| http://purl.uniprot.org/citations/35726031 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/35726031 | http://www.w3.org/2000/01/rdf-schema#comment | "Mutations or deletions of the SHANK3 gene are causative for Phelan-McDermid syndrome (PMDS), a syndromic form of autism spectrum disorders (ASDs). We analyzed Shank3Δ11(-/-) mice and organoids from PMDS individuals to study effects on myelin. SHANK3 was found to be expressed in oligodendrocytes and Schwann cells, and MRI analysis of Shank3Δ11(-/-) mice revealed a reduced volume of the corpus callosum as seen in PMDS patients. Myelin proteins including myelin basic protein showed significant temporal and regional differences with lower levels in the CNS but increased amounts in the PNS of Shank3Δ11(-/-) animals. Node, as well as paranode, lengths were increased and ultrastructural analysis revealed region-specific alterations of the myelin sheaths. In PMDS hiPSC-derived cerebral organoids we observed an altered number and delayed maturation of myelinating cells. These findings provide evidence that, in addition to a synaptic deregulation, impairment of myelin might profoundly contribute to the clinical manifestation of SHANK3 deficiency."xsd:string |
| http://purl.uniprot.org/citations/35726031 | http://purl.org/dc/terms/identifier | "doi:10.1007/s00018-022-04400-4"xsd:string |
| http://purl.uniprot.org/citations/35726031 | http://purl.uniprot.org/core/author | "Pandey R."xsd:string |
| http://purl.uniprot.org/citations/35726031 | http://purl.uniprot.org/core/author | "Bockmann J."xsd:string |
| http://purl.uniprot.org/citations/35726031 | http://purl.uniprot.org/core/author | "Boeckers T.M."xsd:string |
| http://purl.uniprot.org/citations/35726031 | http://purl.uniprot.org/core/author | "Dimou L."xsd:string |
| http://purl.uniprot.org/citations/35726031 | http://purl.uniprot.org/core/author | "Delling J.P."xsd:string |
| http://purl.uniprot.org/citations/35726031 | http://purl.uniprot.org/core/author | "Ioannidis V."xsd:string |
| http://purl.uniprot.org/citations/35726031 | http://purl.uniprot.org/core/author | "Schon M."xsd:string |
| http://purl.uniprot.org/citations/35726031 | http://purl.uniprot.org/core/author | "Lutz A.K."xsd:string |
| http://purl.uniprot.org/citations/35726031 | http://purl.uniprot.org/core/author | "Volbracht K."xsd:string |
| http://purl.uniprot.org/citations/35726031 | http://purl.uniprot.org/core/author | "Cursano S."xsd:string |
| http://purl.uniprot.org/citations/35726031 | http://purl.uniprot.org/core/author | "Bauer H.F."xsd:string |
| http://purl.uniprot.org/citations/35726031 | http://purl.uniprot.org/core/author | "Incearap B."xsd:string |
| http://purl.uniprot.org/citations/35726031 | http://purl.uniprot.org/core/author | "Arevalo A.P."xsd:string |
| http://purl.uniprot.org/citations/35726031 | http://purl.uniprot.org/core/author | "Lerner J.J."xsd:string |
| http://purl.uniprot.org/citations/35726031 | http://purl.uniprot.org/core/author | "Malara M."xsd:string |
| http://purl.uniprot.org/citations/35726031 | http://purl.uniprot.org/core/author | "von Bernhardi J.E."xsd:string |
| http://purl.uniprot.org/citations/35726031 | http://purl.uniprot.org/core/date | "2022"xsd:gYear |
| http://purl.uniprot.org/citations/35726031 | http://purl.uniprot.org/core/name | "Cell Mol Life Sci"xsd:string |
| http://purl.uniprot.org/citations/35726031 | http://purl.uniprot.org/core/pages | "371"xsd:string |
| http://purl.uniprot.org/citations/35726031 | http://purl.uniprot.org/core/title | "SHANK3 deficiency leads to myelin defects in the central and peripheral nervous system."xsd:string |
| http://purl.uniprot.org/citations/35726031 | http://purl.uniprot.org/core/volume | "79"xsd:string |
| http://purl.uniprot.org/citations/35726031 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/35726031 |