| http://purl.uniprot.org/citations/31750563 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/31750563 | http://www.w3.org/2000/01/rdf-schema#comment | "Parkinson's disease (PD) is neurodegenerative movement disorder characterized by degeneration of midbrain-type dopamine (mDA) neurons in the substantia nigra (SN). The RNA-binding protein Lin28 plays a role in neuronal stem cell development and neuronal differentiation. In this study, we reveal that Lin28 conditional knockout (cKO) mice show degeneration of mDA neurons in the SN, as well as PD-related behavioral deficits. We identify a loss-of-function variant of LIN28A (R192G substitution) in two early-onset PD patients. Using an isogenic human embryonic stem cell (hESC)/human induced pluripotent stem cell (hiPSC)-based disease model, we find that the Lin28 R192G variant leads to developmental defects and PD-related phenotypes in mDA neuronal cells that can be rescued by expression of wild-type Lin28A. Cell transplantation experiments in PD model rats show that correction of the LIN28A variant in the donor patient (pt)-hiPSCs leads to improved behavioral phenotypes. Our data link LIN28A to PD pathogenesis and suggest future personalized medicine targeting this variant in patients."xsd:string |
| http://purl.uniprot.org/citations/31750563 | http://purl.org/dc/terms/identifier | "doi:10.15252/embj.2018101196"xsd:string |
| http://purl.uniprot.org/citations/31750563 | http://purl.uniprot.org/core/author | "Chung S.J."xsd:string |
| http://purl.uniprot.org/citations/31750563 | http://purl.uniprot.org/core/author | "Hwang J."xsd:string |
| http://purl.uniprot.org/citations/31750563 | http://purl.uniprot.org/core/author | "Lee M."xsd:string |
| http://purl.uniprot.org/citations/31750563 | http://purl.uniprot.org/core/author | "Kim J."xsd:string |
| http://purl.uniprot.org/citations/31750563 | http://purl.uniprot.org/core/author | "Kim Y.H."xsd:string |
| http://purl.uniprot.org/citations/31750563 | http://purl.uniprot.org/core/author | "Lee S.H."xsd:string |
| http://purl.uniprot.org/citations/31750563 | http://purl.uniprot.org/core/author | "Chang M.Y."xsd:string |
| http://purl.uniprot.org/citations/31750563 | http://purl.uniprot.org/core/author | "Park J."xsd:string |
| http://purl.uniprot.org/citations/31750563 | http://purl.uniprot.org/core/author | "Lee H.S."xsd:string |
| http://purl.uniprot.org/citations/31750563 | http://purl.uniprot.org/core/author | "Song J.J."xsd:string |
| http://purl.uniprot.org/citations/31750563 | http://purl.uniprot.org/core/author | "Kim S.W."xsd:string |
| http://purl.uniprot.org/citations/31750563 | http://purl.uniprot.org/core/author | "Kim E.H."xsd:string |
| http://purl.uniprot.org/citations/31750563 | http://purl.uniprot.org/core/author | "Choi M."xsd:string |
| http://purl.uniprot.org/citations/31750563 | http://purl.uniprot.org/core/author | "Lee M.J."xsd:string |
| http://purl.uniprot.org/citations/31750563 | http://purl.uniprot.org/core/author | "Choi J.E."xsd:string |
| http://purl.uniprot.org/citations/31750563 | http://purl.uniprot.org/core/author | "Jo A."xsd:string |
| http://purl.uniprot.org/citations/31750563 | http://purl.uniprot.org/core/author | "Oh B."xsd:string |
| http://purl.uniprot.org/citations/31750563 | http://purl.uniprot.org/core/author | "Heo J.Y."xsd:string |
| http://purl.uniprot.org/citations/31750563 | http://purl.uniprot.org/core/author | "Kwon O.C."xsd:string |
| http://purl.uniprot.org/citations/31750563 | http://purl.uniprot.org/core/author | "Woo H.J."xsd:string |
| http://purl.uniprot.org/citations/31750563 | http://purl.uniprot.org/core/author | "Ko J.Y."xsd:string |
| http://purl.uniprot.org/citations/31750563 | http://purl.uniprot.org/core/author | "Henry Kim H."xsd:string |