| http://purl.uniprot.org/citations/34108486 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/34108486 | http://www.w3.org/2000/01/rdf-schema#comment | "Lysosomal storage disorders characterized by altered metabolism of heparan sulfate, including Mucopolysaccharidosis (MPS) III and MPS-II, exhibit lysosomal dysfunctions leading to neurodegeneration and dementia in children. In lysosomal storage disorders, dementia is preceded by severe and therapy-resistant autistic-like symptoms of unknown cause. Using mouse and cellular models of MPS-IIIA, we discovered that autistic-like behaviours are due to increased proliferation of mesencephalic dopamine neurons originating during embryogenesis, which is not due to lysosomal dysfunction, but to altered HS function. Hyperdopaminergia and autistic-like behaviours are corrected by the dopamine D1-like receptor antagonist SCH-23390, providing a potential alternative strategy to the D2-like antagonist haloperidol that has only minimal therapeutic effects in MPS-IIIA. These findings identify embryonic dopaminergic neurodevelopmental defects due to altered function of HS leading to autistic-like behaviours in MPS-II and MPS-IIIA and support evidence showing that altered HS-related gene function is causative of autism."xsd:string |
| http://purl.uniprot.org/citations/34108486 | http://purl.org/dc/terms/identifier | "doi:10.1038/s41467-021-23903-5"xsd:string |
| http://purl.uniprot.org/citations/34108486 | http://purl.uniprot.org/core/author | "Ballabio A."xsd:string |
| http://purl.uniprot.org/citations/34108486 | http://purl.uniprot.org/core/author | "Cristino L."xsd:string |
| http://purl.uniprot.org/citations/34108486 | http://purl.uniprot.org/core/author | "Bellenchi G.C."xsd:string |
| http://purl.uniprot.org/citations/34108486 | http://purl.uniprot.org/core/author | "Monfregola J."xsd:string |
| http://purl.uniprot.org/citations/34108486 | http://purl.uniprot.org/core/author | "Fraldi A."xsd:string |
| http://purl.uniprot.org/citations/34108486 | http://purl.uniprot.org/core/author | "Ferraro M.G."xsd:string |
| http://purl.uniprot.org/citations/34108486 | http://purl.uniprot.org/core/author | "Santoro F."xsd:string |
| http://purl.uniprot.org/citations/34108486 | http://purl.uniprot.org/core/author | "Papy-Garcia D."xsd:string |
| http://purl.uniprot.org/citations/34108486 | http://purl.uniprot.org/core/author | "Lubrano C."xsd:string |
| http://purl.uniprot.org/citations/34108486 | http://purl.uniprot.org/core/author | "Marrocco E."xsd:string |
| http://purl.uniprot.org/citations/34108486 | http://purl.uniprot.org/core/author | "De Leonibus E."xsd:string |
| http://purl.uniprot.org/citations/34108486 | http://purl.uniprot.org/core/author | "Pulcrano S."xsd:string |
| http://purl.uniprot.org/citations/34108486 | http://purl.uniprot.org/core/author | "De Risi M."xsd:string |
| http://purl.uniprot.org/citations/34108486 | http://purl.uniprot.org/core/author | "Alvino F.G."xsd:string |
| http://purl.uniprot.org/citations/34108486 | http://purl.uniprot.org/core/author | "Tufano M."xsd:string |
| http://purl.uniprot.org/citations/34108486 | http://purl.uniprot.org/core/author | "Gigante Y."xsd:string |
| http://purl.uniprot.org/citations/34108486 | http://purl.uniprot.org/core/author | "Salleo A."xsd:string |
| http://purl.uniprot.org/citations/34108486 | http://purl.uniprot.org/core/author | "Torromino G."xsd:string |
| http://purl.uniprot.org/citations/34108486 | http://purl.uniprot.org/core/author | "Tuchman Y."xsd:string |
| http://purl.uniprot.org/citations/34108486 | http://purl.uniprot.org/core/author | "Tunisi L."xsd:string |
| http://purl.uniprot.org/citations/34108486 | http://purl.uniprot.org/core/date | "2021"xsd:gYear |
| http://purl.uniprot.org/citations/34108486 | http://purl.uniprot.org/core/name | "Nat Commun"xsd:string |