CLN8

Summary

Gene Symbol: CLN8
Description: CLN8, transmembrane ER and ERGIC protein
Alias: C8orf61, EPMR, protein CLN8, ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
Species: human

Top Publications

  1. ncbi 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
    Imke Tammen
    Centre for Advanced Technologies in Animal Genetics and Reproduction REPROGEN, Faculty of Veterinary Science, The University of Sydney, PMB3, Camden, NSW, Australia
    Biochim Biophys Acta 1762:898-905. 2006
  2. doi Local recurrence and surveillance after endoscopic resection of large colorectal tumors
    Kinichi Hotta
    Department of Gastroenterology, Saku Central Hospital, Saku, Nagano, Japan
    Dig Endosc 22:S63-8. 2010
  3. doi Functional and clinical results of transanal endoscopic microsurgery combined with endoscopic posterior mesorectum resection for the treatment of patients with t1 rectal cancer
    Piotr Walega
    3rd Department of General Surgery, Jagiellonian University School of Medicine, Pradnicka 35 37, 31 202, Krakow, Poland
    World J Surg 34:1604-8. 2010
  4. ncbi [Endoscopic therapy of adenomatous polyps and early-stage carcinomas of the colon and rectum]
    Ping Hong Zhou
    Department of General Surgery, Zhongshan Hospital, Fudan University, Shanghai 200032, China
    Zhonghua Wai Ke Za Zhi 46:1386-9. 2008
  5. ncbi A novel mutation of the CLN8 gene: is there a Mediterranean phenotype?
    Nathanel Zelnik
    Department of Pediatrics, Carmel Medical Center, and Rappaport Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel
    Pediatr Neurol 36:411-3. 2007
  6. ncbi The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum
    L Lonka
    Department of Molecular Genetics, Folkhalsan Institute of Genetics, Helsinki, Finland
    Hum Mol Genet 9:1691-7. 2000
  7. ncbi TRAM, LAG1 and CLN8: members of a novel family of lipid-sensing domains?
    Eitan Winter
    MRC Functional Genetics Unit, Department of Human Anatomy and Genetics, University of Oxford, South Parks Road, Oxford, UK OX1 3QX
    Trends Biochem Sci 27:381-3. 2002
  8. ncbi Cellular pathology and pathogenic aspects of neuronal ceroid lipofuscinoses
    E Kida
    Department of Pathological Neurobiology, New York State Institute for Basic Research in Developmental Disabilities, Staten Island 10314, USA
    Adv Genet 45:35-68. 2001
  9. ncbi Autosomal dominant adult neuronal ceroid lipofuscinosis: a novel form of NCL with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiency
    Peter C G Nijssen
    Department of Neurology, St Elisabeth Hospital, Tilburg, The Netherlands
    Brain Pathol 13:574-81. 2003
  10. ncbi The contribution of methotrexate exposure and host factors on transcriptional variance in human liver
    Glenn S Belinsky
    Center for Molecular Medicine, University of Connecticut Health Center, Farmington, CT 06030 3101, USA
    Toxicol Sci 97:582-94. 2007

Research Grants

  1. 12th International NCL Congress
    David A Pearce; Fiscal Year: 2009
  2. RETINAL CELL MODEL FOR BATTEN DISEASE
    David Pearce; Fiscal Year: 2002
  3. 11th International Congress on Neuronal Ceroid Lipofuscinosis
    David Pearce; Fiscal Year: 2007
  4. Serum Proteomics for Biomarker Discovery in Batten Disease
    David Pearce; Fiscal Year: 2008

Scientific Experts

Detail Information

Publications123 found, 100 shown here

  1. ncbi 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
    Imke Tammen
    Centre for Advanced Technologies in Animal Genetics and Reproduction REPROGEN, Faculty of Veterinary Science, The University of Sydney, PMB3, Camden, NSW, Australia
    Biochim Biophys Acta 1762:898-905. 2006
    ..have been suggested and seven different causative genes identified in humans (CLN1, CLN2, CLN3, CLN5, CLN6, CLN8 and CTSD)...
  2. doi Local recurrence and surveillance after endoscopic resection of large colorectal tumors
    Kinichi Hotta
    Department of Gastroenterology, Saku Central Hospital, Saku, Nagano, Japan
    Dig Endosc 22:S63-8. 2010
    Local recurrence rates after endoscopic piecemeal mucosal resection (EPMR) typically range from 10 to 23%...
  3. doi Functional and clinical results of transanal endoscopic microsurgery combined with endoscopic posterior mesorectum resection for the treatment of patients with t1 rectal cancer
    Piotr Walega
    3rd Department of General Surgery, Jagiellonian University School of Medicine, Pradnicka 35 37, 31 202, Krakow, Poland
    World J Surg 34:1604-8. 2010
    ..Endoscopic posterior mesorectal resection (EPMR) makes it possible to remove the relevant lymphatic drainage of the lower third of the rectum in the minimally ..
  4. ncbi [Endoscopic therapy of adenomatous polyps and early-stage carcinomas of the colon and rectum]
    Ping Hong Zhou
    Department of General Surgery, Zhongshan Hospital, Fudan University, Shanghai 200032, China
    Zhonghua Wai Ke Za Zhi 46:1386-9. 2008
    ..To assess the clinical efficacy of endoscopic treatment for colorectal adenomatous polyps and early-stage carcinomas...
  5. ncbi A novel mutation of the CLN8 gene: is there a Mediterranean phenotype?
    Nathanel Zelnik
    Department of Pediatrics, Carmel Medical Center, and Rappaport Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel
    Pediatr Neurol 36:411-3. 2007
    ..Israel of a patient with an early childhood onset of ceroid-lipofuscinosis who is homozygous to a mutation of the CLN8 gene...
  6. ncbi The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum
    L Lonka
    Department of Molecular Genetics, Folkhalsan Institute of Genetics, Helsinki, Finland
    Hum Mol Genet 9:1691-7. 2000
    ..Progressive epilepsy with mental retardation (EPMR) is a new member of the neuronal ceroid lipofuscinoses (NCLs). The CLN8 gene underlying EPMR was recently identified...
