Articles from Other Scientists

 
General/NCL

 

Kay GW, Verbeek MM, Furlong JM, Willemsen MA, Palmer DN. Neuropeptide changes and neuroactive amino acids in CSF from humans and sheep with neuronal ceroid lipofuscinoses (NCLs, Batten disease). Neurochem Int. 2009 Dec; 55(8):783-8.

Kielar C, Wishart TM, Palmer A, Dihanich S, Wong AM, Macauley SL, Chan CH, Sands MS, Pearce DA, Cooper JD, Gillingwater TH. Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease. Hum Mol Genet. 2009 Nov 1;18(21):4066-80.

Jalanko A, Braulke T. Neuronal ceroid lipofuscinoses. BBA-Molecular Cell Research. April 2009; 1793(4):697-709. Review. 

Jabs S, Quitsch A, Käkelä R, Koch B, Tyynelä J, Brade H, Glatzel M, Walkley S, Saftig P, Vanier MT, Braulke T. Accumulation of bis(monoacylglycero)phosphate and gangliosides in mouse models of neuronal ceroid lipofuscinosis. J Neurochem. 2008 Aug;106(3):1415-25.

Muzaffar NE, Pearce DA. Analysis of NCL Proteins from an Evolutionary Standpoint. Curr Genomics. 2008 Apr;9(2):115-36.

Cooper J, Russell C, Mitchison H. Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis. BBA - Molecular Basis of Disease. October 2006; 1762(10):873-889.

Jalanko A, Tyynelä J, Peltonen L. From genes to systems: New global strategies for the characterization of NCL biology. BBA - Molecular Basis of Disease. October 2006; 1762(10):934-944.

Kyttälä A, Lahtinen U, Braulke T, Hofmann S. Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins. BBA - Molecular Basis of Disease. October 2006; 1762(10):920-933. Review. 

Cho S, Gao N, Pearce D, Lehrman M, Hofmann S. Characterization of lipid-linked oligosaccharide accumulation in mouse models of Batten disease. Glycobiology. June 12, 2005; 15(6):637-648.

Goebel HH, Wisniewski KE. Current state of clinical and morphological features in human NCL. Brain Pathol. 2004 Jan;14(1):61-9.

Ezaki J, Kominami E. The intracellular location and function of proteins of neuronal ceroid lipofuscinoses. Brain Pathol. 2004 Jan;14(1):77-85. Review.

Goebel HH, Wisniewski KE. Current state of clinical and morphological features in human NCL. Brain Pathol. 2004 Jan;14(1):61-9. Review.

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)


Lu JY, Hu J, Hofmann SL. Human recombinant palmitoyl-protein thioesterase-1 (PPT1) for preclinical evaluation of enzyme replacement therapy for infantile neuronal ceroid lipofuscinosis. Mol Genet Metab. 2009 Dec 5.

Levin SW, Baker EH, Gropman A, Quezado Z, Miao N, Zhang Z, Jollands A, Di Capua M, Caruso R, Mukherjee AB. Subdural fluid collections in patients with infantile neuronal ceroid lipofuscinosis. Arch Neurol. 2009 Dec; 66(12):1567-71.

Tamaki SJ, Jacobs Y, Dohse M, Capela A, Cooper JD, Reitsma M, He D, Tushinski R, Belichenko PV, Salehi A, Mobley W, Gage FH, Huhn S, Tsukamoto AS, Weissman IL, Uchida N. Neuroprotection of host cells by human central nervous system stem cells in a mouse model of infantile neuronal ceroid lipofuscinosis. Cell Stem Cell. 2009 Sep 4; 5(3):310-9.

Macauley SL, Wozniak DF, Kielar C, Tan Y, Cooper JD, Sands MS. Cerebellar pathology and motor deficits in the palmitoyl protein thioesterase 1-deficient mouse. Exp Neurol. 2009 May; 217(1):124-35.

Ohno K, Saito S, Sugawara K, Suzuki T, Togawa T, Sakuraba H. Structural basis of neuronal ceroid lipofuscinosis 1. Brain Dev. 2009 Sep 28.

Miao N, Levin S, Baker E, et al. Children with infantile neuronal ceroid lipofuscinosis have an increased risk of hypothermia and bradycardia during anesthesia. Anesthesia and Analgesia. August 2009; 109(2):372-378.

