Cln3

Summary

Gene Symbol: Cln3
Description: ceroid lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)
Alias: AI323623, battenin
Species: mouse
Products:     Cln3

Top Publications

  1. Eliason S, Stein C, Mao Q, Tecedor L, Ding S, Gaines D, et al. A knock-in reporter model of Batten disease. J Neurosci. 2007;27:9826-34 pubmed
    Juvenile neuronal ceroid lipofuscinosis is a severe inherited neurodegenerative disease resulting from mutations in CLN3 (ceroid-lipofuscinosis, neuronal 3, juvenile)...
  2. Staropoli J, Haliw L, Biswas S, Garrett L, Holter S, Becker L, et al. Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system. PLoS ONE. 2012;7:e38310 pubmed publisher
    b>Cln3(?ex7/8) mice harbor the most common genetic defect causing juvenile neuronal ceroid lipofuscinosis (JNCL), an autosomal recessive disease involving seizures, visual, motor and cognitive decline, and premature death...
  3. Fossale E, Wolf P, Espinola J, Lubicz Nawrocka T, Teed A, Gao H, et al. Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis. BMC Neurosci. 2004;5:57 pubmed
    ..The resulting loss of battenin activity leads to deposition of mitochondrial ATP synthase, subunit c and a specific loss of CNS neurons...
  4. Pontikis C, Cella C, Parihar N, Lim M, Chakrabarti S, Mitchison H, et al. Late onset neurodegeneration in the Cln3-/- mouse model of juvenile neuronal ceroid lipofuscinosis is preceded by low level glial activation. Brain Res. 2004;1023:231-42 pubmed
    ..To explore this issue we undertook detailed morphological characterization of the Cln3 null mutant (Cln3(-/-)) mouse model of juvenile NCL (JNCL) that revealed a delayed onset neurodegenerative ..
  5. Finn R, Kovács A, Pearce D. Altered sensitivity of cerebellar granule cells to glutamate receptor overactivation in the Cln3(?ex7/8)-knock-in mouse model of juvenile neuronal ceroid lipofuscinosis. Neurochem Int. 2011;58:648-55 pubmed publisher
    ..JNCL results from mutations in the CLN3 gene that encodes a lysosomal membrane protein with unknown function...
  6. Weimer J, Benedict J, Getty A, Pontikis C, Lim M, Cooper J, et al. Cerebellar defects in a mouse model of juvenile neuronal ceroid lipofuscinosis. Brain Res. 2009;1266:93-107 pubmed publisher
    ..ceroid lipofuscinosis (JNCL), or Batten disease, is a neurodegenerative disease resulting from a mutation in CLN3, which presents clinically with visual deterioration, seizures, motor impairments, cognitive decline, ..
  7. Pears M, Cooper J, Mitchison H, Mortishire Smith R, Pearce D, Griffin J. High resolution 1H NMR-based metabolomics indicates a neurotransmitter cycling deficit in cerebral tissue from a mouse model of Batten disease. J Biol Chem. 2005;280:42508-14 pubmed
    ..in conjunction with statistical pattern recognition, we report metabolic deficits associated with juvenile NCL in a Cln3 knock-out mouse model...
  8. Chan C, Mitchison H, Pearce D. Transcript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse models. Hum Mol Genet. 2008;17:3332-9 pubmed publisher
    ..Mutations within the CLN3 gene, which encodes a putative lysosomal protein of unknown function, are the underlying cause of JNCL...
  9. Pontikis C, Cotman S, MacDonald M, Cooper J. Thalamocortical neuron loss and localized astrocytosis in the Cln3Deltaex7/8 knock-in mouse model of Batten disease. Neurobiol Dis. 2005;20:823-36 pubmed
    Juvenile neuronal ceroid lipofuscinosis (JNCL) is the result of mutations in the Cln3 gene...

More Information

Publications73

  1. Cao Y, Espinola J, Fossale E, Massey A, Cuervo A, MacDonald M, et al. Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis. J Biol Chem. 2006;281:20483-93 pubmed
    ..neuronal ceroid lipofuscinosis is caused by mutation of a novel, endosomal/lysosomal membrane protein encoded by CLN3. The observation that the mitochondrial ATPase subunit c protein accumulates in this disease suggests that ..