  7. ncbi TRAM, LAG1 and CLN8: members of a novel family of lipid-sensing domains?
    Eitan Winter
    MRC Functional Genetics Unit, Department of Human Anatomy and Genetics, University of Oxford, South Parks Road, Oxford, UK OX1 3QX
    Trends Biochem Sci 27:381-3. 2002
    ..The family includes the protein product of CLN8, a gene mutated in progressive epilepsy with mental retardation...
  8. ncbi Cellular pathology and pathogenic aspects of neuronal ceroid lipofuscinoses
    E Kida
    Department of Pathological Neurobiology, New York State Institute for Basic Research in Developmental Disabilities, Staten Island 10314, USA
    Adv Genet 45:35-68. 2001
    ..at present, genes associated with the disease process have been isolated and characterized (CLN1, CLN2, CLN3, CLN5, CLN8)...
  9. ncbi Autosomal dominant adult neuronal ceroid lipofuscinosis: a novel form of NCL with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiency
    Peter C G Nijssen
    Department of Neurology, St Elisabeth Hospital, Tilburg, The Netherlands
    Brain Pathol 13:574-81. 2003
    ..However, activities of these enzymes were within normal range in our patients. Thus we propose that a gene distinct from the cathepsin D and CLN1-CLN8 genes is responsible for this autosomal dominant form of ANCL.
  10. ncbi The contribution of methotrexate exposure and host factors on transcriptional variance in human liver
    Glenn S Belinsky
    Center for Molecular Medicine, University of Connecticut Health Center, Farmington, CT 06030 3101, USA
    Toxicol Sci 97:582-94. 2007
    ..Six of these genes were validated by qPCR. Two genes, CLN8 and ANKH that map to chromosomal locations previously associated with rheumatoid arthritis, were found to be ..
  11. pmc Fam57b (family with sequence similarity 57, member B), a novel peroxisome proliferator-activated receptor γ target gene that regulates adipogenesis through ceramide synthesis
    Yzumi Yamashita-Sugahara
    Division of Functional Genomics and Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, 1397 1 Yamane, Hidaka City, Saitama 350 1241, Japan
    J Biol Chem 288:4522-37. 2013
    ..Fam57b consists of three variants expressed from different promoters and contains a Tram-Lag1-CLN8 domain that is related to ceramide synthase...
  12. ncbi Rapid automated molecular replacement by evolutionary search
    C R Kissinger
    Agouron Pharmaceuticals, Inc, 3565 General Atomics Court, San Diego, CA 92121, USA
    Acta Crystallogr D Biol Crystallogr 55:484-91. 1999
    ..A program incorporating the method, EPMR, allows the rapid and highly automated solution of molecular-replacement problems involving single or multiple ..
  13. pmc Damage-based finite-element vertebroplasty simulations
    V Kosmopoulos
    Department of Mechanical Engineering, The College of New Jersey, 165 Armstrong Hall, 08628 0718, Ewing, New Jersey, USA
    Eur Spine J 13:617-25. 2004
    ..using a previously validated two-dimensional finite-element model coupled with an elasto-plastic modulus reduction (EPMR) scheme...
  14. doi A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function
    Chiara Vantaggiato
    Laboratory of Molecular Biology, E Medea Scientific Institute, Lecco, Italy
    Hum Mutat 30:1104-16. 2009
    ..neuronal ceroid lipofuscinoses (NCLs), with causative mutations found in CLN1, CLN2, CLN5, CLN6, CLN7 (MFSD8), and CLN8 genes...
  15. doi Predictive factors of local recurrence after endoscopic piecemeal mucosal resection
    Taku Sakamoto
    Endoscopy Division, National Cancer Center Hospital, 5 1 1 Tsukiji, Chuo Ku, Tokyo, Japan
    J Gastroenterol 47:635-40. 2012
    Endoscopic piecemeal mucosal resection (EPMR) is a widely accepted treatment for colorectal tumefaction. However, as it is associated with a significant recurrence rate, the technique remains controversial...
  16. doi Increased [³H]D-aspartate release and changes in glutamate receptor expression in the hippocampus of the mnd mouse
    Paolo Bigini
    Department of Biochemistry and Molecular Pharmacology, Mario Negri Institute for Pharmacological Research, Milano, Italy
    J Neurosci Res 90:1148-58. 2012
    ..mnd mouse, carrying a mutation in the Cln8 gene, has been proposed as a model of epilepsy with mental retardation (EPMR, ornorthern epilepsy). We recently showed neuronal hyperexcitability and seizure hypersusceptibility in mnd mice...
  17. ncbi SU-E-J-99: Automated Registration Method Based on Multi-Scale Edge Preserving Scale Space for PET-CT Scanner
    Dengwang Li
    College of Physics and Electronics, Shandong Normal University, China
    Med Phys 39:3675. 2012
    ..Methods: In this work, new multi-scale registration framework called EPMR was proposed based upon an edge preserving total variation L1 norm (TV-L1) scale space representation...
  18. doi Multiscale registration of medical images based on edge preserving scale space with application in image-guided radiation therapy
    Dengwang Li
    College of Physics and Electronics, Shandong Normal University, Ji Nan, People s Republic of China
    Phys Med Biol 57:5187-204. 2012
    ..In this work, a new multi-scale registration framework called edge preserving multiscale registration (EPMR) was proposed based upon an edge preserving total variation L1 norm (TV-L1) scale space representation...
  19. doi Ylpex5 mutation partially suppresses the defective hyphal growth of a Yarrowia lipolytica ceramide synthase mutant, Yllac1, by recovering lipid raft polarization and vacuole morphogenesis
    Jyotiranjan Bal
    Department of Microbiology and Molecular Biology, College of Bioscience and Biotechnology, Chungnam National University, Daejeon, Republic of Korea
    Fungal Genet Biol 50:1-10. 2013
    ..Domain swapping analysis revealed that the entire TRAM/Lag1/CLN8 (TLC) domain, not the Lag1 motif, is crucial for the function of YlLac1p...