Tardy C, Sabourdy F, Garcia V, et al. Palmitoyl protein thioesterase 1 modulates tumor necrosis factor α-induced apoptosis. BBA - Molecular Cell Research. July 2009; 1793(7):1250-1258.

Macauley S, Wozniak D, Kielar C, Tan Y, Cooper J, Sands M. Cerebellar pathology and motor deficits in the palmitoyl protein thioesterase 1-deficient mouse. Experimental Neurology. May 2009; 217(1):124-135.

Simonati A, Tessa A, Bernardina BD, Biancheri R, Veneselli E, Tozzi G, Bonsignore M, Grosso S, Piemonte F, Santorelli FM. Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations. Pediatr Neurol. 2009 Apr; 40(4):271-6.

Saha A, Kim SJ, Zhang Z, Lee YC, Sarkar C, Tsai PC, Mukherjee AB. RAGE signaling contributes to neuroinflammation in infantile neuronal ceroid lipofuscinosis. FEBS Lett. 2008 Nov 12; 582(27):3823-31.

Lyly A, Marjavaara SK, Kyttälä A, Uusi-Rauva K, Luiro K, Kopra O, Martinez LO, Tanhuanpää K, Kalkkinen N, Suomalainen A, Jauhiainen M, Jalanko A. Deficiency of the INCL protein Ppt1 results in changes in ectopic F1-ATP synthase and altered cholesterol metabolism. Hum Mol Genet. 2008 May 15;17(10):1406-17.

Galvin N, Vogler C, Levy B, Kovacs A, Griffey M, Sands MS. A murine model of infantile neuronal ceroid lipofuscinosis-ultrastructural evaluation of storage in the central nervous system and viscera. Pediatr Dev Pathol. 2008 May-Jun;11(3):185-92.

von Schantz C, Saharinen J, Kopra O, et al. Brain gene expression profiles of Cln1 and Cln5 deficient mice unravels common molecular pathways underlying neuronal degeneration in NCL diseases. BMC Genomics. 2008 Mar 28; 9:146.

Ahtiainen L, Kolikova J, Mutka AL, Luiro K, Gentile M, Ikonen E, Khiroug L, Jalanko A, Kopra O. Palmitoyl protein thioesterase 1 (Ppt1)-deficient mouse neurons show alterations in cholesterol metabolism and calcium homeostasis prior to synaptic dysfunction. Neurobiol Dis. 2007 Oct;28(1):52-64.

Kälviäinen R, Eriksson K, Losekoot M, et al. Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency. European Journal of Neurology.  April 2007;14(4):369-372.

Kielar C, Maddox L, Bible E, Pontikis CC, Macauley SL, Griffey MA, Wong M, Sands MS, Cooper JD. Successive neuron loss in the thalamus and cortex in a mouse model of infantile neuronal ceroid lipofuscinosis. Neurobiol Dis. 2007 Jan;25(1):150-62.

Lyly A, Von Schantz C, Salonen T, et al. Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1) - distinct characteristics in neurons. BMC Cell Biology. January 2007; 8:1-14.

Bonsignore M, Tessa A, Di Rosa G, et al. Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis. European Journal of Paediatric Neurology: EJPN: Official Journal of the European Paediatric Neurology Society. May 8, 2006; 10(3):154-156.

Lei B, Tullis G, Kirk M, Zhang K, Katz M. Ocular phenotype in a mouse gene knockout model for infantile neuronal ceroid lipofuscinosis. J of Neuroscience Res. October 2006; 84(5):1139-1149.

Kim SJ, Zhang Z, Lee YC, Mukherjee AB. Palmitoyl-protein thioesterase-1 deficiency leads to the activation of caspase-9 and contributes to rapid neurodegeneration in INCL. Hum Mol Genet. 2006 May 15; 15(10):1580-6.

Zhang Z, Lee YC, Kim SJ, Choi MS, Tsai PC, Xu Y, Xiao YJ, Zhang P, Heffer A, Mukherjee AB. Palmitoyl-protein thioesterase-1 deficiency mediates the activation of the unfolded protein response and neuronal apoptosis in INCL. Hum Mol Genet. 2006 Jan 15; 15(2):337-46.

Virmani T, Gupta P, Liu X, Kavalali ET, Hofmann SL. Progressively reduced synaptic vesicle pool size in cultured neurons derived from neuronal ceroid lipofuscinosis-1 knockout mice. Neurobiol Dis. 2005 Nov; 20(2):314-23.

Griffey M, Macauley SL, Ogilvie JM, Sands MS. AAV2-mediated ocular gene therapy for infantile neuronal ceroid lipofuscinosis. Mol Ther. 2005 Sep;12(3):413-21.

Kohan R, de Halac IN, Tapia Anzolini V, Cismondi A, Oller Ramírez AM, Paschini Capra A, de Kremer RD. 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. Clin Biochem. 2005 May;38(5):492-4.

Bible E, Gupta P, Hofmann S, Cooper J. Regional and cellular neuropathology in the palmitoyl protein thioesterase-1 null mutant mouse model of infantile neuronal ceroid lipofuscinosis. Neurobiology of Disease. July 2004; 16(2):346-359.

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.

Vanhanen S, Puranen J, Autti T, et al. Neuroradiological findings (MRS, MRI, SPECT) in infantile neuronal ceroid-lipofuscinosis (infantile CLN1) at different stages of the disease. Neuropediatrics. February 2004; 35(1):27-35.

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)

 

Kay GW, Verbeek MM, Furlong JM, Willemsen MA, Palmer DN. Neuropeptide changes and neuroactive amino acids in CSF from humans and sheep with neuronal ceroid lipofuscinoses (NCLs, Batten disease). Neurochem Int. 2009 Dec;55(8):783-8.

Goldberg-Stern H, Halevi A, Marom D, Straussberg R, Mimouni-Bloch A. Late Infantile Neuronal Ceroid Lipofuscinosis: A New Mutation in Arabs. Pediatric Neurology. October 2009; 41(4):297-300.

Autefage H, Albinet V, Garcia V, Berges H, Nicolau ML, Therville N, Altié MF, Caillaud C, Levade T, Andrieu-Abadie N. Lysosomal serine protease CLN2 regulates tumor necrosis factor-alpha-mediated apoptosis in a Bid-dependent manner. J Biol Chem. 2009 Apr 24; 284(17):11507-16.

Guhaniyogi J, Sohar I, Das K, Stock AM, Lobel P. Crystal structure and autoactivation pathway of the precursor form of human tripeptidyl-peptidase 1, the enzyme deficient in Late Infantile Ceroid Lipofuscinosis. J Biol Chem; 2009 Feb 6, Vol. 284(6), p3985-3997.

Sondhi D, Peterson DA, Edelstein AM, del Fierro K, Hackett NR, Crystal RG. Survival advantage of neonatal CNS gene transfer for late infantile neuronal ceroid lipofuscinosis. Exp Neurol. 2008 Sep; 213(1):18-27.

Koul R, Al-Futaisi A, Ganesh A, Rangnath Bushnarmuth S. Late-infantile neuronal ceroid lipofuscinosis (CLN2/Jansky-Bielschowsky type) in Oman. J Child Neurol. 2007 May;22(5):555-9.

Passini MA, Dodge JC, Bu J, Yang W, Zhao Q, Sondhi D, Hackett NR, Kaminsky SM, Mao Q, Shihabuddin LS, Cheng SH, Sleat DE, Stewart GR, Davidson BL, Lobel P, Crystal RG. Intracranial delivery of CLN2 reduces brain pathology in a mouse model of classical late infantile neuronal ceroid lipofuscinosis. J Neurosci. 2006 Feb 1;26(5):1334-42.

Kohan R, de Halac IN, Tapia Anzolini V, Cismondi A, Oller Ramírez AM, Paschini Capra A, de Kremer RD. 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. Clin Biochem. 2005 May; 38(5):492-4.

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)

 

Sarpong A, Schottmann G, Rüther K, et al. Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X). Clinical Genetics. July 2009; 76(1):38-45.

Codlin S, Mole S. S. pombe btn1, the orthologue of the Batten disease gene CLN3, is required for vacuole protein sorting of Cpy1p and Golgi exit of Vps10p. Journal of Cell Science. April 15, 2009; 122(8):12.

Tuxworth RI, Vivancos V, O'Hare MB, Tear G. Interactions between the juvenile Batten disease gene, CLN3, and the Notch and JNK signalling pathways. Hum Mol Genet. 2009 Feb 15;18(4):667-78.

Metcalf D, Calvi A, Seaman M, Mitchison H, Cutler D. Loss of the Batten Disease Gene CLN3 Prevents Exit from the TGN of the Mannose 6-Phosphate Receptor. Traffic. November 2008; 9(11):1905-1914.

