Recent Publications on NCL


The following recent NCL publications are arranged into categories. You can choose these categories that are listed on the left side by clicking on them. The most recent articles are at the top of each category. Most publications have a link

(written in blue). The link will lead you to the PubMed website of the National Library of Medicine. Here you can read the abstract of the publication and, if your computer has access to the journal, download the entire article.

Please note that these articles by no means represent a complete recent listing. They are taken only from peer-reviewed journals, and are intended as a mix of the types of articles and types of science used. It is just a guide.

(Last update April 15, 2007)



NCL General

Kohlschütter A, Goebel HH, Schulz A, Lukacs Z.

Die neuronalen Ceroid-Lipofuszinosen: Demenzerkrankungen bei Kindern und Jugendlichen.

Deutsches Ärzteblatt 102, Ausgabe 5 vom 04.02.2005, Seite A-284.

Goebel HH, Wisniewski KE.

Current state of clinical and morphological features in human NCL.

Brain Pathol. 2004;14:61-69.

Mole SE.

The genetic spectrum of human neuronal ceroid lipofuscinoses.

Brain Pathol. 2004;14:70-76.

Ezaki J, Kominami E.

The intracellular location and function of proteins of neuronal ceroid lipofuscinoses.

Brain Pathol. 2004;14:77-85.

Mitchison HM, Lim MJ, Cooper JD.

Selectivity and types of cells death in the neuronal ceroid lipofuscinoses.

Brain Pathol. 2004;14:86-96.

Sinha S, Satishchandra P, Santosh V, Gayatri N, Shankar SK.

Neuronal ceroid lipofuscinosis: a clinicopathological study.

Seizure 2004;13:235-240.

Topcu M, Tan H, Yalnizoglu D, Usubutun A, Saatci I, Aynaci M, Anlar B, Topaloglu H, Turanli G, Kose G, Aysun S.

Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies.
Turk J Pediatr. 2004;46(1):1-10

Haltia M.

The neuronal ceroid-lipofuscinoses.

J Neuropathol Exp Neurol 2003;62:1-13.

Teixeira C, Guimaraes A, Bessa C, Ferreira MJ, Lopes L, Pinto E, Pinto R, Boustany RM, Sa Miranda MC, Ribeiro MG.

Cliinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population.

J Neurol 2003;250:661-617.

Cooper JD.

Progress towards understanding the neurobiology of Batten disease or neuronal ceroid lipofuscinosis.

Curr Opin Neurol 2003;16:121-128.

Weimer JM, Kriscenski-Perry E, Elshatory Y, Pearce DA.

The neuronal ceroid lipofuscinoses: mutations in different proteins result in similar disease.

Neuromolecular Med 2002;1:111-124.

Dahr 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.

An Neurol 2002;51:448-466.

Sayit E, Yorulmaz I, Bekis R, Kaya G, Gumuser FG, Dirik E, Durak H.

Comparison of brain perfusion SPECT and MRI findings in children with neuronal ceroid-lipofuscinosis and in their families.
Ann Nucl Med. 2002 May;16(3):201-6.

Goebel HH, Kohlschuetter A.

Dementia in the neuronal ceroid-lipofuscinoses.

Adv Exp Med Biol 2001;487:211-217.

Gardiner RM.

The molecualr genetic basis of the neuronal ceroid lipofuscinoses.

Neurol Sci 2000;21:S15-19 (Review).

Santavuori P, Lauronen L, Kirveskari K, Aberg L, Sainio K.

Neuronal ceroid lipofuscinoses in childhood.

Suppl Clin Neurophysiol 2000;53:443-451.

Goebel HH.

Morphological aspects of the neuronal ceroid lipofuscinoses.
Neurol Sci. 2000;21(3 Suppl):S27-33. Review.

Mole SE, Gardiner M.

Molecular genetic analysis of neuronal ceroid lipofuscinosis.
Int J Neurol. 1991-1992;25-26:52-9. Review

Goebel HH, Mole SE, Lake BD (Eds.).

The neuronal ceroid lipofuscinoses (Batten disease). Amsterdam: IOS Press, 1999.

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Infantile NCL / CLN1

Sitter B, Autti T, Tyynela J, Sonnewald U, Bathen TF, Puranen J, Santavuori P, Haltia MJ, Paetau A, Polvikoski T, Gribbestad IS, Hakkinen AM.

High-resolution magic angle spinning and 1H magnetic resonance spectroscopy reveal significantly altered neuronal metabolite profiles in CLN1 but not in CLN3.
J Neurosci Res. 2004 ;77(5):762-9.