  20. doi A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry
    Juyuan Guo
    Department of Veterinary Pathobiology, University of Missouri College of Veterinary Medicine, Columbia, MO, USA
    Mol Genet Metab 112:302-9. 2014
    ..Mutations in at least 14 genes underlie the various forms of NCL. One of these genes, CLN8, encodes an intrinsic membrane protein of unknown function that appears to be localized primarily to the ..
  21. doi Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan
    Yu Katata
    Department of Pediatrics, Tohoku University School of Medicine, Sendai, Miyagi, Japan
    Brain Dev 38:341-5. 2016
    ..Fourteen distinct NCL subtypes (CLN1-CLN14) are known, and they are caused by mutations in different genes. CLN8 was first identified in Finnish patients, and the phenotype was subsequently found in Turkish, Italian, and ..
  22. doi Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dog
    M Hirz
    Institute of Veterinary Pathology, Justus Liebig University Giessen, Germany Electronic address
    Mol Genet Metab . 2016
    ..from different litters of the same sire with a different dam harboring the same underlying novel mutation in the CLN8 gene...
  23. pmc CLN8 disease caused by large genomic deletions
    Clare Beesley
    Regional Genetics Laboratory Great Ormond Street Hospital London WC1N 3BH UK
    Mol Genet Genomic Med 5:85-91. 2017
    ..The presence of deletions can complicate genetic diagnosis of autosomal recessive disease...
  24. ncbi Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8
    W A Mitchell
    Department of Paediatrics and Child Health, University College London, UK
    Eur J Paediatr Neurol 5:21-7. 2001
    ..This telomeric region contained the recently identified CLN8 gene...
  25. ncbi Neuronal ceroid lipofuscinosis: late infantile or Jansky Bielschowsky type--re-revisited
    R B Wheeler
    Department of Paediatrics, Royal Free and University College Medical School, The Rayne Institute, London, UK
    Acta Neuropathol 102:485-8. 2001
    Among the now eight genetic types of neuronal ceroid-lipofuscinoses (NCL), CLN1 to CLN8, CLN2 is considered classic late-infantile NCL...
  26. ncbi The intracellular location and function of proteins of neuronal ceroid lipofuscinoses
    Junji Ezaki
    Department of Biochemistry, Juntendo University School of Medicine, 2 1 1 Hongo, Bunkyo ku, Tokyo 11 3 8421, Japan
    Brain Pathol 14:77-85. 2004
    ..NCLs are caused by at least 8 mutant genes (CLN1-CLN8), though CLN4 and CLN7 have not yet been identified...
  27. ncbi Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells
    Liina Lonka
    Folkhalsan Institute of Genetics, Department of Medical Genetics and Neuroscience Center, University of Helsinki, Finland
    J Neurosci Res 76:862-71. 2004
    ..Mutations in the CLN8 gene underlie Northern epilepsy (progressive epilepsy with mental retardation [EPMR], OMIM 600143) and a subset of Turkish variant late infantile NCL, but the pathogenetic mechanisms have remained ..
  28. ncbi Characterization of candidate genes for neuronal ceroid lipofuscinosis in dog
    C Drogemuller
    Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Bunteweg 17p, 30559 Hannover, Germany
    J Hered 96:735-8. 2005
    ..clinical criteria, which result from mutations in at least six different genes (TPP1, CLN2, PPT1, CLN5, CLN6, and CLN8)...
  29. ncbi Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin
    E Siintola
    Folkhalsan Institute of Genetics, Department of Medical Genetics and Neuroscience Center, Biomedicum Helsinki, University of Helsinki, Finland
    Clin Genet 68:167-73. 2005
    ..However, we recently showed that mutations in the CLN8 gene account for a subset of Turkish vLINCL...
  30. pmc Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses
    R Kohan
    Center for the Study of Inherited Metabolic Diseases CEMECO, Children s Hospital, Department of Medical Sciences, National University Cordoba, Argentina
    Curr Pharm Biotechnol 12:867-83. 2011
    ..Eight causal genes, CLN10/CTSD, CLN1/PPT1, CLN2/TPP1, CLN3, CLN5, CLN6, CLN7/MFSD8, CLN8, with more than 265 mutations and 38 polymorphisms (http://www.ucl.ac.uk/ncl) have been described...
  31. doi Galactolipid deficiency in the early pathogenesis of neuronal ceroid lipofuscinosis model Cln8mnd : implications to delayed myelination and oligodendrocyte maturation
    M Kuronen
    Folkhalsan Institute of Genetics, Helsinki, Finland
    Neuropathol Appl Neurobiol 38:471-86. 2012
    b>CLN8 deficiency underlies one of a group of devastating childhood neurodegenerative disorders, the neuronal ceroid lipofuscinoses. The function of the CLN8 protein is currently unknown, but a role in lipid metabolism has been proposed...
  32. doi Diagnosis of neuronal ceroid lipofuscinosis: mutation detection strategies
    Amanda L Getty
    University of Rochester School of Medicine and Dentistry, Center for Neural Development and Disease, Aab Institute of Biomedical Sciences, Box 645, Rochester, New York 14642, USA 1 585 506 1972
    Expert Opin Med Diagn 1:351-62. 2007
    ..adult-onset) and by the gene bearing mutations (CLN10/CTSD, CLN1/PPT1, CLN2/TPP1, CLN3, CLN5, CLN6, CLN7/MFSD8 and CLN8)...
  33. pmc Assessing the safety features of electronic patient medication record systems used in community pharmacies in England
    Oluwagbemileke Ojeleye
    Division of Social Research in Medicines and Health, School of Pharmacy, University of Nottingham, Nottingham, UK
    Br J Clin Pharmacol 78:401-9. 2014
    To evaluate the ability of electronic patient medication record (ePMR) systems used in community pharmacies in England to detect and alert users about clinical hazards, errors and other safety problems.
  34. pmc Sensory rewiring in an echolocator: genome-wide modification of retinogenic and auditory genes in the bat Myotis davidii
    Nicholas J Hudson
    Computational and Systems Biology, CSIRO Agriculture Flagship, Queensland Bioscience Precinct, Brisbane, Queensland, Australia
    G3 (Bethesda) 4:1825-35. 2014
    ..This CUB ranking systematically enriched for vision-related (CLN8, RD3, IKZF1, LAMC3, CRX, SOX8, VAX2, HPS1, RHO, PRPH2, and SOX9) and hearing-related (TPRN, TMIE, SLC52A3, OTOF, ..