  2. Cotman S, Vrbanac V, Lebel L, Lee R, Johnson K, Donahue L, et al. Cln3(Deltaex7/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth. Hum Mol Genet. 2002;11:2709-21 pubmed
    ..of the disease are due to recessive inheritance of an approximately 1 kb deletion in the CLN3 gene, encoding battenin. To investigate the common JNCL mutation, we have introduced an identical genomic DNA deletion into the murine ..
  3. Rusyn E, Mousallem T, Persaud Sawin D, Miller S, Boustany R. CLN3p impacts galactosylceramide transport, raft morphology, and lipid content. Pediatr Res. 2008;63:625-31 pubmed publisher
    ..JNCL is caused by CLN3 gene mutations that negatively modulate cell growth/apoptosis...
  4. Katz M, Johnson G, Tullis G, Lei B. Phenotypic characterization of a mouse model of juvenile neuronal ceroid lipofuscinosis. Neurobiol Dis. 2008;29:242-53 pubmed
    ..JNCL) is an autosomal recessively inherited neurodegenerative disorder that results from mutations in the CLN3 gene...
  5. Uusi Rauva K, Luiro K, Tanhuanpää K, Kopra O, Martín Vasallo P, Kyttälä A, et al. Novel interactions of CLN3 protein link Batten disease to dysregulation of fodrin-Na+, K+ ATPase complex. Exp Cell Res. 2008;314:2895-905 pubmed publisher
    ..b>CLN3, the transmembrane protein underlying JNCL, is proposed to participate in multiple cellular events including ..
  6. Chan C, Ramirez Montealegre D, Pearce D. Altered arginine metabolism in the central nervous system (CNS) of the Cln3-/- mouse model of juvenile Batten disease. Neuropathol Appl Neurobiol. 2009;35:189-207 pubmed publisher
    ..Batten disease is a recessively inherited childhood neurodegenerative disorder resulting from a mutation in CLN3, which encodes a putative lysosomal protein of unknown function...
  7. Getty A, Benedict J, Pearce D. A novel interaction of CLN3 with nonmuscle myosin-IIB and defects in cell motility of Cln3(-/-) cells. Exp Cell Res. 2011;317:51-69 pubmed publisher
    ..by accumulation of autofluorescent storage material and neurodegeneration, which result from mutations in CLN3. The function of CLN3, a lysosomal membrane protein, is currently unknown...
  8. Ezaki J, Takeda Ezaki M, Koike M, Ohsawa Y, Taka H, Mineki R, et al. Characterization of Cln3p, the gene product responsible for juvenile neuronal ceroid lipofuscinosis, as a lysosomal integral membrane glycoprotein. J Neurochem. 2003;87:1296-308 pubmed
    ..lipofuscinosis (JNCL) is an autosomal recessively inherited lysosomal storage disease involving a mutation in the CLN3 gene...
  9. Kovács A, Saje A, Wong A, Ramji S, Cooper J, Pearce D. Age-dependent therapeutic effect of memantine in a mouse model of juvenile Batten disease. Neuropharmacology. 2012;63:769-75 pubmed publisher
    ..no treatment for juvenile Batten disease, a fatal childhood neurodegenerative disorder caused by mutations in the CLN3 gene. The Cln3-knockout (Cln3(?ex1-6)) mouse model recapitulates several features of the human disorder...
  10. Song J, Misgeld T, Kang H, Knecht S, Lu J, Cao Y, et al. Lysosomal activity associated with developmental axon pruning. J Neurosci. 2008;28:8993-9001 pubmed publisher
    ..We propose that lysosomal activity is a central feature of synapse elimination. Moreover, staining for lysosomal activity may serve as a marker for regions of the developing nervous system undergoing axon pruning. ..
  11. Lim M, Alexander N, Benedict J, Chattopadhyay S, Shemilt S, Guerin C, et al. IgG entry and deposition are components of the neuroimmune response in Batten disease. Neurobiol Dis. 2007;25:239-51 pubmed
    ..Here we investigate the adaptive component of the neuroimmune response. Cln3(-/-) mice have autoantibodies to GAD65 in their cerebrospinal fluid and elevated levels of brain bound ..
