Pathogenic Effects of Novel Mutations in the P-Type ATPase ATP13A2 (PARK9) Causing Kufor-Rakeb Syndrome, a Form of Early-Onset Parkinsonism
Author(s)
Park, Jin-Sung
Mehta, Prachi
Cooper, Antony A
Veivers, David
Heimbach, Andre
Stiller, Barbara
Kubisch, Christian
Fung, Victor S
Krainc, Dimitri
Mackay-Sim, Alan
Sue, Carolyn M
Griffith University Author(s)
Year published
2011
Metadata
Show full item recordAbstract
Most brain diseases arise from interactions between complex genetic and environmental risk factors. Finding biomarkers for brain diseases will require appropriate cellular models to identify dysregulated cell functions and diseaseassociated biochemistries. Patient-derived stem cells hold great potential as models of brain diseases. Stem cells can proliferate and can be banked, stored, and thawed for genomic, proteomic, and functional studies. Patient-derived, induced pluripotent stem cells and adult stem cells from the olfactory organ in the nose are already giving novel insights into a number of brain diseases, including ...
View more >Most brain diseases arise from interactions between complex genetic and environmental risk factors. Finding biomarkers for brain diseases will require appropriate cellular models to identify dysregulated cell functions and diseaseassociated biochemistries. Patient-derived stem cells hold great potential as models of brain diseases. Stem cells can proliferate and can be banked, stored, and thawed for genomic, proteomic, and functional studies. Patient-derived, induced pluripotent stem cells and adult stem cells from the olfactory organ in the nose are already giving novel insights into a number of brain diseases, including Parkinson's disease and schizophrenia. Biomarker discovery may be possible from investigating disease-associated cell biologies in patient-derived stem cells.
View less >
View more >Most brain diseases arise from interactions between complex genetic and environmental risk factors. Finding biomarkers for brain diseases will require appropriate cellular models to identify dysregulated cell functions and diseaseassociated biochemistries. Patient-derived stem cells hold great potential as models of brain diseases. Stem cells can proliferate and can be banked, stored, and thawed for genomic, proteomic, and functional studies. Patient-derived, induced pluripotent stem cells and adult stem cells from the olfactory organ in the nose are already giving novel insights into a number of brain diseases, including Parkinson's disease and schizophrenia. Biomarker discovery may be possible from investigating disease-associated cell biologies in patient-derived stem cells.
View less >
Journal Title
Human Mutation
Volume
32
Issue
8
Subject
Genetics
Clinical Sciences