  35. doi Cell biology of the NCL proteins: What they do and don't do
    Jaime Carcel-Trullols
    Sanford Children s Health Research Center, Sanford Research, Sioux Falls, SD, 57104, USA
    Biochim Biophys Acta 1852:2242-55. 2015
    ..in lysosomes (CLN1, CLN2, CLN3, CLN5, CLN7, CLN10, CLN12 and CLN13) but also in the Endoplasmic Reticulum (CLN6 and CLN8), or in the cytosol associated to vesicular membranes (CLN4 and CLN14)...
  36. pmc Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population
    Emiko Inoue
    Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
    PLoS ONE 10:e0144624. 2015
    ..a follow-up study and identified ceroid-lipofuscinosis neuronal 8 (epilepsy, progressive with mental retardation) (CLN8) as a potential genetic risk factor for ASD...
  37. ncbi Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population
    Carla Teixeira
    Unidade de Neurobiologia Genética, Instituto de Biologia Molecular e Celular, Universidade do Porto, Rua do Campo Alegre 823, Portugal
    J Neurol 250:661-7. 2003
    ..3 % of NCL Portuguese patients, respectively. In 42.3 % of patients affected by the vLINCL form, CLN3, CLN5 and CLN8 gene defects were excluded by direct sequencing of cDNA...
  38. ncbi Endoscopic piecemeal mucosal resection of large colorectal tumors
    Keiichiro Kume
    Third Department of Internal Medicine, University of Occupational and Environmental Health Japan, School of Medicine, Kitakyusyu, Japan
    Hepatogastroenterology 52:429-32. 2005
    ..resection of large and sessile tumors is technically difficult, endoscopic en bloc piecemeal mucosal resection (EPMR) is usually chosen for resection of such tumors...
  39. pmc The neuronal ceroid lipofuscinosis Cln8 gene expression is developmentally regulated in mouse brain and up-regulated in the hippocampal kindling model of epilepsy
    Liina Lonka
    Neuroscience Center, University of Helsinki, Finland
    BMC Neurosci 6:27. 2005
    ..Mutations in the CLN8 gene, encoding an endoplasmic reticulum (ER) transmembrane protein of unknown function, underlie NCL phenotypes in ..
  40. pmc Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation
    Clarence K Zhang
    Keck Biotechnology Laboratory Biostatistics Resource, Yale University School of Medicine, New Haven, CT 06520, USA
    Am J Hematol 87:377-83. 2012
    ..Several SNPs in linkage disequilibrium within the CLN8 gene locus were associated with the GD1 severity: SNP rs11986414 was associated with GD1 severity at P value 1...
  41. doi Phenotypic heterogeneity in consanguineous patients with a common CLN8 mutation
    Muhammad Mahajnah
    Child Neurology and Development Center, Hilel Yaffe Medical Center Hadera, Rappaport Faculty of Medicine, Technion, Haifa, Israel
    Pediatr Neurol 47:303-5. 2012
    ..variant, which, in addition to the classic CLN2, was reported in children with CLN5, CLN6, CLN7/MFSD8, and CLN8 genes...
  42. doi Characterization of neuronal ceroid-lipofuscinosis in 3 cats
    M D Chalkley
    Department of Veterinary Population Medicine, College of Veterinary Medicine, University of Minnesota, St Paul, MN, USA
    Vet Pathol 51:796-804. 2014
    ..from which DNA was available did not reveal any plausible disease-causing mutations of the CLN1 (PPT1), CLN3, CLN5, CLN8, and CLN10 (CTSD) genes...
  43. pmc Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis
    Liliana Catherine Patiño
    Unidad de Genetica, Grupo GENIUROS, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogota, Colombia
    PLoS ONE 9:e109576. 2014
    ..The variant late-infantile form of the disease has been linked to CLN5, CLN6, CLN7 (MFSD8) and CLN8 mutations...
  44. pmc Genetics of the neuronal ceroid lipofuscinoses (Batten disease)
    Sara E Mole
    MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London, WC1E 6BT, UK UCL Institute of Child Health and Department of Genetics, Evolution and Environment, University College London, London WC1E 6BT, UK Electronic address
    Biochim Biophys Acta 1852:2237-41. 2015
    ..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...
  45. ncbi Chromoendoscopy and high-magnification colonoscopy in early detection of colorectal cancer
    Bo Jiang
    Institute for Digestive Diseases of PLA, Nanfang Hospital, First Military Medical University, Guangzhou 510515, China
    Di Yi Jun Yi Da Xue Xue Bao 22:385-7. 2002
    ..treatment of these lesions by way of endoscopic mucosal resection (EMR) or endoscopic piecemeal mucosal resection (EPMR)...
  46. ncbi Early-postoperative magnetic resonance imaging in glial tumors: prediction of tumor regrowth and recurrence
    Gazanfer Ekinci
    Marmara University Medical Faculty, Department of Radiology, Istanbul, Turkey
    Eur J Radiol 45:99-107. 2003
    This study investigated the value of early-postoperative magnetic resonance (EPMR) imaging in the detection of residual glial tumor and investigated the role of EPMR for the prediction of tumor regrowth and recurrence.
  47. ncbi Effective electron-density map improvement and structure validation on a Linux multi-CPU web cluster: The TB Structural Genomics Consortium Bias Removal Web Service
    Vinod Reddy
    Biochemistry and Biophysics Department, Texas A and M University, 2128 TAMU, College Station, TX 77843 2128, USA
    Acta Crystallogr D Biol Crystallogr 59:2200-10. 2003
    ..The service is based on an efficient bias-removal protocol, Shake&wARP, and implemented using EPMR and the CCP4 suite of programs, combined with various shell scripts and Fortran90 routines...