Weleber RG, Gupta N, Trzupek KM, Wepner MS, Kurz DE, Milam AH.

Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease).
Mol Genet Metab. 2004;83(1-2):128-37.

Vanhanen SL, Puranen J, Autti T, Raininko R, Liewendahl K, Nikkinen P, Santavuori P, Suominen P, Vuori K, Hakkinen AM.

Neuroradiological findings (MRS, MRI, SPECT) in infantile neuronal ceroid-lipofuscinosis (infantile CLN1) at different stages of the disease.
Neuropediatrics. 2004b;35(1):27-35.

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;278(39):37957-64.

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;49(3):509-11.

Ahtiainen L, Van Diggelen OP, Jalanko A, Kopra O.

Palmitoyl protein thioesterase 1 is targeted to the axons in neurons.
J Comp Neurol. 2003;455(3):368-77.

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;249(10):1398-400.

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;2(5):423-37. Review.

Griffey M, Bible E, Vogler C, Levy B, Gupta P, Cooper J, Sands MS.

Adeno-associated virus 2-mediated gene therapy decreases autofluorescent storage material and increases brain mass in a murine model of infantile neuronal ceroid lipofuscinosis.
Neurobiol Dis. 2004l;16(2):360-9.

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;1583(1):35-44.

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;57(8):1411-6.

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 lipofuscinocis.
Mol Cell Neurosci. 2001;18(2):131-40

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Late Infantile NCL / CLN2

Crystal RG, Sondhi D, Hackett NR, Kaminsky SM, Worgall S, Stieg P, Souweidane M, Hosain S, Heier L, Ballon D, Dinner M, Wisniewski K, Kaplitt M, Greenwald BM, Howell JD, Strybing K, Dyke J, Voss H.

Clinical protocol. Administration of a replication-deficient adeno-associated virus gene transfer vector expressing the human CLN2 cDNA to the brain of children with late infantile neuronal ceroid lipofuscinosis.
Hum Gene Ther. 2004;15(11):1131-54.

Golabek AA, Walus M, Wisniewski KE, Kida E.

Glycosaminoglycans modulate activation, activity, and stability of tripeptidyl-peptidase I in vitro and in vivo.
J Biol Chem. 2004 Dec 6; [Epub ahead of print]

Steinfeld R, Steinke HB, Isbrandt D, Kohlschutter A, Gartner J.

Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes.
Hum Mol Genet. 2004;13(20):2483-91.

Kopan S, Sivasubramaniam U, Warburton MJ.

The lysosomal degradation of neuromedin B is dependent on tripeptidyl peptidase-I: evidence for the impairment of neuropeptide degradation in late-infantile neuronal ceroid lipofuscinosis.
Biochem Biophys Res Commun. 2004;319(1):58-65.

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;14(4):1C-5C.

Wujek P, Kida E, Walus M, Wisniewski KE, Golabek AA.

N-glycosylation is crucial for folding, trafficking, and stability of human tripeptidyl-peptidase I.
J Biol Chem. 2004;279(13):12827-39.

Barisic N, Logan P, Pikija S, Skarpa D, Blau N.

R208X mutation in CLN2 gene associated with reduced cerebrospinal fluid pterins in a girl with classic late infantile neuronal ceroid lipofuscinosis.
Croat Med J. 2003;44(4):489-93.

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;10(1):34-42.

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;278(9):7135-45.

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;112(4):347-54.

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;357(Pt 1):49-55.

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Juvenile NCL / CLN3

Backman ML, Santavuori PR, Aberg LE, Aronen ET.

Psychiatric symptoms of children and adolescents with juvenile neuronal ceroid lipofuscinosis.
J Intellect Disabil Res. 2005;49(Pt 1):25-32.

Kyttala A, Yliannala K, Schu P, Jalanko A, Luzio JP.

AP-1 and AP-3 facilitate lysosomal targeting of batten disease protein CLN3 via its dileucine motif.
J Biol Chem. 2004 Dec 13; [Epub ahead of print]

Fossale E, Wolf P, Espinola JA, Lubicz-Nawrocka T, Teed AM, Gao H, Rigamonti D, Cattaneo E, MacDonald ME, Cotman SL.

Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis.
BMC Neurosci. 2004;5(1):57.

Luiro K, Yliannala K, Ahtiainen L, Maunu H, Jarvela I, Kyttala A, Jalanko A.

Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway.
Hum Mol Genet. 2004;13(23):3017-27. Epub 2004 Oct 07.