  12. Castaneda J, Pearce D. Identification of alpha-fetoprotein as an autoantigen in juvenile Batten disease. Neurobiol Dis. 2008;29:92-102 pubmed
    ..autoimmunity against glutamic acid decarboxylase has been described in juvenile Batten disease patients and in the Cln3(-/-) mouse model...
  13. Osório N, Sampaio Marques B, Chan C, Oliveira P, Pearce D, Sousa N, et al. Neurodevelopmental delay in the Cln3Deltaex7/8 mouse model for Batten disease. Genes Brain Behav. 2009;8:337-45 pubmed publisher
    ..Mutations in CLN3 are known to cause the disease, allowing the generation of mouse models that are powerful tools for JNCL research...
  14. Mitchison H, Bernard D, Greene N, Cooper J, Junaid M, Pullarkat R, et al. Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. The Batten Mouse Model Consortium [corrected]. Neurobiol Dis. 1999;6:321-34 pubmed
    ..Mutations in the CLN3 gene cause Batten disease...
  15. Chattopadhyay S, Ito M, Cooper J, Brooks A, Curran T, Powers J, et al. An autoantibody inhibitory to glutamic acid decarboxylase in the neurodegenerative disorder Batten disease. Hum Mol Genet. 2002;11:1421-31 pubmed
    Mutations in the CLN3 gene are responsible for the neurodegenerative disorder Batten disease; however, the molecular basis of this disease remains unknown...
  16. Tecedor L, Stein C, Schultz M, Farwanah H, Sandhoff K, Davidson B. CLN3 loss disturbs membrane microdomain properties and protein transport in brain endothelial cells. J Neurosci. 2013;33:18065-79 pubmed publisher
    ..is a fatal childhood-onset neurodegenerative disorder caused by mutations in ceroid lipofuscinosis neuronal-3 (CLN3), a hydrophobic transmembrane protein of unresolved function...
  17. Palmieri M, Pal R, Nelvagal H, Lotfi P, Stinnett G, Seymour M, et al. mTORC1-independent TFEB activation via Akt inhibition promotes cellular clearance in neurodegenerative storage diseases. Nat Commun. 2017;8:14338 pubmed publisher
    ..These findings open new perspectives for the clinical translation of TFEB-mediated enhancement of cellular clearance in neurodegenerative storage diseases. ..
  18. Stein C, Yancey P, Martins I, Sigmund R, Stokes J, Davidson B. Osmoregulation of ceroid neuronal lipofuscinosis type 3 in the renal medulla. Am J Physiol Cell Physiol. 2010;298:C1388-400 pubmed publisher
    Recessive inheritance of mutations in ceroid neuronal lipofuscinosis type 3 (CLN3) results in juvenile neuronal ceroid lipofuscinosis (JNCL), a childhood neurodegenerative disease with symptoms including loss of vision, seizures, and ..
  19. Weimer J, Custer A, Benedict J, Alexander N, Kingsley E, Federoff H, et al. Visual deficits in a mouse model of Batten disease are the result of optic nerve degeneration and loss of dorsal lateral geniculate thalamic neurons. Neurobiol Dis. 2006;22:284-93 pubmed
    ..Juvenile neuronal ceroid lipofuscinosis (JNCL) is an autosomal recessive disorder of childhood caused by mutations in CLN3. Although visual deterioration is typically the first clinical sign to manifest in affected children, loss of Cln3 ..
  20. Lyly A, von Schantz C, Heine C, Schmiedt M, Sipilä T, Jalanko A, et al. Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins. BMC Cell Biol. 2009;10:83 pubmed publisher
    ..We found that CLN5 interacts with several other NCL proteins namely, CLN1/PPT1, CLN2/TPP1, CLN3, CLN6 and CLN8...
  21. Rakheja D, Narayan S, Bennett M. The function of CLN3P, the Batten disease protein. Mol Genet Metab. 2008;93:269-74 pubmed
  22. Taschner P, de Vos N, Breuning M. Cross-species homology of the CLN3 gene. Neuropediatrics. 1997;28:18-20 pubmed
    A murine cDNA clone was isolated by screening a mouse cDNA library with the human CLN3 cDNA. Sequence analysis indicates that the corresponding CLN3 proteins are highly homologous...
