Genomes and Genes
Gene Symbol: CLN8
Description: CLN8, transmembrane ER and ERGIC protein
Alias: C8orf61, EPMR, protein CLN8, ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
Publications123 found, 100 shown here
- 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 mRNAImke 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)...
- Local recurrence and surveillance after endoscopic resection of large colorectal tumorsKinichi Hotta
Department of Gastroenterology, Saku Central Hospital, Saku, Nagano, Japan
Dig Endosc 22:S63-8. 2010Local recurrence rates after endoscopic piecemeal mucosal resection (EPMR) typically range from 10 to 23%...
- Functional and clinical results of transanal endoscopic microsurgery combined with endoscopic posterior mesorectum resection for the treatment of patients with t1 rectal cancerPiotr 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 ..
- [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...
- 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...
- The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulumL 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...
- 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...
- Cellular pathology and pathogenic aspects of neuronal ceroid lipofuscinosesE 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)...
- Autosomal dominant adult neuronal ceroid lipofuscinosis: a novel form of NCL with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiencyPeter 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.
- The contribution of methotrexate exposure and host factors on transcriptional variance in human liverGlenn 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 ..
- Fam57b (family with sequence similarity 57, member B), a novel peroxisome proliferator-activated receptor γ target gene that regulates adipogenesis through ceramide synthesisYzumi 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...
- Rapid automated molecular replacement by evolutionary searchC 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 ..
- Damage-based finite-element vertebroplasty simulationsV 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...
- A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological functionChiara 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...
- Predictive factors of local recurrence after endoscopic piecemeal mucosal resectionTaku Sakamoto
Endoscopy Division, National Cancer Center Hospital, 5 1 1 Tsukiji, Chuo Ku, Tokyo, Japan
J Gastroenterol 47:635-40. 2012Endoscopic 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...
- Increased [³H]D-aspartate release and changes in glutamate receptor expression in the hippocampus of the mnd mousePaolo 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...
- SU-E-J-99: Automated Registration Method Based on Multi-Scale Edge Preserving Scale Space for PET-CT ScannerDengwang 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...
- Multiscale registration of medical images based on edge preserving scale space with application in image-guided radiation therapyDengwang 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...
- Ylpex5 mutation partially suppresses the defective hyphal growth of a Yarrowia lipolytica ceramide synthase mutant, Yllac1, by recovering lipid raft polarization and vacuole morphogenesisJyotiranjan 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...
- A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestryJuyuan 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 ..
- Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in JapanYu 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 ..
- Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dogM 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...
- CLN8 disease caused by large genomic deletionsClare 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...
- Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8W 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...
- Neuronal ceroid lipofuscinosis: late infantile or Jansky Bielschowsky type--re-revisitedR B Wheeler
Department of Paediatrics, Royal Free and University College Medical School, The Rayne Institute, London, UK
Acta Neuropathol 102:485-8. 2001Among the now eight genetic types of neuronal ceroid-lipofuscinoses (NCL), CLN1 to CLN8, CLN2 is considered classic late-infantile NCL...
- The intracellular location and function of proteins of neuronal ceroid lipofuscinosesJunji 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...
- Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cellsLiina 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 ..
- Characterization of candidate genes for neuronal ceroid lipofuscinosis in dogC 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)...
- Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish originE 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...
- Therapeutic approaches to the challenge of neuronal ceroid lipofuscinosesR 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...
- Galactolipid deficiency in the early pathogenesis of neuronal ceroid lipofuscinosis model Cln8mnd : implications to delayed myelination and oligodendrocyte maturationM Kuronen
Folkhalsan Institute of Genetics, Helsinki, Finland
Neuropathol Appl Neurobiol 38:471-86. 2012b>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...
- Diagnosis of neuronal ceroid lipofuscinosis: mutation detection strategiesAmanda 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)...