Rothberg PG, Ramirez-Montealegre D, Frazier SD, Pearce DA.

Homogeneous polymerase chain reaction nucleobase quenching assay to detect the 1-kbp deletion in CLN3 that causes Batten disease.
J Mol Diagn. 2004;6(3):260-3.

Persaud-Sawin DA, McNamara JO 2nd, Rylova S, Vandongen A, Boustany RM.

A galactosylceramide binding domain is involved in trafficking of CLN3 from golgi to rafts via recycling endosomes.
Pediatr Res. 2004;56(3):449-63.

Narayan SB, Pastor JV, Mitchison HM, Bennett MJ.

CLN3L, a novel protein related to the Batten disease protein, is overexpressed in Cln3-/- mice and in Batten disease.
Brain. 2004;127(Pt 8):1748-5.

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;76(6):862-71

Rakheja D, Narayan SB, Pastor JV, Bennett MJ.

CLN3P, the Batten disease protein, localizes to membrane lipid rafts (detergent-resistant membranes).
Biochem Biophys Res Commun. 2004;317(4):988-91.

Mao Q, Xia H, Davidson BL.

Intracellular trafficking of CLN3, the protein underlying the childhood neurodegenerative disease, Batten disease.
FEBS Lett. 2003;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;87(5):1296-308

Vercammen L, Buyse GM, Proost JE, Van Hove JL.

Neuroleptic malignant syndrome in juvenile neuronal ceroid lipofuscinosis associated with low-dose risperidone therapy.
J Inherit Metab Dis. 2003;26(6):611-2.

Mao Q, Foster BJ, Xia H, Davidson BL.

Membrane topology of CLN3, the protein underlying Batten disease.
FEBS Lett. 2003;541(1-3):40-6.

Brooks AI, Chattopadhyay S, Mitchison HM, Nussbaum RL, Pearce DA.

Functional categorization of gene expression changes in the cerebellum of a Cln3-knockout mouse model for Batten disease.
Mol Genet Metab. 2003;78(1):17-30.

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

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;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;11(18):2129-42.

Rylova SN, Amalfitano A, Persaud-Sawin DA, Guo WX, Chang J, Jansen PJ, Proia AD, Boustany RM.

The CLN3 gene is a novel molecular target for cancer drug discovery.
Cancer Res. 2002;62(3):801-8

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;10(19):2123-31.

Larsen A, Sainio K, Aberg L, Santavuori P.

Electroencephalography in juvenile neuronal ceroid lipofuscinosis: visual and quantitative analysis.
Eur J Paediatr Neurol. 2001;5 Suppl A:179-83.

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Late Infantile Finnish Variant / CLN5

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;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;113(9):1491-500.

Vesa J, Chin MH, Oelgeschlager K, Isosomppi J, DellAngelica EC, Jalanko A, Peltonen L.

Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3.
Mol Biol Cell. 2002;13(7):2410-20.

Isosomppi J, Vesa J, Jalanko A, Peltonen L.

Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein.
Hum Mol Genet. 2002;11(8):885-91.

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;16(10):707-13.

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Late Infantile Indian-Costa-Rican-Portuguese Variant / CLN6

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;298(2):399-406.

Heine C, Koch B, Storch S, Kohlschutter A, Palmer DN, Braulke T.

Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A.
J Biol Chem. 2004;279(21):22347-52.

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;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;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;21(5):502-8.

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;70(2):324-35.

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CLN7- associated Turkish Variant

Mitchell WA, Wheeler RB, Sharp JD, Bate SL, Gardiner RM, Ranta US, Lonka L, Williams RE, Lehesjoki AE, Mole SE.

Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8.
Eur J Paediatr Neurol. 2001;5 Suppl A:21-7.

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Northern Epilepsy with Mental Retardation / EPMR / CLN8

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;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;23(4):300-5.

Winter E, Ponting CP.

TRAM, LAG1 and CLN8: members of a novel family of lipid-sensing domains?
Trends Biochem Sci. 2002;27(8):381-3. Review.

Lauronen L, Santavuori P, Hirvasniemi A, Kirveskari E, Huttunen J, Autti T.

Northern epilepsy syndrome (NES, CLN8)--MRI and electrophysiological studies.
Eur J Paediatr Neurol. 2001;5 Suppl A:167-73.

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;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;23(2):233-6.

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Schulz A, Dhar S, Rylova S, Dbaibo G, Alroy J, Hagel C, Artacho I, Kohlschutter A, Lin S, Boustany RM.

Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant.
Ann Neurol. 2004;56(3):342-50.

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Adult NCL-Forms / CLN4

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;13(4):574-81.

Vadlamudi L, Westmoreland BF, Klass DW, Parisi JE.

Electroencephalographic findings in Kufs disease.
Clin Neurophysiol.

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;50(2):269-72.

Josephson SA, Schmidt RE, Millsap P, McManus DQ, Morris JC.

Autosomal dominant Kufs' disease: a cause of early onset dementia.
J Neurol Sci. 2001;188(1-2):51-60.

Hinkebein JH, Callahan CD.

The neuropsychology of Kuf's Disease: a case of atypical early onset dementia.
Arch Clin Neuropsychol. 1997;12(1):81-9

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Animal Models


Porter MY, Turmaine M, Mole SE.

Identification and characterization of Caenorhabditis elegans palmitoyl protein thioesterase1.
J Neurosci Res. 2005 Jan 25; [Epub ahead of print].

Jalanko A, Vesa J, Manninen T, von Schantz C, Minye H, Fabritius AL, Salonen T, Rapola J, Gentile M, Kopra O, Peltonen L.

Mice with Ppt1(Deltaex4) mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons.
Neurobiol Dis. 2005;18(1):226-41.

Griffey M, Bible E, Vogler C, Levy B, Gupta P, Cooper J, Sands MS.

Adeno-associated virus 2-mediated gene therapy decreases autofluorescent storage material and increases brain mass in a murine model of infantile neuronal ceroid lipofuscinosis.
Neurobiol Dis. 2004;16(2):360-9.

Bible E, Gupta P, Hofmann SL, Cooper JD.

Regional and cellular neuropathology in the palmitoyl protein thioesterase-1 null mutant mouse model of infantile neuronal ceroid lipofuscinosis.
Neurobiol Dis. 2004;16(2):346-59.

Cho SK, Hofmann SL.

pdf1, a palmitoyl protein thioesterase 1 Ortholog in Schizosaccharomyces pombe: a yeast model of infantile Batten disease.
Eukaryot Cell. 2004;3(2):302-10.


Sleat DE, Wiseman JA, El-Banna M, Kim KH, Mao Q, Price S, Macauley SL, Sidman RL, Shen MM, Zhao Q, Passini MA, Davidson BL, Stewart GR, Lobel P.

A mouse model of classical late-infantile neuronal ceroid lipofuscinosis based on targeted disruption of the CLN2 gene results in a loss of tripeptidyl-peptidase I activity and progressive neurodegeneration.
J Neurosci. 2004;24(41):9117-26.


Pontikis CC, Cella CV, Parihar N, Lim MJ, Chakrabarti S, Mitchison HM, Mobley WC, Rezaie P, Pearce DA, Cooper JD.

Late onset neurodegeneration in the Cln3-/- mouse model of juvenile neuronal ceroid lipofuscinosis is preceded by low level glial activation.
Brain Res. 2004;1023(2):231-42.

Sappington RM, Pearce DA, Calkins DJ.

Optic nerve degeneration in a murine model of juvenile ceroid lipofuscinosis.
Invest Ophthalmol Vis Sci. 2003;44(9):3725-31

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;11(22):2709-21.

Seigel GM, Lotery A, Kummer A, Bernard DJ, Greene ND, Turmaine M, Derksen T, Nussbaum RL, Davidson B, Wagner J, Mitchison HM.

Retinal pathology and function in a Cln3 knockout mouse model of juvenile Neuronal Ceroid Lipofuscinosis (batten disease).
Mol Cell Neurosci. 2002;19(4):515-27.



Kopra O, Vesa J, von Schantz C, Manninen T, Minye H, Fabritius AL, Rapola J, van Diggelen OP, Saarela J, Jalanko A, Peltonen L.

A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging.
Hum Mol Genet. 2004;13(23):2893-906.


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;327(2):541-7.

Guarneri R, Russo D, Cascio C, D'Agostino S, Galizzi G, Bigini P, Mennini T, Guarneri P.

Retinal oxidation, apoptosis and age- and sex-differences in the mnd mutant mouse, a model of neuronal ceroid lipofuscinosis.
Brain Res. 2004;1014(1-2):209-20.

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;16(12):2291-6

Bolivar VJ, Scott Ganus J, Messer A.

The development of behavioral abnormalities in the motor neuron degeneration (mnd) mouse.
Brain Res. 2002;937(1-2):74-82.


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