Uusi-Rauva K, Luiro K, Tanhuanpää K, et al. Novel interactions of CLN3 protein link Batten disease to dysregulation of fodrin–Na+, K+ ATPase complex. Experimental Cell Research. September 10, 2008; 314(15):2895-2905.

Cooper J. Moving towards therapies for Juvenile Batten disease?. Experimental Neurology. June 2008:329, 331.

Katz M, Johnson G, Tullis G, Lei B. Phenotypic characterization of a mouse model of juvenile neuronal ceroid lipofuscinosis. Neurobiology of Disease. February 2008; 29(2):242-253.

Eliason S, Stein C, Qinwen M, et al. A knock-in reporter model of Batten disease. Journal of Neuroscience. September 12, 2007; 27(37):9826-9834.

Wendt KD, Lei B, Schachtman TR, Tullis GE, Ibe ME, Katz ML. Behavioral assessment in mouse models of neuronal ceroid lipofuscinosis using a light-cued T-maze. Behav Brain Res. 2005 Jun 20; 161(2):175-82.

Fossale E, Wolf P, Espinola J, et al. Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis. BMC Neuroscience. January 2004; 5:57-13.

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)


Lewandowska E, Lipczynska-Lojkowska W, Modzelewska J, Wierzba-Bobrowicz T, Mierzewska H, Szpak GM, Passenik E, Jachi?ska K. Kufs' disease: diagnostic difficulties in the examination of extracerebral biopsies. Folia Neuropathol. 2009; 47(3):259-67.

Robertson T, Tannenberg AE, Hiu J, Reimers J. 53-year-old man with rapid cognitive decline. Brain Pathol. 2008 Apr;18(2):292-4.

Gdynia HJ, Sperfeld AD, Ludolph AC. [Adult-onset neuronal ceroid lipofuscinosis] Nervenarzt. 2007 Feb;78(2):139-40, 142-4. Review. German.

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)

 

Xin W, Mullen TE, Kiely R, Min J, Feng X, Cao Y, O'Malley L, Shen Y, Chu-Shore C, Mole SE, Goebel HH, Sims K. CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL. Neurology. 2010 Feb 16; 74(7):565-71.

Schmiedt ML, Bessa C, Heine C, Gil Ribeiro M, Jalanko A, Kyttälä A. The neuronal ceroid lipofuscinosis protein CLN5: New insights into cellular maturation, transport and consequences of mutations. Hum Mutat. 2010 Jan 5.

Lyly A, von Schantz C, Heine C, Schmiedt ML, Sipila T, Jalanko A, Kyttälä A. Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins. BMC Cell Biol. 2009 Nov 26;10(1):83.

Schantz C, Kielar C, Hansen SN, Pontikis CC, Alexander NA, Kopra O, Jalanko A, Cooper JD. Progressive thalamocortical neuron loss in Cln5 deficient mice: Distinct effects in Finnish variant late infantile NCL. Neurobiol Dis. 2009 May;34(2):308-19.

Lebrun A, Storch S, Rüschendorf F, et al. Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship. Human Mutation. May 2009;30(5):E651-61.

Argaw AT, Gurfein BT, Zhang Y, Zameer A, John GR. VEGF-mediated disruption of endothelial CLN-5 promotes blood-brain barrier breakdown. Proc Natl Acad Sci U S A. 2009 Feb 10;106(6):1977-82.

von Schantz C, Saharinen J, Kopra O, Cooper JD, Gentile M, Hovatta I, Peltonen L, Jalanko A. Brain gene expression profiles of Cln1 and Cln5 deficient mice unravels common molecular pathways underlying neuronal degeneration in NCL diseases. BMC Genomics. 2008 Mar 28;9:146.

Frugier T, Mitchell NL, Tammen I, Houweling PJ, Arthur DG, Kay GW, van Diggelen OP, Jolly RD, Palmer DN. A new large animal model of CLN5 neuronal ceroid lipofuscinosis in Borderdale sheep is caused by a nucleotide substitution at a consensus splice site (c.571+1G>A) leading to excision of exon 3. Neurobiol Dis. 2008 Feb;29(2):306-15.

Cannelli N, Nardocci N, Cassandrini D, Morbin M, Aiello C, Bugiani M, Criscuolo L, Zara F, Striano P, Granata T, Bertini E, Simonati A, Santorelli FM. Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis. Neuropediatrics. 2007 Feb;38(1):46-9.

Bessa C, Teixeira CA, Mangas M, Dias A, Sá Miranda MC, Guimarães A, Ferreira JC, Canas N, Cabral P, Ribeiro MG. Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency. Mol Genet Metab. 2006 Nov; 89(3):245-53.

Houweling PJ, Cavanagh JA, Palmer DN, Frugier T, Mitchell NL, Windsor PA, Raadsma HW, Tammen I. Neuronal ceroid lipofuscinosis in Devon cattle is caused by a single base duplication (c.662dupG) in the bovine CLN5 gene. Biochim Biophys Acta. 2006 Oct;1762(10):890-7.

Melville SA, Wilson CL, Chiang CS, Studdert VP, Lingaas F, Wilton AN. A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs. Genomics. 2005 Sep;86(3):287-94.

Pineda-Trujillo N, Cornejo W, Carrizosa J, Wheeler RB, Múnera S, Valencia A, Agudelo-Arango J, Cogollo A, Anderson G, Bedoya G, Mole SE, Ruíz-Linares A. A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset. Neurology. 2005 Feb 22;64(4):740-2.

Kopra O, Vesa J, von Schantz C, et al. A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging. Human Molecular Genetics. December 1, 2004; 13(23):2893-2906.

Holmberg V, Jalanko A, Isosomppi J, Fabritius AL, Peltonen L, Kopra O. The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain. Neurobiol Dis. 2004 Jun; 16(1):29-40.

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)

 

Kay GW, Verbeek MM, Furlong JM, Willemsen MA, Palmer DN. Neuropeptide changes and neuroactive amino acids in CSF from humans and sheep with neuronal ceroid lipofuscinoses (NCLs, Batten disease). Neurochem Int. 2009 Dec;55(8):783-8.

Al-Muhaizea MA, Al-Hassnan ZN, Chedrawi A. Variant late infantile neuronal ceroid lipofuscinosis (CLN6 gene) in Saudi Arabia. Pediatr Neurol. 2009 Jul;41(1):74-6. Review.

Benedict JW, Getty AL, Wishart TM, Gillingwater TH, Pearce DA. Protein product of CLN6 gene responsible for variant late-onset infantile neuronal ceroid lipofuscinosis interacts with CRMP-2. J Neurosci Res. 2009 Jul;87(9):2157-66.

Cannelli N, Garavaglia B, Simonati A, et al. Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6. Biochemical & Biophysical Research Communications. February 20, 2009; 379(4):892-897.

Cismondi IA, Kohan R, Ghio A, Ramirez AM, Halac IN. Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late Infantile. Hum Genet. 2008 Oct;124(3):324.

Oresic K, Mueller B, Tortorella D. Cln6 mutants associated with neuronal ceroid lipofuscinosis are degraded in a proteasome-dependent manner. Biosci Rep. 2009 Jun;29(3):173-81.

Oswald MJ, Palmer DN, Kay GW, Barwell KJ, Cooper JD. Location and connectivity determine GABAergic interneuron survival in the brains of South Hampshire sheep with CLN6 neuronal ceroid lipofuscinosis. Neurobiol Dis. 2008 Oct;32(1):50-65.

Pears MR, Salek RM, Palmer DN, Kay GW, Mortishire-Smith RJ, Griffin JL. Metabolomic investigation of CLN6 neuronal ceroid lipofuscinosis in affected South Hampshire sheep. J Neurosci Res. 2007 Nov 15;85(15):3494-504.

Heine C, Quitsch A, Storch S, Martin Y, Lonka L, Lehesjoki AE, Mole SE, Braulke T. Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6. Mol Membr Biol. 2007 Jan-Feb;24(1):74-87.

Tammen I, Houweling PJ, Frugier T, Mitchell NL, Kay GW, Cavanagh JA, Cook RW, Raadsma HW, Palmer DN. A missense mutation (c.184C>T) in ovine CLN6 causes neuronal ceroid lipofuscinosis in Merino sheep whereas affected South Hampshire sheep have reduced levels of CLN6 mRNA. Biochim Biophys Acta. 2006 Oct;1762(10):898-905.

Teixeira CA, Lin S, Mangas M, Quinta R, Bessa CJ, Ferreira C, Sá Miranda MC, Boustany RM, Ribeiro MG. Gene expression profiling in vLINCL CLN6-deficient fibroblasts: Insights into pathobiology. Biochim Biophys Acta. 2006 Jul;1762(7):637-46.

Kay GW, Palmer DN, Rezaie P, Cooper JD. Activation of non-neuronal cells within the prenatal developing brain of sheep with neuronal ceroid lipofuscinosis. Brain Pathol. 2006 Apr;16(2):110-6.

Oswald MJ, Palmer DN, Kay GW, Shemilt SJ, Rezaie P, Cooper JD. Glial activation spreads from specific cerebral foci and precedes neurodegeneration in presymptomatic ovine neuronal ceroid lipofuscinosis (CLN6). Neurobiol Dis. 2005 Oct;20(1):49-63.

Siintola E, Topcu M, Kohlschütter A, Salonen T, Joensuu T, Anttonen AK, Lehesjoki AE. Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin. Clin Genet. 2005 Aug;68(2):167-73.

Mole SE, Michaux G, Codlin S, Wheeler RB, Sharp JD, Cutler DF. CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein. Exp Cell Res. 2004 Aug 15;298(2):399-406.

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.

 
CLN7/MFSD8 (top)

 

Kousi M, Siintola E, Dvorakova L, Vlaskova H, Turnbull J, Topcu M, Yuksel D, Gokben S, Minassian BA, Elleder M, Mole SE, Lehesjoki AE. Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. Brain. 2009 Mar;132(Pt 3):810-9.

Aiello C, Terracciano A, Simonati A, Discepoli G, Cannelli N, Claps D, Crow YJ, Bianchi M, Kitzmuller C, Longo D, Tavoni A, Franzoni E, Tessa A, Veneselli E,Boldrini R, Filocamo M, Williams RE, Bertini ES, Biancheri R, Carrozzo R, Mole SE, Santorelli FM. Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. Hum Mutat. 2009 Mar; 30(3):E530-40.

 Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD, Liu XQ, Wilson C, Lahtinen U, Anttonen AK, Lehesjoki AE. The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. Am J Hum Genet. 2007 Jul;81(1):136-46.


CLN8/EPMR (top)


Reinhardt K, Grapp M, Schlachter K, Brück W, Gärtner J, Steinfeld R. Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis. Clin Genet. 2009 Oct 6. [Epub ahead of print]

Vantaggiato C, Redaelli F, Falcone S, et al. A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function. Human Mutation . July 2009;30(7):1104-1116.

Zelnik N, Mahajna M, Iancu TC, Sharony R, Zeigler M. A novel mutation of the CLN8 gene: is there a Mediterranean phenotype? Pediatr Neurol. 2007 Jun;36(6):411-3.

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. Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations. Epilepsy Behav. 2007 Feb;10(1):187-91.

Cannelli N, Cassandrini D, Bertini E, Striano P, Fusco L, Gaggero R, Specchio N, Biancheri R, Vigevano F, Bruno C, Simonati A, Zara F, Santorelli FM. Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean. Neurogenetics. 2006 May; 7(2):111-7.

Hermansson M, Käkelä R, Berghäll M, Lehesjoki AE, Somerharju P, Lahtinen U. Mass spectrometric analysis reveals changes in phospholipid, neutral sphingolipid and sulfatide molecular species in progressive epilepsy with mental retardation, EPMR, brain: a case study. J Neurochem. 2005 Nov; 95(3):609-17.

Lonka L, Aalto A, Kopra O, Kuronen M, Kokaia Z, Saarma M, Lehesjoki AE. The neuronal ceroid lipofuscinosis Cln8 gene expression is developmentally regulated in mouse brain and up-regulated in the hippocampal kindling model of epilepsy. BMC Neurosci. 2005 Apr 13;6:27.

Katz ML, Khan S, Awano T, Shahid SA, Siakotos AN, Johnson GS. A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis. Biochem Biophys Res Commun. 2005 Feb 11;327(2):541-7.

Lonka L, Salonen T, Siintola E, Kopra O, Lehesjoki AE, Jalanko A. Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells. J Neurosci Res. 2004 Jun 15;76(6):862-71.

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.


CLN10 (top)


Fritchie K, Siintola E, Armao D, et al. Novel mutation and the first prenatal screening for cathepsin D deficiency (CLN10). Acta Neuropathologica. February 2009; 117(2):201-208.