- Assessing the safety features of electronic patient medication record systems used in community pharmacies in EnglandOluwagbemileke Ojeleye
Division of Social Research in Medicines and Health, School of Pharmacy, University of Nottingham, Nottingham, UK
Br J Clin Pharmacol 78:401-9. 2014To 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.
- Sensory rewiring in an echolocator: genome-wide modification of retinogenic and auditory genes in the bat Myotis davidiiNicholas 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, ..
- Cell biology of the NCL proteins: What they do and don't doJaime 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)...
- Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese PopulationEmiko 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...
- Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese populationCarla 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...
- Endoscopic piecemeal mucosal resection of large colorectal tumorsKeiichiro 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...
- The neuronal ceroid lipofuscinosis Cln8 gene expression is developmentally regulated in mouse brain and up-regulated in the hippocampal kindling model of epilepsyLiina 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 ..
- Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variationClarence 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...
- Phenotypic heterogeneity in consanguineous patients with a common CLN8 mutationMuhammad 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...
- Characterization of neuronal ceroid-lipofuscinosis in 3 catsM 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...
- Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosisLiliana 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...
- 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...
- Chromoendoscopy and high-magnification colonoscopy in early detection of colorectal cancerBo 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)...
- Early-postoperative magnetic resonance imaging in glial tumors: prediction of tumor regrowth and recurrenceGazanfer Ekinci
Marmara University Medical Faculty, Department of Radiology, Istanbul, Turkey
Eur J Radiol 45:99-107. 2003This 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.
- Effective electron-density map improvement and structure validation on a Linux multi-CPU web cluster: The TB Structural Genomics Consortium Bias Removal Web ServiceVinod 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...
- Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the MediterraneanNatalia 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...
- Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosisJonathan 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...
- Seizure susceptibility, phenotype, and resultant growth delay in the nclf and mnd mouse models of neuronal ceroid lipofuscinosesElizabeth 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...
- Analysis of perinatal deaths and ascertaining perinatal mortality trend in a hospitalS 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...
- Identifying protein partners of CLN8, an ER-resident protein involved in neuronal ceroid lipofuscinosisRosa 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 ..
- CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approachesSaria 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...
- Early MRI changes in glioblastoma in the period between surgery and adjuvant therapyPaolo 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 ..
- The evidence for the effectiveness of safety alerts in electronic patient medication record systems at the point of pharmacy order entry: a systematic reviewOluwagbemileke Ojeleye
Division of Social Research in Medicines and Health, University of Nottingham, Nottingham, UK
BMC Med Inform Decis Mak 13:69. 2013Electronic Patient Medication Record (ePMR) systems have important safety features embedded to alert users about potential clinical hazards and errors...
- Anti-inflammatory and anticancer activities of ethanol extract of pendulous monkshood root in vitroXian 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.
- Safety features and alerts in electronic patient medication record systems used in community pharmacy in England: an exploratory studyOluwagbemileke 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. 2013Safety features embedded in electronic Patient Medication Record (ePMR) systems alert users about clinical hazards and errors in prescribed medicines during order entry...
- Clinical outcomes of endoscopic submucosal dissection and endoscopic mucosal resection for laterally spreading tumors larger than 20 mmMotomi 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...
- Acyl chain specificity of ceramide synthases is determined within a region of 150 residues in the Tram-Lag-CLN8 (TLC) domainRotem Tidhar
Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
J Biol Chem 287:3197-206. 2012....
- Mouse models of neuronal ceroid lipofuscinoses: useful pre-clinical tools to delineate disease pathophysiology and validate therapeuticsJohn 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)...
- [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 ..
- Selective spatiotemporal patterns of glial activation and neuron loss in the sensory thalamocortical pathways of neuronal ceroid lipofuscinosis 8 miceMervi 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)...
- Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8pS Ranta
Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
Genome Res 6:351-60. 1996Progressive epilepsy with mental retardation (EPMR) is an autosomal recessive disorder discovered recently from an isolated region in Finland...
