{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Kondori NR"],"funding":["Motor Neurone Disease Association"],"pagination":["e0188912"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5711026"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["12(12)"],"pubmed_abstract":["Amyotrophic lateral sclerosis (ALS) is the most common adult-onset neuromuscular disorder characterised by selective loss of motor neurons leading to fatal paralysis. Current therapeutic approaches are limited in their effectiveness. Substantial advances in understanding ALS disease mechanisms has come from the identification of pathogenic mutations in dominantly inherited familial ALS (FALS). We previously reported a coding mutation in D-amino acid oxidase (DAOR199W) associated with FALS. DAO metabolises D-serine, an essential co-agonist at the N-Methyl-D-aspartic acid glutamate receptor subtype (NMDAR). Using primary motor neuron cultures or motor neuron cell lines we demonstrated that expression of DAOR199W, promoted the formation of ubiquitinated protein aggregates, activated autophagy"],"journal":["PloS one"],"pubmed_title":["Characterisation of the pathogenic effects of the in vivo expression of an ALS-linked mutation in D-amino acid oxidase: Phenotype and loss of spinal cord motor neurons."],"pmcid":["PMC5711026"],"funding_grant_id":["DEBELLEROCHE/MAR10/6064","deBelleroche/Mar10/6064"],"pubmed_authors":["Robbins JP","de Belleroche JS","Liu K","Kondori NR","Paul P","Wells DJ","Hildyard JCW"],"additional_accession":[]},"is_claimable":false,"name":"Characterisation of the pathogenic effects of the in vivo expression of an ALS-linked mutation in D-amino acid oxidase: Phenotype and loss of spinal cord motor neurons.","description":"Amyotrophic lateral sclerosis (ALS) is the most common adult-onset neuromuscular disorder characterised by selective loss of motor neurons leading to fatal paralysis. Current therapeutic approaches are limited in their effectiveness. Substantial advances in understanding ALS disease mechanisms has come from the identification of pathogenic mutations in dominantly inherited familial ALS (FALS). We previously reported a coding mutation in D-amino acid oxidase (DAOR199W) associated with FALS. DAO metabolises D-serine, an essential co-agonist at the N-Methyl-D-aspartic acid glutamate receptor subtype (NMDAR). Using primary motor neuron cultures or motor neuron cell lines we demonstrated that expression of DAOR199W, promoted the formation of ubiquitinated protein aggregates, activated autophagy","dates":{"release":"2017-01-01T00:00:00Z","publication":"2017","modification":"2025-04-20T00:00:29.73Z","creation":"2019-03-27T03:03:34Z"},"accession":"S-EPMC5711026","cross_references":{"pubmed":["29194436"],"doi":["10.1371/journal.pone.0188912"]}}