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Search results 1 to 56 out of 56 for Cln5

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Category: Publication
Type Details Score
Publication
First Author: Pineda-Trujillo N
Year: 2005
Journal: Neurology
Title: A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset.
Volume: 64
Issue: 4
Pages: 740-2
Publication
First Author: Cannelli N
Year: 2007
Journal: Neuropediatrics
Title: Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis.
Volume: 38
Issue: 1
Pages: 46-9
Publication
First Author: Melville SA
Year: 2005
Journal: Genomics
Title: A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs.
Volume: 86
Issue: 3
Pages: 287-94
Publication
First Author: Lebrun AH
Year: 2009
Journal: Hum Mutat
Title: Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.
Volume: 30
Issue: 5
Pages: E651-61
Publication
First Author: Houweling PJ
Year: 2006
Journal: Biochim Biophys Acta
Title: Neuronal ceroid lipofuscinosis in Devon cattle is caused by a single base duplication (c.662dupG) in the bovine CLN5 gene.
Volume: 1762
Issue: 10
Pages: 890-7
Publication
First Author: Bessa C
Year: 2006
Journal: Mol Genet Metab
Title: Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency.
Volume: 89
Issue: 3
Pages: 245-53
Publication
First Author: Luebben AV
Year: 2022
Journal: Sci Adv
Title: Cln5 represents a new type of cysteine-based S-depalmitoylase linked to neurodegeneration.
Volume: 8
Issue: 15
Pages: eabj8633
Publication  
First Author: Doccini S
Year: 2022
Journal: Cells
Title: Lysosomal Proteomics Links Disturbances in Lipid Homeostasis and Sphingolipid Metabolism to CLN5 Disease.
Volume: 11
Issue: 11
Publication
First Author: Leinonen H
Year: 2017
Journal: Sci Rep
Title: Retinal Degeneration In A Mouse Model Of CLN5 Disease Is Associated With Compromised Autophagy.
Volume: 7
Issue: 1
Pages: 1597
Publication
First Author: Savukoski M
Year: 1998
Journal: Nat Genet
Title: CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.
Volume: 19
Issue: 3
Pages: 286-8
Publication
First Author: Kousi M
Year: 2012
Journal: Hum Mutat
Title: Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
Volume: 33
Issue: 1
Pages: 42-63
Publication
First Author: Holmberg V
Year: 2004
Journal: Neurobiol Dis
Title: The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain.
Volume: 16
Issue: 1
Pages: 29-40
Publication  
First Author: Lyly A
Year: 2009
Journal: BMC Cell Biol
Title: Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins.
Volume: 10
Pages: 83
Publication
First Author: Singh Y
Year: 2019
Journal: Hum Mol Genet
Title: Loss of Cln5 leads to altered Gad1 expression and deficits in interneuron development in mice.
Volume: 28
Issue: 19
Pages: 3309-3322
Publication
First Author: Fabritius AL
Year: 2014
Journal: Exp Mol Pathol
Title: Neuronal ceroid lipofuscinosis genes, CLN2, CLN3 and CLN5 are spatially and temporally co-expressed in a developing mouse brain.
Volume: 97
Issue: 3
Pages: 484-91
Publication  
First Author: von Schantz C
Year: 2008
Journal: BMC Genomics
Title: Brain gene expression profiles of Cln1 and Cln5 deficient mice unravels common molecular pathways underlying neuronal degeneration in NCL diseases.
Volume: 9
Pages: 146
Publication  
First Author: Minye HM
Year: 2016
Journal: Data Brief
Title: Data on characterizing the gene expression patterns of neuronal ceroid lipofuscinosis genes: CLN1, CLN2, CLN3, CLN5 and their association to interneuron and neurotransmission markers: Parvalbumin and Somatostatin.
Volume: 8
Pages: 741-9
Publication
First Author: Savchenko E
Year: 2017
Journal: Dis Model Mech
Title: Loss of Cln5 causes altered neurogenesis in a mouse model of a childhood neurodegenerative disorder.
Volume: 10
Issue: 9
Pages: 1089-1100
Publication
First Author: Schmiedt ML
Year: 2012
Journal: Neurobiol Dis
Title: Cln5-deficiency in mice leads to microglial activation, defective myelination and changes in lipid metabolism.