  48. ncbi Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean
    Natalia Cannelli
    Molecular Medicine IRCCS Children Hospital Bambino Gesù Piazza S Onofrio, 4 00165, Rome, Italy
    Neurogenetics 7:111-7. 2006
    ..The CLN8 form was first described in Finland, where all the patients are homozygous for a p.Arg24Gly mutation in CLN8...
  49. ncbi Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis
    Jonathan D Cooper
    Pediatric Storage Disorders Laboratory, Department of Neuroscience, and Centre for the Cellular Basis of Behaviour, MRC Social Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, De Crespigny Park, King s College London, London, UK
    Biochim Biophys Acta 1762:873-89. 2006
    ..mutants is available representing all the cloned NCL gene disorders (Cathepsin D, CLN1, CLN2, CLN3, CLN5, CLN6, CLN8). These NCL mice all have progressive neurodegenerative phenotypes that closely resemble the pathology of human NCL...
  50. pmc Seizure susceptibility, phenotype, and resultant growth delay in the nclf and mnd mouse models of neuronal ceroid lipofuscinoses
    Elizabeth Kriscenski-Perry
    Center for Neural Development and Disease, University of Rochester School of Medicine and Dentistry, Rochester, NY, USA
    J Child Neurol 28:1137-41. 2013
    ..2 mouse models of neuronal ceroid lipofuscinoses: the nclf (Cln6 mutant) variant late-infantile model and the mnd (Cln8 mutant) Northern epilepsy model...
  51. ncbi Analysis of perinatal deaths and ascertaining perinatal mortality trend in a hospital
    S R Manandhar
    Department of Pediatrics, Kathnmandu Medical College Teaching Hospital, Nepal drsunilraaj g mail com
    J Nepal Health Res Counc 9:150-3. 2011
    ..The aim of the study is to analyse perinatal deaths and ascertain perinatal mortality trend of Kathmandu Medical College Teaching hospital in the last 8 year period...
  52. doi Identifying protein partners of CLN8, an ER-resident protein involved in neuronal ceroid lipofuscinosis
    Rosa Passantino
    CNR Institute of Biomedicine and Molecular Immunology, 90146 Palermo, Italy
    Biochim Biophys Acta 1833:529-40. 2013
    ..Two distinct clinical phenotypes, the progressive epilepsy with mental retardation (EPMR) and a late-infantile variant of NCLs (CLN8-vLINCL) are associated with mutations in the CLN8 gene that encodes a ..
  53. doi CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches
    Saria El Haddad
    Department of Pediatric, American University of Beirut, Beirut, Lebanon
    Electrophoresis 33:3798-809. 2012
    ..The CLN8 protein (CLN8p) corrects growth and apoptosis in CLN5(-/-) cells...
  54. doi Early MRI changes in glioblastoma in the period between surgery and adjuvant therapy
    Paolo Farace
    Anatomy and Histology Section, Department of Morphological and Biomedical Sciences, University of Verona, Via Le Grazie 8, 37134 Verona, VR, Italy
    J Neurooncol 111:177-85. 2013
    ..thirty-seven patients with newly diagnosed glioblastoma were analyzed by early post-operative magnetic resonance (EPMR) imaging within three days of surgery and by pre-adjuvant magnetic resonance (PAMR) examination before adjuvant ..
  55. pmc The evidence for the effectiveness of safety alerts in electronic patient medication record systems at the point of pharmacy order entry: a systematic review
    Oluwagbemileke Ojeleye
    Division of Social Research in Medicines and Health, University of Nottingham, Nottingham, UK
    BMC Med Inform Decis Mak 13:69. 2013
    Electronic Patient Medication Record (ePMR) systems have important safety features embedded to alert users about potential clinical hazards and errors...
  56. ncbi Anti-inflammatory and anticancer activities of ethanol extract of pendulous monkshood root in vitro
    Xian Ju Huang
    College of Pharmacy, South Central University for Nationalities, Wuhan, China
    Asian Pac J Cancer Prev 14:3569-73. 2013
    ..In this study, the anti-inflammatory and anticancer activities and the mechanism of crude ethanol extract of pendulous monkshood root (EPMR) were evaluated and investigated in vitro.
  57. ncbi Safety features and alerts in electronic patient medication record systems used in community pharmacy in England: an exploratory study
    Oluwagbemileke Ojeleye
    Division of Social Research in Medicines and Health, School of Pharmacy, University of Nottingham, Nottingham NG7 2RD, UK
    Stud Health Technol Inform 192:1142. 2013
    Safety features embedded in electronic Patient Medication Record (ePMR) systems alert users about clinical hazards and errors in prescribed medicines during order entry...
  58. doi Clinical outcomes of endoscopic submucosal dissection and endoscopic mucosal resection for laterally spreading tumors larger than 20 mm
    Motomi Terasaki
    Department of Gastroenterology and Metabolism, Hiroshima University Graduate School of Biomedical Sciences, Hiroshima, Japan
    J Gastroenterol Hepatol 27:734-40. 2012
    ..Endoscopic piecemeal mucosal resection (EPMR) is sometimes required...
  59. pmc Acyl chain specificity of ceramide synthases is determined within a region of 150 residues in the Tram-Lag-CLN8 (TLC) domain
    Rotem Tidhar
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    J Biol Chem 287:3197-206. 2012
    ....
  60. doi Mouse models of neuronal ceroid lipofuscinoses: useful pre-clinical tools to delineate disease pathophysiology and validate therapeutics
    John J Shacka
    Neuropathology Division, Department of Pathology, University of Alabama at Birmingham, Birmingham, AL 35294, USA
    Brain Res Bull 88:43-57. 2012
    ..form); tripeptidyl peptidase 1 (TPP1) for classic late infantile (CLN2 form); variant late infantile-CLN5, CLN6 or CLN8 for variant late infantile forms; and CLN3 for juvenile (CLN3 form)...
  61. ncbi [Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile]
    María del Socorro Pérez-Poyato
    Servicio de Neurología Pediátrica, Hospital Sant Joan de Deu, Esplugues de Llobregat, Barcelona, Espana
    Rev Neurol 54:544-50. 2012
    ..The variant late infantile forms (CLN5, CLN6, CLN7 and CLN8) are characterized by a wide variability of the clinical phenotypes and the most patients are originated from ..
  62. doi Selective spatiotemporal patterns of glial activation and neuron loss in the sensory thalamocortical pathways of neuronal ceroid lipofuscinosis 8 mice
    Mervi Kuronen
    Folkhalsan Institute of Genetics, Haartmaninkatu 8, Helsinki, Finland
    Neurobiol Dis 47:444-57. 2012
    ..Here, we have characterized the timing and regional-specificity of the pathological events of CLN8 disease utilizing the Cln8 deficient mouse model, Cln8(mnd)...
  63. ncbi Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p
    S Ranta
    Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
    Genome Res 6:351-60. 1996
    Progressive epilepsy with mental retardation (EPMR) is an autosomal recessive disorder discovered recently from an isolated region in Finland...
  64. ncbi High-resolution mapping and transcript identification at the progressive epilepsy with mental retardation locus on chromosome 8p
    S Ranta
    Department of Psychiatry, Columbia Genome Center, College of Physicians and Surgeons at Columbia University and New York State Psychiatric Institute, New York 10032, USA
    Genome Res 7:887-96. 1997
    Progressive epilepsy with mental retardation (EPMR) is an autosomal recessive central nervous system disorder characterized by childhood onset epilepsy and subsequent mental retardation...
  65. ncbi The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8
    S Ranta
    Folkhalsan Institute of Genetics, Helsinki, Finland
    Nat Genet 23:233-6. 1999
    ..Progressive epilepsy with mental retardation (EPMR, MIM 600143) was recently recognized as a new NCL subtype (CLN8)...
  66. ncbi Batten's disease: clues to neuronal protein catabolism in lysosomes
    G Dawson
    Department of Pediatrics, University of Chicago, Chicago, Illinois, USA
    J Neurosci Res 60:133-40. 2000
    ..These include palmitoyl:protein thioesterase 1 (CLN1), tripeptidylpeptidase 1 (CLN2), cathepsin D (CLN8), and two membrane proteins of unknown function (CLN3 and CLN5)...
  67. ncbi Positional cloning and characterisation of the human DLGAP2 gene and its exclusion in progressive epilepsy with mental retardation
    S Ranta
    Folkhalsan Institute of Genetics, and Department of Medical Genetics, University of Helsinki, Finland
    Eur J Hum Genet 8:381-4. 2000
    In search of the gene for progressive epilepsy with mental retardation (EPMR) we identified DLGAP2, the human homolog of the gene encoding the rat PSD-95/SAP90-associated protein-2 (Dlgap2)...
  68. ncbi Neuronal ceroid lipofuscinoses and possible pathogenic mechanism
    N Zhong
    New York State Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, New York 10314, USA
    Mol Genet Metab 71:195-206. 2000
    ..variant LINCL (pLINCL), Turkish variant LINCL (tLINCL), and progressive epilepsy with mental retardation (EPMR)...
  69. ncbi The molecular genetic basis of the neuronal ceroid lipofuscinoses
    R M Gardiner
    Department of Paediatrics, Royal Free and University College Medical School, University College London, The Rayne Institute, UK
    Neurol Sci 21:S15-9. 2000
    ..The remaining three, CLN3, CLN5 and CLN8 encode putative membrane proteins of unknown function...
  70. ncbi Neuronal ceroid lipofuscinoses: classification and diagnosis
    K E Wisniewski
    Department of Pathological Neurobiology, New York State Institute for Basic Research in Developmental Disabilities, Staten Island 10314, USA
    Adv Genet 45:1-34. 2001
    ..Currently, five genes associated with various childhood forms of NCLs, designated CLN1, CLN2, CLN3, CLN5, and CLN8, have been isolated and characterized...
  71. ncbi Biochemistry of neuronal ceroid lipofuscinoses
    M A Junaid
    Department of Developmental Biochemistry, New York State Institute for Basic Research in Developmental Disabilities, Staten Island 10314, USA
    Adv Genet 45:93-106. 2001
    ..Genomic and proteomic approaches have presently identified eight different forms of NCL (namely, CLN1 through CLN8) based on mutations in specific genes...
  72. ncbi Pheno/genotypic correlations of neuronal ceroid lipofuscinoses
    K E Wisniewski
    New York State Institute for Basic Research in Developmental Disabilities, Staten Island, 10314, USA
    Neurology 57:576-81. 2001
    ..These eight NCL forms resulted from 100 different mutations on genes CLN1to CLN8 causing different phenotypes (http://www.ucl.ac.uk/ncl)...
  73. ncbi Clinical and neuroradiological diagnostic aspects of neuronal ceroid lipofuscinoses disorders
    P Santavuori
    Department of Neurology, Hospital for Children and Adolescents, University of Helsinki, PL 280, 00029 HUS, Helsinki, Finland
    Eur J Paediatr Neurol 5:157-61. 2001
    ..The combination of ophthalmological deficits and vacuolated lymphocytes is highly characteristic of the juvenile type (CLN3). A new NCL type, Northern epilepsy (CLN8), is also briefly reviewed.
  74. ncbi Northern epilepsy syndrome (NES, CLN8)--MRI and electrophysiological studies
    L Lauronen
    BioMag Laboratory, Medical Engineering Centre, Department of Radiology, Helsinki University Central Hospital, Helsinki, Finland
    Eur J Paediatr Neurol 5:167-73. 2001
    Northern epilepsy syndrome (NES, EPMR, progressive epilepsy with mental retardation, CLN8), an inherited childhood-onset epilepsy with mental retardation, has been recently characterized to belong to the family of neuronal ceroid ..
  75. ncbi Hippocampal lesions in the neuronal ceroid lipofuscinoses
    M Haltia
    Department of Pathology, University of Helsinki, Helsinki University Central Hospital, Finland
    Eur J Paediatr Neurol 5:209-11. 2001
    ..variant late infantile (CLN5), and juvenile (CLN3) neuronal ceroid-lipofuscinosis as well as Northern epilepsy (CLN8), using a battery of histological and immunocytochemical staining methods...