  23. Wendt K, Lei B, Schachtman T, Tullis G, Ibe M, Katz M. Behavioral assessment in mouse models of neuronal ceroid lipofuscinosis using a light-cued T-maze. Behav Brain Res. 2005;161:175-82 pubmed
    ..variant of late infantile NCL (CLN8), and the more recently generated models for the infantile (CLN1) and juvenile (CLN3) forms of NCL...
  24. Brooks A, Chattopadhyay S, Mitchison H, Nussbaum R, Pearce D. Functional categorization of gene expression changes in the cerebellum of a Cln3-knockout mouse model for Batten disease. Mol Genet Metab. 2003;78:17-30 pubmed
    ..The disease is inherited in an autosomal recessive manner and is the result of mutations in the CLN3 gene. One brain region severely affected in Batten disease is the cerebellum...
  25. Burkovetskaya M, Karpuk N, Xiong J, Bosch M, Boska M, Takeuchi H, et al. Evidence for aberrant astrocyte hemichannel activity in Juvenile Neuronal Ceroid Lipofuscinosis (JNCL). PLoS ONE. 2014;9:e95023 pubmed publisher
    ..Neuronal Ceroid Lipofuscinosis (JNCL) is a lysosomal storage disease caused by an autosomal recessive mutation in CLN3 that leads to vision loss, progressive cognitive and motor decline, and premature death...
  26. Sealock R, Zhang H, Lucitti J, Moore S, Faber J. Congenic fine-mapping identifies a major causal locus for variation in the native collateral circulation and ischemic injury in brain and lower extremity. Circ Res. 2014;114:660-71 pubmed publisher
  27. Mole S, Cotman S. Genetics of the neuronal ceroid lipofuscinoses (Batten disease). Biochim Biophys Acta. 2015;1852:2237-41 pubmed publisher
    ..associate with membranes (CLN4, CLN14), and many transmembrane proteins with different subcellular locations (CLN3, CLN6, CLN7, CLN8, CLN12). For most NCLs, the function of the causative gene has not been fully defined...
  28. Kovács A, Weimer J, Pearce D. Selectively increased sensitivity of cerebellar granule cells to AMPA receptor-mediated excitotoxicity in a mouse model of Batten disease. Neurobiol Dis. 2006;22:575-85 pubmed
    Batten disease, a lysosomal storage disorder, is caused by mutations in the CLN3 gene. The Cln3-knockout (Cln3-/-) mouse model of the disease exhibits many characteristic pathological features of the human disorder...
  29. Tardy C, Sabourdy F, Garcia V, Jalanko A, Therville N, Levade T, et al. Palmitoyl protein thioesterase 1 modulates tumor necrosis factor alpha-induced apoptosis. Biochim Biophys Acta. 2009;1793:1250-8 pubmed publisher
    ..in embryonic fibroblasts derived from Ppt1/Cln1-deficient mice but not from mice with a targeted deletion of Cln3 or Cln5...
  30. Kovács A, Pearce D. Finding the most appropriate mouse model of juvenile CLN3 (Batten) disease for therapeutic studies: the importance of genetic background and gender. Dis Model Mech. 2015;8:351-61 pubmed publisher
    Mutations in the CLN3 gene cause a fatal neurodegenerative disorder: juvenile CLN3 disease, also known as juvenile Batten disease...
  31. Llavero Hurtado M, Fuller H, Wong A, Eaton S, Gillingwater T, Pennetta G, et al. Proteomic mapping of differentially vulnerable pre-synaptic populations identifies regulators of neuronal stability in vivo. Sci Rep. 2017;7:12412 pubmed publisher
    ..To identify molecular modulators of synaptic stability and degeneration, we have used the Cln3 -/- mouse model of a juvenile form of NCL...
  32. Volz C, Mirza M, Langmann T, Jagle H. Retinal function in aging homozygous Cln3 (?ex7/8) knock-in mice. Adv Exp Med Biol. 2014;801:495-501 pubmed publisher
    ..It is currently unclear if the corresponding mouse model, Cln3 (?ex7/8) knock-in, develops the same retinal phenotype and electroretinogram (ERG) measurements as affected ..
  33. Weimer J, Chattopadhyay S, Custer A, Pearce D. Elevation of Hook1 in a disease model of Batten disease does not affect a novel interaction between Ankyrin G and Hook1. Biochem Biophys Res Commun. 2005;330:1176-81 pubmed
    ..A weak interaction between Hook1 and the lysosomal/late endosomal protein, CLN3, was recently reported. Mutations in CLN3 result in the neurological disorder Batten disease...