Volume: 46
Issue: 1
Pages: 19-29
Publication
First Author: Kopra O
Year: 2004
Journal: Hum Mol Genet
Title: A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging.
Volume: 13
Issue: 23
Pages: 2893-906
Publication
First Author: Blom T
Year: 2013
Journal: Dis Model Mech
Title: Exacerbated neuronal ceroid lipofuscinosis phenotype in Cln1/5 double-knockout mice.
Volume: 6
Issue: 2
Pages: 342-57
Publication
First Author: Chen J
Year: 2011
Journal: Circulation
Title: Wnt signaling mediates pathological vascular growth in proliferative retinopathy.
Volume: 124
Issue: 17
Pages: 1871-81
Publication
First Author: Danyukova T
Year: 2018
Journal: Hum Mol Genet
Title: Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation.
Volume: 27
Issue: 10
Pages: 1711-1722
Publication
First Author: Tardy C
Year: 2009
Journal: Biochim Biophys Acta
Title: Palmitoyl protein thioesterase 1 modulates tumor necrosis factor alpha-induced apoptosis.
Volume: 1793
Issue: 7
Pages: 1250-8
Publication
First Author: Argaw AT
Year: 2009
Journal: Proc Natl Acad Sci U S A
Title: VEGF-mediated disruption of endothelial CLN-5 promotes blood-brain barrier breakdown.
Volume: 106
Issue: 6
Pages: 1977-82
Publication
First Author: Peterson KA
Year: 2002
Journal: Genomics
Title: Functional and comparative genomic analysis of the piebald deletion region of mouse chromosome 14.
Volume: 80
Issue: 2
Pages: 172-84
Publication
First Author: Cho SK
Year: 2005
Journal: Glycobiology
Title: Characterization of lipid-linked oligosaccharide accumulation in mouse models of Batten disease.
Volume: 15
Issue: 6
Pages: 637-48
Publication
First Author: Vezzali R
Year: 2016
Journal: Oncotarget
Title: The FOXG1/FOXO/SMAD network balances proliferation and differentiation of cortical progenitors and activates Kcnh3 expression in mature neurons.
Volume: 7
Issue: 25
Pages: 37436-37455
Publication      
First Author: Shanghai Model Organisms Center
Year: 2017
Journal: MGI Direct Data Submission
Title: Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China
Publication  
First Author: Collin GB
Year: 2020
Journal: Cells
Title: Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss.
Volume: 9
Issue: 4
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Journal: Database Download
Title: Integrating Computational Gene Models into the Mouse Genome Informatics (MGI) Database
Publication        
First Author: The Gene Ontology Consortium
Year: 2016
Title: Automatic assignment of GO terms using logical inference, based on on inter-ontology links
Publication      
First Author: Velocigene
Year: 2008
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by Velocigene (Regeneron Pharmaceuticals)
Publication      
First Author: Helmholtz Zentrum Muenchen GmbH
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the EUCOMM and EUCOMMTools projects by the Helmholtz Zentrum Muenchen GmbH (Hmgu)
Publication
First Author: Magdaleno S
Year: 2006
Journal: PLoS Biol
Title: BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system.
Volume: 4
Issue: 4
Pages: e86
Publication
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
Publication        
First Author: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
Publication        
First Author: AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators
Year: 2011
Title: Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
Publication        
First Author: GOA curators
Year: 2016
Title: Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Publication      
First Author: The Jackson Laboratory Mouse Radiation Hybrid Database
Year: 2004
Journal: Database Release
Title: Mouse T31 Radiation Hybrid Data Load
Publication
First Author: Okazaki Y
Year: 2002
Journal: Nature
Title: Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
Volume: 420
Issue: 6915
Pages: 563-73
Publication        
First Author: The Gene Ontology Consortium
Year: 2010
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs
Publication
First Author: Diez-Roux G
Year: 2011
Journal: PLoS Biol
Title: A high-resolution anatomical atlas of the transcriptome in the mouse embryo.
Volume: 9
Issue: 1
Pages: e1000582
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2).
Publication        
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
Publication      
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
Publication      
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform
Publication      
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
Publication      
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
Publication      
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
Publication      
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform