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Search results 1 to 100 out of 122 for Nhlrc1

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0.046s
Type Details Score
Gene
Type: gene
Organism: human
Gene
Type: gene
Organism: cattle
Gene
Type: gene
Organism: chicken
Gene
Type: gene
Organism: macaque, rhesus
Gene
Type: gene
Organism: frog, western clawed
Gene
Type: gene
Organism: rat
Gene
Type: gene
Organism: dog, domestic
Gene
Type: gene
Organism: chimpanzee
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Publication
First Author: Turnbull J
Year: 2010
Journal: Ann Neurol
Title: Glycogen hyperphosphorylation underlies lafora body formation.
Volume: 68
Issue: 6
Pages: 925-33
Publication
First Author: Criado O
Year: 2012
Journal: Hum Mol Genet
Title: Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy.
Volume: 21
Issue: 7
Pages: 1521-33
Publication
First Author: Tiberia E
Year: 2012
Journal: J Biol Chem
Title: Increased laforin and laforin binding to glycogen underlie Lafora body formation in malin-deficient Lafora disease.
Volume: 287
Issue: 30
Pages: 25650-9
Publication
First Author: Chan EM
Year: 2003
Journal: Nat Genet
Title: Mutations in NHLRC1 cause progressive myoclonus epilepsy.
Volume: 35
Issue: 2
Pages: 125-7
Publication
First Author: Taneja K
Year: 2021
Journal: J Comp Neurol
Title: Dendritic spine abnormalities correlate with behavioral and cognitive deficits in mouse models of Lafora disease.
Volume: 529
Issue: 6
Pages: 1099-1120
Publication
First Author: Zeng L
Year: 2012
Journal: FEBS J
Title: Laforin is required for the functional activation of malin in endoplasmic reticulum stress resistance in neuronal cells.
Volume: 279
Issue: 14
Pages: 2467-78
Publication  
First Author: Upadhyay M
Year: 2017
Journal: Neurobiol Dis
Title: Loss of laforin or malin results in increased Drp1 level and concomitant mitochondrial fragmentation in Lafora disease mouse models.
Volume: 100
Pages: 39-51
Protein
Organism: Mus musculus/domesticus
Length: 401  
Fragment?: false
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus caroli
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus pahari
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus spretus
Publication  
First Author: Rubio T
Year: 2023
Journal: Neurobiol Dis
Title: TNF and IL6/Jak2 signaling pathways are the main contributors of the glia-derived neuroinflammation present in Lafora disease, a fatal form of progressive myoclonus epilepsy.
Volume: 176
Pages: 105964
Publication  
First Author: Muñoz-Ballester C
Year: 2019
Journal: Exp Neurol
Title: In vivo glutamate clearance defects in a mouse model of Lafora disease.
Volume: 320
Pages: 112959
Publication
First Author: Berthier A
Year: 2016
Journal: Mol Neurobiol
Title: Pharmacological Interventions to Ameliorate Neuropathological Symptoms in a Mouse Model of Lafora Disease.
Volume: 53
Issue: 2
Pages: 1296-309
Publication
First Author: Sánchez-Elexpuru G
Year: 2017
Journal: Neuroreport
Title: 4-Phenylbutyric acid and metformin decrease sensitivity to pentylenetetrazol-induced seizures in a malin knockout model of Lafora disease.
Volume: 28
Issue: 5
Pages: 268-271
Publication
First Author: DePaoli-Roach AA
Year: 2010
Journal: J Biol Chem
Title: Genetic depletion of the malin E3 ubiquitin ligase in mice leads to lafora bodies and the accumulation of insoluble laforin.
Volume: 285
Issue: 33
Pages: 25372-81
Publication
First Author: Gentry MS
Year: 2005
Journal: Proc Natl Acad Sci U S A
Title: Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin.
Volume: 102
Issue: 24
Pages: 8501-6
Publication
First Author: Nitschke F
Year: 2013
Journal: Cell Metab
Title: Hyperphosphorylation of glucosyl C6 carbons and altered structure of glycogen in the neurodegenerative epilepsy Lafora disease.
Volume: 17
Issue: 5
Pages: 756-67
Publication
First Author: Turnbull J
Year: 2014
Journal: Ann Neurol
Title: PTG protein depletion rescues malin-deficient Lafora disease in mouse.
Volume: 75
Issue: 3
Pages: 442-6
Publication  
First Author: Varea O
Year: 2021
Journal: Neurobiol Dis
Title: Suppression of glycogen synthesis as a treatment for Lafora disease: Establishing the window of opportunity.
Volume: 147
Pages: 105173
Publication
First Author: Romá-Mateo C
Year: 2015
Journal: Mol Neurobiol
Title: Increased oxidative stress and impaired antioxidant response in Lafora disease.
Volume: 51
Issue: 3
Pages: 932-46
Publication
First Author: López-González I
Year: 2017
Journal: Mol Neurobiol
Title: Inflammation in Lafora Disease: Evolution with Disease Progression in Laforin and Malin Knock-out Mouse Models.
Volume: 54
Issue: 5
Pages: 3119-3130
Publication
First Author: García-Cabrero AM
Year: 2012
Journal: J Neuropathol Exp Neurol
Title: Laforin and malin deletions in mice produce similar neurologic impairments.
Volume: 71
Issue: 5
Pages: 413-21
Publication  
First Author: García-Cabrero AM
Year: 2014
Journal: Front Neurosci
Title: Enhanced sensitivity of laforin- and malin-deficient mice to the convulsant agent pentylenetetrazole.
Volume: 8
Pages: 291
Publication
First Author: Rubio-Villena C
Year: 2018
Journal: Hum Mol Genet
Title: Astrocytes: new players in progressive myoclonus epilepsy of Lafora type.
Volume: 27
Issue: 7
Pages: 1290-1300
Publication
First Author: Valles-Ortega J
Year: 2011
Journal: EMBO Mol Med
Title: Neurodegeneration and functional impairments associated with glycogen synthase accumulation in a mouse model of Lafora disease.
Volume: 3
Issue: 11
Pages: 667-81
Publication
First Author: DePaoli-Roach AA
Year: 2015
Journal: J Biol Chem
Title: Glycogen phosphomonoester distribution in mouse models of the progressive myoclonic epilepsy, Lafora disease.
Volume: 290
Issue: 2
Pages: 841-50
Publication
First Author: Sinadinos C
Year: 2014
Journal: Aging Cell
Title: Neuronal glycogen synthesis contributes to physiological aging.
Volume: 13
Issue: 5
Pages: 935-45
Publication
First Author: DePaoli-Roach AA
Year: 2012
Journal: Hum Mol Genet
Title: Laforin and malin knockout mice have normal glucose disposal and insulin sensitivity.
Volume: 21
Issue: 7
Pages: 1604-10
Publication
First Author: Garyali P
Year: 2014
Journal: J Biol Chem
Title: Protein degradation and quality control in cells from laforin and malin knockout mice.
Volume: 289
Issue: 30
Pages: 20606-14
Publication
First Author: Nitschke S
Year: 2020
Journal: J Biol Chem
Title: Sensitive quantification of α-glucans in mouse tissues, cell cultures, and human cerebrospinal fluid.
Volume: 295
Issue: 43
Pages: 14698-14709
Publication
First Author: Vernia S
Year: 2009
Journal: PLoS One
Title: Increased endoplasmic reticulum stress and decreased proteasomal function in lafora disease models lacking the phosphatase laforin.
Volume: 4
Issue: 6
Pages: e5907
Publication  
First Author: Burgos DF
Year: 2020
Journal: Int J Mol Sci
Title: Structural and Functional Brain Abnormalities in Mouse Models of Lafora Disease.
Volume: 21
Issue: 20
Publication  
First Author: Romá-Mateo C
Year: 2023
Journal: Int J Mol Sci
Title: Age-Related microRNA Overexpression in Lafora Disease Male Mice Provides Links between Neuroinflammation and Oxidative Stress.
Volume: 24
Issue: 2
Publication
First Author: Pellegrini P
Year: 2022
Journal: Mol Neurobiol
Title: Lack of p62 Impairs Glycogen Aggregation and Exacerbates Pathology in a Mouse Model of Myoclonic Epilepsy of Lafora.
Volume: 59
Issue: 2
Pages: 1214-1229
Publication
First Author: Duran J
Year: 2014
Journal: Hum Mol Genet
Title: Glycogen accumulation underlies neurodegeneration and autophagy impairment in Lafora disease.
Volume: 23
Issue: 12
Pages: 3147-56
Publication
First Author: Muñoz-Ballester C
Year: 2016
Journal: Biochim Biophys Acta
Title: Homeostasis of the astrocytic glutamate transporter GLT-1 is altered in mouse models of Lafora disease.
Volume: 1862
Issue: 6
Pages: 1074-83
Publication
First Author: Augé E
Year: 2018
Journal: Glia
Title: Astrocytes and neurons produce distinct types of polyglucosan bodies in Lafora disease.
Volume: 66
Issue: 10
Pages: 2094-2107
Publication
First Author: Sullivan MA
Year: 2019
Journal: Cell Rep
Title: Skeletal Muscle Glycogen Chain Length Correlates with Insolubility in Mouse Models of Polyglucosan-Associated Neurodegenerative Diseases.
Volume: 27
Issue: 5
Pages: 1334-1344.e6
Publication
First Author: Jain N
Year: 2016
Journal: Biochem Biophys Res Commun
Title: FoxO3a-mediated autophagy is down-regulated in the laforin deficient mice, an animal model for Lafora progressive myoclonus epilepsy.
Volume: 474
Issue: 2
Pages: 321-327
Publication
First Author: Nitschke F
Year: 2017
Journal: EMBO Mol Med
Title: Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease.
Volume: 9
Issue: 7
Pages: 906-917
Publication  
First Author: Mitra S
Year: 2023
Journal: Dis Model Mech
Title: Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy.
Volume: 16
Issue: 1
Publication
First Author: Vilchez D
Year: 2007
Journal: Nat Neurosci
Title: Mechanism suppressing glycogen synthesis in neurons and its demise in progressive myoclonus epilepsy.
Volume: 10
Issue: 11
Pages: 1407-13
Publication
First Author: Cheng A
Year: 2007
Journal: Genes Dev
Title: A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease.
Volume: 21
Issue: 19
Pages: 2399-409
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: The Jackson Laboratory
Year: 2005
Journal: Unpublished
Title: Information obtained from The Jackson Laboratory, Bar Harbor, ME
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: FANTOM2 Data Curation in Mouse Genome Informatics
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations for FANTOM2 data
Publication      
First Author: Lennon G
Year: 1999
Journal: Database Download
Title: WashU-HHMI Mouse EST Project
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: Cyagen Biosciences Inc.
Year: 2022
Title: Cyagen Biosciences Website.
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: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
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: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2000
Title: Gene Ontology Annotation by electronic association of SwissProt Keywords with GO terms
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: 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: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Human to Mouse ISO GO annotation transfer
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: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
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: 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: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
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
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
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