  76. ncbi New mutations in the neuronal ceroid lipofuscinosis genes
    S E Mole
    Department of Paediatrics and Child Health, University College London, Rayne Institute, 5 University Street, London WC1E 6JJ, UK
    Eur J Paediatr Neurol 5:7-10. 2001
    ..Thirty-eight mutations are recorded for CLN1/PPT; 40 for CLN2/TTP-1, 31 for CLN3, four for CLN5, one for CLN8. Two mutations have been described in animal genes (cln8/mnd, CTSD)...
  77. ncbi Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)
    J M Holopainen
    Helsinki Biomembrane and Biophysics Group, Institute of Biomedicine, Biomedicum Helsinki, Finland
    Eur J Biochem 268:5851-6. 2001
    ..Intracellular pH was normal in all NCLs. Elevated lysosomal pH was detected in all NCL forms except CLN2 and CLN8. Elevated pH most probably disturbs the catalytic activity of lysosomes and is one important factor in explaining ..
  78. ncbi The development of behavioral abnormalities in the motor neuron degeneration (mnd) mouse
    Valerie J Bolivar
    Wadsworth Center, New York State Department of Health, David Axelrod Institute, 120 New Scotland Avenue, P O Box 22002, Albany, NY 12201, USA
    Brain Res 937:74-82. 2002
    ..mnd) mouse, which has widespread abnormal accumulating lipoprotein and neuronal degeneration, has a mutation in CLN8, the gene for human progressive epilepsy with mental retardation (EPMR)...
  79. ncbi The neuronal ceroid lipofuscinoses: mutations in different proteins result in similar disease
    Jill M Weimer
    Center for Aging and Developmental Biology, University of Rochester School of Medicine and Dentistry, New York 14642, USA
    Neuromolecular Med 1:111-24. 2002
    ..which encodes PPT1, a protein thiolesterase; CLN2, which encodes TPP1, a serine protease; and CLN3, CLN5, CLN6, and CLN8, which encode novel transmembrane proteins...
  80. ncbi Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis
    Julie D Sharp
    Department of Paediatrics and Child Health, Royal Free and University College Medical School, University College London, London, UK
    Hum Mutat 22:35-42. 2003
    ..Unlike NCLs caused by mutations in CLN1, CLN3, CLN5, and CLN8, there is no major founder mutation in CLN6...
  81. ncbi Structures of thymus and activation-regulated chemokine (TARC)
    Oluwatoyin A Asojo
    Macromolecular Crystallography Laboratory, National Cancer Institute at Frederick, Frederick, MD 21702, USA
    Acta Crystallogr D Biol Crystallogr 59:1165-73. 2003
    ..and was obtained by combining the results from four different molecular-replacement programs (AMoRe, CNS, BEAST and EPMR), with subsequent extension of the gathered information...
  82. ncbi Human homologues of LAG1 reconstitute Acyl-CoA-dependent ceramide synthesis in yeast
    Isabelle Guillas
    Department of Medicine, University of Fribourg, CH 1700 Fribourg, Switzerland
    J Biol Chem 278:37083-91. 2003
    ..b>CLN8, another human LAG1 homologue implicated in ceroid lipofuscinosis, could not restore viability to lag1delta ..
  83. ncbi Structure of Thermus thermophilus HB8 H-protein of the glycine-cleavage system, resolved by a six-dimensional molecular-replacement method
    Tadashi Nakai
    RIKEN Harima Institute SPring 8, 1 1 1 Kouto, Mikazuki, Sayo gun, Hyogo 679 5148, Japan
    Acta Crystallogr D Biol Crystallogr 59:1610-8. 2003
    ..a closely packed unit cell, this structure was solved by six-dimensional molecular replacement with the program EPMR using the pea H-protein structure as a search model and was refined to an R factor of 0...
  84. pmc Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10
    Kristien Verhoeven
    Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology, Antwerp, Belgium
    Am J Hum Genet 73:926-32. 2003
    ..Expression analysis of ARHGEF10, by use of its mouse orthologue Gef10, showed that it is highly expressed in the peripheral nervous system. Our data support a role for ARHGEF10 in developmental myelination of peripheral nerves...
  85. ncbi Current state of clinical and morphological features in human NCL
    Hans H Goebel
    Department of Neuropathology, Johannes Gutenberg University, Mainz, Germany
    Brain Pathol 14:61-9. 2004
    ..These eight NCL forms resulted from 151 different mutations in genes CLN1 to CLN8 causing different phenotypes (http://www.ucl.ac.uk/ncl)...
  86. ncbi The genetic spectrum of human neuronal ceroid-lipofuscinoses
    Sara E Mole
    Department of Paediatrics and Child Health, Royal Free and University College Medical School, University College, London, United Kingdom
    Brain Pathol 14:70-6. 2004
    ..Six genes have been identified that cause human NCL (CLN1, CLN2, CLN3, CLN5, CLN6, CLN8), and approximately 150 mutations have been described...
  87. ncbi Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy
    Susanna Ranta
    Folkhälsan Institute of Genetics and Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Finland
    Hum Mutat 23:300-5. 2004
    ..form of NCL so far described only in Finland, where all patients are homozygous for a missense mutation in the CLN8 gene...
  88. ncbi CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein
    Sara E Mole
    Department of Paediatrics and Child Health, Royal Free and University College Medical School, University College London, London WC1E 6JJ, UK
    Exp Cell Res 298:399-406. 2004
    ..CLN2/TTPI, CLN3 and CLN5), and one type is caused by mutations in a protein that recycles between the ER and ERGIC (CLN8). The CLN6 gene underlying a variant of late infantile NCL (vLINCL) was recently identified...
  89. ncbi A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging
    Outi Kopra
    Department of Medical Genetics and Molecular Medicine, University of Helsinki and National Public Health Institute, Biomedicum Helsinki PL, Finland
    Hum Mol Genet 13:2893-906. 2004
    ..NCL) comprise the most common group of childhood encephalopathies caused by mutations in eight genetic loci, CLN1-CLN8. Here, we have developed a novel mouse model for the human vLINCL (CLN5) by targeted deletion of exon 3 of the ..
  90. ncbi Progression of early postnatal retinal pathology in a mouse model of neuronal ceroid lipofuscinosis
    G M Seigel
    Department of Ophthalmology, Ross Eye Institute, Physiology and Biophysics, University at Buffalo SUNY, Buffalo, NY 14214, USA
    Eye (Lond) 19:1306-12. 2005
    ..CNS target affected in NCL and could serve as a means to assess early disease progression as well as potential therapeutic responses, we followed the course of postnatal retinal pathology in tissues from the CLN8 (mnd) mouse model of NCL.
  91. ncbi Hippocampal pathology in the human neuronal ceroid-lipofuscinoses: distinct patterns of storage deposition, neurodegeneration and glial activation
    Jaana Tyynelä
    Institute of Biomedicine Biochemistry and Neuroscience Research Program, University of Helsinki, Finland
    Brain Pathol 14:349-57. 2004
    ..NCLs) are recessively inherited lysosomal storage diseases, currently classified into 8 forms (CLN1-CLN8)...
  92. ncbi A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis
    Martin L Katz
    Mason Eye Institute, University of Missouri School of Medicine, Columbia, MO, USA
    Biochem Biophys Res Commun 327:541-7. 2005
    ..Megablast searches of the first build of the canine genome for potential causative genes located the CLN8 gene near the q telomere of canine chromosome 37, close to a marker previously linked to English Setter NCL...
  93. ncbi Characterization of lipid-linked oligosaccharide accumulation in mouse models of Batten disease
    Steve K Cho
    Department of Internal Medicine and Hamon Center for Therapeutic Oncology Research, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA
    Glycobiology 15:637-48. 2005
    ..and found striking lipid-linked oligosaccharide (LLO) accumulation in NCL mouse models (especially CLN1, CLN6, and CLN8 knockout or mutant mice) but not in several other lysosomal storage disorders affecting the brain...
  94. ncbi Behavioral assessment in mouse models of neuronal ceroid lipofuscinosis using a light-cued T-maze
    Kristy D Wendt
    University of Missouri School of Medicine, Mason Eye Institute, One Hospital Drive, Columbia, MO 65212, USA
    Behav Brain Res 161:175-82. 2005
    ..include the well-characterized motor neuron degeneration (mnd/mnd) model for one variant of late infantile NCL (CLN8), and the more recently generated models for the infantile (CLN1) and juvenile (CLN3) forms of NCL...
  95. ncbi Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses
    Sara E Mole
    MRC Laboratory for Molecular Cell Biology and Department of Paediatrics and Child Health, University College London, Gower Street, London, WC1E 6BT, UK
    Neurogenetics 6:107-26. 2005
    ..the last decade, mutations that cause NCL have been found in six human genes (CLN1, CLN2, CLN3, CLN5, CLN6 and CLN8)...
  96. ncbi SGXPro: a parallel workflow engine enabling optimization of program performance and automation of structure determination
    Zheng Qing Fu
    Southeast Collaboratory for Structural Genomics, Department of Biochemistry and Molecular Biology, The University of Georgia, Athens, GA 30602, USA
    Acta Crystallogr D Biol Crystallogr 61:951-9. 2005
    ..current SGXPro program palette includes 3DSCALE, SHELXD, ISAS, SOLVE/RESOLVE, DM, SOLOMON, DMMULTI, BLAST, AMoRe, EPMR, XTALVIEW, ARP/wARP and MAID...
  97. ncbi Mass spectrometric analysis reveals changes in phospholipid, neutral sphingolipid and sulfatide molecular species in progressive epilepsy with mental retardation, EPMR, brain: a case study
    Martin Hermansson
    Institute of Biomedicine, Department of Biochemistry, University of Helsinki, Helsinki, Finland
    J Neurochem 95:609-17. 2005
    ..The CLN8 gene that underlies EPMR encodes a novel transmembrane protein that localizes to the endoplasmic reticulum (ER) and ..
  98. ncbi The CLN9 protein, a regulator of dihydroceramide synthase
    Angela Schulz
    Duke University Medical Center, Department of Pediatrics, Durham, North Carolina 27710, USA
    J Biol Chem 281:2784-94. 2006
    ..Transfection with CLN8 but not other NCL genes corrected growth and apoptosis in CLN9-deficient cells, although the entire CLN8 sequence ..
  99. ncbi Neuronal ceroid lipofuscinosis in Devon cattle is caused by a single base duplication (c.662dupG) in the bovine CLN5 gene
    Peter J Houweling
    Centre for Advanced Technologies in Animal Genetics and Reproduction REPROGEN, Faculty of Veterinary Science, The University of Sydney, PMB3, Camden NSW, Australia
    Biochim Biophys Acta 1762:890-7. 2006
    ..The associated genes for six different human forms have been identified (CLN1, CLN2, CLN3, CLN5, CLN6 and CLN8), and three other human forms suggested (CLNs 4, 7 and 9)...
  100. ncbi Neuronal ceroid lipofuscinosis: a common pathway?
    Dixie Ann Persaud-Sawin
    Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Pediatr Res 61:146-52. 2007
    ..The membrane-bound proteins CLN3, CLN6, and CLN8 complement each other, as do CLN1 and CLN2 proteins, with respect to growth and apoptosis...

Research Grants4

  1. 12th International NCL Congress
    David A Pearce; Fiscal Year: 2009
    ..Four NCL types, CLN3, CLN5, CLN6 and CLN8, respectively, are caused by mutations in genes encoding four new transmembrane proteins, the physiological ..
  2. RETINAL CELL MODEL FOR BATTEN DISEASE
    David Pearce; Fiscal Year: 2002
    ....
  3. 11th International Congress on Neuronal Ceroid Lipofuscinosis
    David Pearce; Fiscal Year: 2007
    ..Four NCL types, CLN3, CLN5, CLN6 and CLN8, respectively, are caused by mutations in genes encoding four new transmembrane proteins, the physiological ..
  4. Serum Proteomics for Biomarker Discovery in Batten Disease
    David Pearce; Fiscal Year: 2008
    ..Completion of the proposed studies would likely prove valuable in identification of markers of more complex neurodegenerative diseases [unreadable] [unreadable] [unreadable] [unreadable]..