- High-resolution mapping and transcript identification at the progressive epilepsy with mental retardation locus on chromosome 8pS 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. 1997Progressive epilepsy with mental retardation (EPMR) is an autosomal recessive central nervous system disorder characterized by childhood onset epilepsy and subsequent mental retardation...
- The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8S 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)...
- Batten's disease: clues to neuronal protein catabolism in lysosomesG 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)...
- Positional cloning and characterisation of the human DLGAP2 gene and its exclusion in progressive epilepsy with mental retardationS Ranta
Folkhalsan Institute of Genetics, and Department of Medical Genetics, University of Helsinki, Finland
Eur J Hum Genet 8:381-4. 2000In 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)...
- Neuronal ceroid lipofuscinoses and possible pathogenic mechanismN 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)...
- The molecular genetic basis of the neuronal ceroid lipofuscinosesR 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...
- Neuronal ceroid lipofuscinoses: classification and diagnosisK 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...
- Biochemistry of neuronal ceroid lipofuscinosesM 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...
- Pheno/genotypic correlations of neuronal ceroid lipofuscinosesK 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)...
- Clinical and neuroradiological diagnostic aspects of neuronal ceroid lipofuscinoses disordersP 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.
- Northern epilepsy syndrome (NES, CLN8)--MRI and electrophysiological studiesL Lauronen
BioMag Laboratory, Medical Engineering Centre, Department of Radiology, Helsinki University Central Hospital, Helsinki, Finland
Eur J Paediatr Neurol 5:167-73. 2001Northern 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 ..
- Hippocampal lesions in the neuronal ceroid lipofuscinosesM 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...
- New mutations in the neuronal ceroid lipofuscinosis genesS 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)...
- 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 ..
- The development of behavioral abnormalities in the motor neuron degeneration (mnd) mouseValerie 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)...
- The neuronal ceroid lipofuscinoses: mutations in different proteins result in similar diseaseJill 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...
- Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosisJulie 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...
- 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...
- Human homologues of LAG1 reconstitute Acyl-CoA-dependent ceramide synthesis in yeastIsabelle 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 ..
- Structure of Thermus thermophilus HB8 H-protein of the glycine-cleavage system, resolved by a six-dimensional molecular-replacement methodTadashi 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...
- Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10Kristien 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...
- Current state of clinical and morphological features in human NCLHans 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)...
- The genetic spectrum of human neuronal ceroid-lipofuscinosesSara 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...
- Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsySusanna 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...
- CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum proteinSara 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...
- A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early agingOuti 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 ..
- Progression of early postnatal retinal pathology in a mouse model of neuronal ceroid lipofuscinosisG 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.
- Hippocampal pathology in the human neuronal ceroid-lipofuscinoses: distinct patterns of storage deposition, neurodegeneration and glial activationJaana 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)...
- A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosisMartin 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...
- Characterization of lipid-linked oligosaccharide accumulation in mouse models of Batten diseaseSteve 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...
- Behavioral assessment in mouse models of neuronal ceroid lipofuscinosis using a light-cued T-mazeKristy 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...
- Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinosesSara 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)...
- SGXPro: a parallel workflow engine enabling optimization of program performance and automation of structure determinationZheng 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...
- Mass spectrometric analysis reveals changes in phospholipid, neutral sphingolipid and sulfatide molecular species in progressive epilepsy with mental retardation, EPMR, brain: a case studyMartin 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 ..
- The CLN9 protein, a regulator of dihydroceramide synthaseAngela 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 ..
- Neuronal ceroid lipofuscinosis in Devon cattle is caused by a single base duplication (c.662dupG) in the bovine CLN5 genePeter 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)...
- 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...
- 12th International NCL CongressDavid 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 ..
- RETINAL CELL MODEL FOR BATTEN DISEASEDavid Pearce; Fiscal Year: 2002....
- 11th International Congress on Neuronal Ceroid LipofuscinosisDavid 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 ..
- Serum Proteomics for Biomarker Discovery in Batten DiseaseDavid 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]..