PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson’s disease to perinatal lethality by disrupting mitochondrial pathways

Keyphrases

• Mitochondrial Pathway 100%
• Phenotypic Spectrum 100%
• Perinatal Lethality 100%
• Early Parkinson's Disease 100%
• PSMF1 100%
• Neurodegeneration 57%
• Parkinson's Disease 28%
• Biological Pathways 14%
• Age-dependent 14%
• Drosophilidae 14%
• Gain-of-function mutation 14%
• Parkinsonism 14%
• Knock-in Mouse Model 14%
• Knockdown 14%
• Therapeutic Target 14%
• Mitochondrial Membrane Potential 14%
• Genotype-phenotype Correlation 14%
• Biallelic 14%
• Cancer-associated Fibroblasts 14%
• Motor Impairment 14%
• Potential Therapeutics 14%
• Mitochondrial Dysfunction 14%
• Pedigree 14%
• Missense 14%
• Potential Biomarkers 14%
• Potential Identification 14%
• Gene Discovery 14%
• F-box 14%
• Valosin-containing Protein 14%
• Mitophagy 14%
• 20S Proteasome 14%
• Proteostasis Regulators 14%
• Neurological Manifestations 14%
• Mendelian Genes 14%
• PI31 14%
• Membrane Potential Dynamics 14%
• Perilesional Gliosis 14%

Biochemistry, Genetics and Molecular Biology

• Proteasome 100%
• Dynamics 50%
• Knockout Mouse 50%
• Mitochondrial Membrane Potential 50%
• Genotype Phenotype Correlation 50%
• Pedigree 50%
• Missense 50%
• Gene Discovery 50%
• Valosin-Containing Protein 50%
• Mitophagy 50%
• Mitochondrial Disorder 50%
• Gliosis 50%
• Fibroblast 50%

Neuroscience

• Parkinson's Disease 100%
• Neurodegeneration 80%
• Proteasome 40%
• Mitochondrial Membrane Potential 20%
• Parkinsonism 20%
• Stereotypic Movement Disorder 20%
• Mitophagy 20%
• Gliosis 20%
• Fibroblast 20%
• Valosin-Containing Protein 20%