  34. Bennett M, Rakheja D. The neuronal ceroid-lipofuscinoses. Dev Disabil Res Rev. 2013;17:254-9 pubmed publisher
    ..Ten genes have been identified so far that result in an NCL (CLN1-10). The most common forms are CLN1, CLN2, and CLN3, which were previously known as Infantile, Late-Infantile, and Juvenile NCL's, respectively...
  35. Palmer D, Barry L, Tyynelä J, Cooper J. NCL disease mechanisms. Biochim Biophys Acta. 2013;1832:1882-93 pubmed publisher
    ..This article is part of a Special Issue entitled: The Neuronal Ceroid Lipofuscinoses or Batten Disease. ..
  36. Carcel Trullols J, Kovács A, Pearce D. Cell biology of the NCL proteins: What they do and don't do. Biochim Biophys Acta. 2015;1852:2242-55 pubmed publisher
    ..NCL-associated proteins have been localized mostly in lysosomes (CLN1, CLN2, CLN3, CLN5, CLN7, CLN10, CLN12 and CLN13) but also in the Endoplasmic Reticulum (CLN6 and CLN8), or in the cytosol ..
  37. Elshatory Y, Brooks A, Chattopadhyay S, Curran T, Gupta P, Ramalingam V, et al. Early changes in gene expression in two models of Batten disease. FEBS Lett. 2003;538:207-12 pubmed
    ..Infantile and juvenile NCL are inherited in an autosomal recessive manner due to mutations in the CLN1 and CLN3 genes, respectively...
  38. Groh J, Ribechini E, Stadler D, Schilling T, Lutz M, Martini R. Sialoadhesin promotes neuroinflammation-related disease progression in two mouse models of CLN disease. Glia. 2016;64:792-809 pubmed publisher
    ..We now investigated the role of the inflammation-related cell adhesion molecule sialoadhesin (Sn) in Ppt1(-/-) and Cln3(-/-) mice, a model of the most frequent form, CLN3 disease...
  39. Pearce D, McCall K, Mooney R, Chattopadhyay S, Curran T. Altered amino acid levels in sera of a mouse model for juvenile neuronal ceroid lipofuscinoses. Clin Chim Acta. 2003;332:145-8 pubmed
  40. Oetjen S, Kuhl D, Hermey G. Revisiting the neuronal localization and trafficking of CLN3 in juvenile neuronal ceroid lipofuscinosis. J Neurochem. 2016;139:456-470 pubmed publisher
    ..ceroid lipofuscinosis, the most common neurodegenerative disease affecting children, is caused by mutations of the CLN3 gene encoding CLN3, a transmembrane protein with so far undefined function...
  41. Pohl S, Mitchison H, Kohlschütter A, van Diggelen O, Braulke T, Storch S. Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue. J Neurochem. 2007;103:2177-88 pubmed
    ..disease) is a neurodegenerative disorder caused by defective function of the lysosomal membrane glycoprotein CLN3. The activity of the lysosomal acid phosphatase (LAP/ACP2) was found to be significantly increased in the ..
  42. Borgione E, Castello F, Lo Giudice M, Santa Paola S, Salvatore S, Berti G, et al. Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?. Neurol Sci. 2016;37:805-7 pubmed publisher
  43. Fabritius A, Vesa J, Minye H, Nakano I, Kornblum H, Peltonen L. Neuronal ceroid lipofuscinosis genes, CLN2, CLN3 and CLN5 are spatially and temporally co-expressed in a developing mouse brain. Exp Mol Pathol. 2014;97:484-91 pubmed publisher
    ..of the cell types that are mostly affected by defective function of CLN proteins, timing of expression of CLN2, CLN3 and CLN5 genes was investigated in developing mouse brain...
  44. Burkovetskaya M, Karpuk N, Kielian T. Age-dependent alterations in neuronal activity in the hippocampus and visual cortex in a mouse model of Juvenile Neuronal Ceroid Lipofuscinosis (CLN3). Neurobiol Dis. 2017;100:19-29 pubmed publisher
    ..Ceroid Lipofuscinosis (JNCL) is a fatal lysosomal storage disease caused by autosomal recessive mutations in CLN3. JNCL is typified by progressive neurodegeneration that has been suggested to occur from excessive excitatory and ..
  45. Schultz M, Tecedor L, Stein C, STAMNES M, Davidson B. CLN3 deficient cells display defects in the ARF1-Cdc42 pathway and actin-dependent events. PLoS ONE. 2014;9:e96647 pubmed publisher
    ..juvenile neuronal ceroid lipofuscinosis, JNCL) is a devastating neurodegenerative disease caused by mutations in CLN3, a protein of undefined function...
  46. Kovács A, Pearce D. Attenuation of AMPA receptor activity improves motor skills in a mouse model of juvenile Batten disease. Exp Neurol. 2008;209:288-91 pubmed
    Juvenile Batten disease, caused by mutations in the CLN3 gene, is a fatal, incurable neurodegenerative disorder in children...
  47. Weimer J, Benedict J, Elshatory Y, Short D, Ramirez Montealegre D, Ryan D, et al. Alterations in striatal dopamine catabolism precede loss of substantia nigra neurons in a mouse model of juvenile neuronal ceroid lipofuscinosis. Brain Res. 2007;1162:98-112 pubmed
    Batten disease, or juvenile neuronal ceroid lipofuscinosis (JNCL), results from mutations in the CLN3 gene...
  48. Hersrud S, Kovács A, Pearce D. Antigen presenting cell abnormalities in the Cln3(-/-) mouse model of juvenile neuronal ceroid lipofuscinosis. Biochim Biophys Acta. 2016;1862:1324-36 pubmed publisher
    Mutations of the CLN3 gene lead to juvenile neuronal ceroid lipofuscinosis (JNCL), an autosomal recessive lysosomal storage disorder that causes progressive neurodegeneration in children and adolescents...
  49. Lee R, Johnson K, Lerner T. Isolation and chromosomal mapping of a mouse homolog of the Batten disease gene CLN3. Genomics. 1996;35:617-9 pubmed
    We describe the isolation and chromosomal mapping of a mouse homolog of the Batten disease gene, CLN3. Like its human counterpart, the mouse cDNA contains an open reading frame of 1314 bp encoding a predicted protein product of 438 amino ..
  50. Zhong N, Wisniewski K, Kaczmarski A, Ju W, Xu W, Xu W, et al. Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene. Hum Genet. 1998;102:57-62 pubmed
    ..A 1.02-kb genomic deletion in the Batten disease gene CLN3 has been determined to be a common mutation...
  51. Greene N, Bernard D, Taschner P, Lake B, de Vos N, Breuning M, et al. A murine model for juvenile NCL: gene targeting of mouse Cln3. Mol Genet Metab. 1999;66:309-13 pubmed
    JNCL is a neurodegenerative disease of childhood caused by mutations in the CLN3 gene. A mouse model for JNCL was created by disrupting exons 1-6 of Cln3, resulting in a null allele...
  52. Katz M, Shibuya H, Liu P, Kaur S, Gao C, Johnson G. A mouse gene knockout model for juvenile ceroid-lipofuscinosis (Batten disease). J Neurosci Res. 1999;57:551-6 pubmed
    ..forms of ceroid-lipofuscinosis, the most common of which is the juvenile type, also known as Batten disease and CLN3. To study the mechanisms that lead to pathology in CLN3 and to evaluate potential therapies, a mouse model has been ..
  53. Ding S, Tecedor L, Stein C, Davidson B. A knock-in reporter mouse model for Batten disease reveals predominant expression of Cln3 in visual, limbic and subcortical motor structures. Neurobiol Dis. 2011;41:237-48 pubmed publisher
    ..JNCL) or Batten disease is an autosomal recessive neurodegenerative disorder of children caused by mutation in CLN3. JNCL is characterized by progressive visual impairment, cognitive and motor deficits, seizures and premature death...
  54. Cho S, Gao N, Pearce D, Lehrman M, Hofmann S. Characterization of lipid-linked oligosaccharide accumulation in mouse models of Batten disease. Glycobiology. 2005;15:637-48 pubmed
    ..3% of the autofluorescent storage material by mass. The accumulation of LLOs is postulated to result from inhibition of late stages of lysosomal degradation of autophagosomes, which may be enriched in these metabolic precursors. ..
  55. Ratajczak E, Petcherski A, Ramos Moreno J, Ruonala M. FRET-assisted determination of CLN3 membrane topology. PLoS ONE. 2014;9:e102593 pubmed publisher
    Juvenile neuronal ceroid lipofuscinosis (JNCL) is caused by mutations in the CLN3 gene, which encodes for a putative lysosomal transmembrane protein with thus far undescribed structure and function...
  56. Koike M, Shibata M, Ezaki J, Peters C, Saftig P, Kominami E, et al. Differences in expression patterns of cathepsin C/dipeptidyl peptidase I in normal, pathological and aged mouse central nervous system. Eur J Neurosci. 2013;37:816-30 pubmed publisher
    ..These lines of evidence suggest that CC is involved in normal neuronal function in certain brain regions, and also participates in inflammatory processes accompanying pathogenesis in the CNS. ..
  57. Seigel G, Lotery A, Kummer A, Bernard D, Greene N, Turmaine M, et al. Retinal pathology and function in a Cln3 knockout mouse model of juvenile Neuronal Ceroid Lipofuscinosis (batten disease). Mol Cell Neurosci. 2002;19:515-27 pubmed
    ..Since retinal degeneration is an early consequence of Batten disease, we examined the eyes of Cln3 knockout mice (1-20 months of age), along with heterozygotes and appropriate controls, to determine whether or not ..
  58. Ouseph M, Kleinman M, Wang Q. Vision loss in juvenile neuronal ceroid lipofuscinosis (CLN3 disease). Ann N Y Acad Sci. 2016;1371:55-67 pubmed publisher
    Juvenile neuronal ceroid lipofuscinosis (JNCL; also known as CLN3 disease) is a devastating neurodegenerative lysosomal storage disorder and the most common form of Batten disease...
  59. Chattopadhyay S, Kingsley E, Serour A, Curran T, Brooks A, Pearce D. Altered gene expression in the eye of a mouse model for batten disease. Invest Ophthalmol Vis Sci. 2004;45:2893-905 pubmed
    ..neurodegenerative disorders of childhood, resulting from autosomal recessive inheritance of mutations in the CLN3 gene...
  60. Kriscenski Perry E, Applegate C, Serour A, Mhyre T, Leonardo C, Pearce D. Altered flurothyl seizure induction latency, phenotype, and subsequent mortality in a mouse model of juvenile neuronal ceroid lipofuscinosis/batten disease. Epilepsia. 2002;43:1137-40 pubmed
    ..Discovery of the Batten disease-related gene, CLN3, led to creation of a Cln3 protein-deficient mouse model (Cln3-/-), which recapitulates some of the histopathologic ..
  61. Sappington R, Pearce D, Calkins D. Optic nerve degeneration in a murine model of juvenile ceroid lipofuscinosis. Invest Ophthalmol Vis Sci. 2003;44:3725-31 pubmed
    To investigate optic nerve degeneration associated with CLN3 deficiency in a murine model of juvenile neuronal ceroid lipofuscinosis (Batten disease)...
  62. Chang J, Choi H, Kim H, Jo D, Jeon Y, Noh J, et al. Neuronal vulnerability of CLN3 deletion to calcium-induced cytotoxicity is mediated by calsenilin. Hum Mol Genet. 2007;16:317-26 pubmed
    ..Here, we identified CLN3 as a calsenilin-binding partner whose mutation or deletion is observed in Batten disease...
  63. Narayan S, Tan L, Bennett M. Intermediate levels of neuronal palmitoyl-protein Delta-9 desaturase in heterozygotes for murine Batten disease. Mol Genet Metab. 2008;93:89-91 pubmed
    ..reduced activity of a novel palmitoyl-protein Delta-9 desaturase in neuronal tissues from mice with the cln3 Juvenile Neuronal Ceroid-Lipofuscinosis (Batten disease) gene ablated...
  64. Grünewald B, Lange M, Werner C, O Leary A, Weishaupt A, Popp S, et al. Defective synaptic transmission causes disease signs in a mouse model of juvenile neuronal ceroid lipofuscinosis. elife. 2017;6: pubmed publisher
    Juvenile neuronal ceroid lipofuscinosis (JNCL or Batten disease) caused by mutations in the CLN3 gene is the most prevalent inherited neurodegenerative disease in childhood resulting in widespread central nervous system dysfunction ..