002) Reduced cystatin B activity correlates with enhanced cathepsin activity in progressive myoclonus epilepsy. Ann Med 34:380385.
  • Robitaille Y, Carpenter S, Karpati G, DiMauro SD. (1980) A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal processes and astrocytes: a report of four cases and a review of the occurrence of polyglucosan bodies in other conditions such as Lafora’s disease and normal ageing. Brain 103:315336.
  • Santoshkumar B, Turnbull J, Minassian BA. (2008) Unverricht-Lundborg progressive myoclonus epilepsy in Oman. Pediatr Neurol 38:252255.
  • Schulz A, Dhar S, Rylova S, Dbaibo G, Alroy J, Hagel C, Artacho I, Kohlschutter A, Lin S, Boustany RM. (2004) Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant. Ann Neurol 56:342350.
  • Shahwan A, Farrell M, Delanty N. (2005) Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects. Lancet Neurol 4:239248.
  • Shannon P, Pennacchio LA, Houseweart MK, Minassian BA, Myers RM. (2002) Neuropathological changes in a mouse model of progressive myoclonus epilepsy: cystatin B deficiency and Unverricht-Lundborg disease. J Neuropathol Exp Neurol 61:10851091.
  • Siintola E, Partanen S, Stromme P, Haapanen A, Haltia M, Maehlen J, Lehesjoki AE, Tyynela J. (2006) Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis. Brain 129:14381445.
  • Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD, Liu XQ, Wilson C, Lahtinen U, Anttonen AK, Lehesjoki AE. (2007) The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. Am J Hum Genet 81:136146.
  • Sleat DE, Gin RM, Sohar I, Wisniewski K, Sklower-Brooks S, Pullarkat RK, Palmer DN, Lerner TJ, Boustany RM, Uldall P, Siakotos AN, Donnelly RJ, Lobel P. (1999) Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. Am J Hum Genet 64:15111523.
  • Solaz-Fuster MC, Gimeno-Alcaniz JV, Ros S, Fernandez-Sanchez ME, Garcia-Fojeda B, Criado Garcia O, Vilchez D, Dominguez J, Garcia-Rocha M, Sanchez-Piris M, Aguado C, Knecht E, Serratosa J, Guinovart JJ, Sanz P, Rodriguez de Cordoba S. (2008) Regulation of glycogen synthesis by the laforin-malin complex is modulated by the AMP-activated protein kinase pathway. Hum Mol Genet 17:667678.
  • Steinfeld R, Reinhardt K, Schreiber K, Hillebrand M, Kraetzner R, Bruck W, Saftig P, Gartner J. (2006) Cathepsin D deficiency is associated with a human neurodegenerative disorder. Am J Hum Genet 78:988998.
  • Striano P, Specchio N, Biancheri R, Cannelli N, Simonati A, Cassandrini D, Rossi A, Bruno C, Fusco L, Gaggero R, Vigevano F, Bertini E, Zara F, Santorelli FM, Striano S. (2007) Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations. Epilepsy Behav 10:187191.
  • Striano P, Zara F, Turnbull J, Girard JM, Ackerley CA, Cervasio M, De Rosa G, Del Basso-DeCaro ML, Striano S, Minassian BA. (2008) Typical progression of myoclonic epilepsy of the Lafora type: a case report. Nat Clin Pract Neurol 4:106111.
  • Tagliabracci VS, Turnbull J, Wang W, Girard JM, Zhao X, Skurat AV, Delgado-Escueta AV, Minassian BA, Depaoli-Roach AA, Roach PJ. (2007) Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo. Proc Natl Acad Sci U S A 104:1926219266.
  • Turk V, Bode W. (1991) The cystatins: protein inhibitors of cysteine proteinases. FEBS Lett 285:213219.
  • Vaarmann A, Kaasik A, Zharkovsky A. (2006) Altered tryptophan metabolism in the brain of cystatin B-deficient mice: a model system for progressive myoclonus epilepsy. Epilepsia 47:16501654.
  • Vesa J, Hellsten E, Verkruyse LA, Camp LA, Rapola J, Santavuori P, Hofmann SL, Peltonen L. (1995) Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 376:584587.
  • Vilchez D, Ros S, Cifuentes D, Pujadas L, Valles J, Garcia-Fojeda B, Criado-Garcia O, Fernandez-Sanchez E, Medrano-Fernandez I, Dominguez J, Garcia-Rocha M, Soriano E, Rodriguez de Cordoba S, Guinovart JJ. (2007) Mechanism suppressing glycogen synthesis in neurons and its demise in progressive myoclonus epilepsy. Nat Neurosci 10:14071413.
  • Virtaneva K, D’Amato E, Miao J, Koskiniemi M, Norio R, Avanzini G, Franceschetti S, Michelucci R, Tassinari CA, Omer S, Pennacchio LA, Myers RM, Dieguez-Lucena JL, Krahe R, De La Chapelle A, Lehesjoki AE. (1997) Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1. Nat Genet 15:393396.
  • Wang W, Roach PJ. (2004) Glycogen and related polysaccharides inhibit the laforin dual-specificity protein phosphatase. Biochem Biophys Res Commun 325:726730.
  • Wang W, Parker GE, Skurat AV, Raben N, DePaoli-Roach AA, Roach PJ. (2006) Relationship between glycogen accumulation and the laforin dual specificity phosphatase. Biochem Biophys Res Commun 350:588592.
  • Wang J, Stuckey JA, Wishart MJ, Dixon JE. (2002) A unique carbohydrate binding domain targets the lafora disease phosphatase to glycogen. J Biol Chem 277:23772380.
  • Wang W, Lohi H, Skurat AV, DePaoli-Roach AA, Minassian BA, Roach PJ. (2007) Glycogen metabolism in tissues from a mouse model of Lafora disease. Arch Biochem Biophys 457:264269.
  • Winter E, Ponting CP. (2002) TRAM, LAG1 and CLN8: members of a novel family of lipid-sensing domains? Trends Biochem Sci 27:381383.
  • Wisniewski KE, Connell F, Kaczmarski W, Kaczmarski A, Siakotos A, Becerra CR, Hofmann SL. (1998) Palmitoyl-protein thioesterase deficiency in a novel granular variant of LINCL. Pediatr Neurol 18:119123.
  • Wisniewski KE, Zhong N, Philippart M. (2001) Pheno/genotypic correlations of neuronal ceroid lipofuscinoses. Neurology 57:576581.
  • Worby CA, Gentry MS, Dixon JE. (2006) Laforin, a dual specificity phosphatase that dephosphorylates complex carbohydrates. J Biol Chem 281:3041230418.
  • Worby CA, Gentry MS, Dixon JE. (2008) Malin decreases glycogen accumulation by promoting the degradation of protein targeting to glycogen (PTG). J Biol Chem 283:40694076.
  • Yamada M, Shimohata M, Sato T, Tsuji S, Takahashi H. (2006) Polyglutamine disease: recent advances in the neuropathology of dentatorubral-pallidoluysian atrophy. Neuropathology 26:346351.