Genetics and pathogenesis of Parkinson's syndrome
Parkinson's disease (PD) is clinically, pathologically, and genetically heterogeneous,
resisting distillation to a single, cohesive disorder. Instead, each affected individual develops …
resisting distillation to a single, cohesive disorder. Instead, each affected individual develops …
The Ins and Outs of Cathepsins: Physiological Function and Role in Disease Management
T Yadati, T Houben, A Bitorina, R Shiri-Sverdlov - Cells, 2020 - mdpi.com
Cathepsins are the most abundant lysosomal proteases that are mainly found in acidic
endo/lysosomal compartments where they play a vital role in intracellular protein …
endo/lysosomal compartments where they play a vital role in intracellular protein …
Parkinson's disease-risk protein TMEM175 is a proton-activated proton channel in lysosomes
Lysosomes require an acidic lumen between pH 4.5 and 5.0 for effective digestion of
macromolecules. This pH optimum is maintained by proton influx produced by the V-ATPase …
macromolecules. This pH optimum is maintained by proton influx produced by the V-ATPase …
A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci
D Chang, MA Nalls, IB Hallgrímsdóttir, J Hunkapiller… - Nature …, 2017 - nature.com
Common variant genome-wide association studies (GWASs) have, to date, identified> 24
risk loci for Parkinson's disease (PD). To discover additional loci, we carried out a GWAS …
risk loci for Parkinson's disease (PD). To discover additional loci, we carried out a GWAS …
Autophagy in Parkinson's disease
Impaired protein homeostasis and accumulation of damaged or abnormally modified protein
are common disease mechanisms in many neurodegenerative disorders, including …
are common disease mechanisms in many neurodegenerative disorders, including …
α-synuclein toxicity in neurodegeneration: mechanism and therapeutic strategies
Alterations in α-synuclein dosage lead to familial Parkinson's disease (PD), and its
accumulation results in synucleinopathies that include PD, dementia with Lewy bodies …
accumulation results in synucleinopathies that include PD, dementia with Lewy bodies …
Conformational strains of pathogenic amyloid proteins in neurodegenerative diseases
Amyloid proteins, which are considered 'villains' in many neurodegenerative diseases, form
enigmatic pathological strains that underlie disease pathogenesis and progression. Recent …
enigmatic pathological strains that underlie disease pathogenesis and progression. Recent …
Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease
LA Robak, IE Jansen, J Van Rooij, AG Uitterlinden… - Brain, 2017 - academic.oup.com
Mutations in the glucocerebrosidase gene (GBA), which cause Gaucher disease, are also
potent risk factors for Parkinson's disease. We examined whether a genetic burden of …
potent risk factors for Parkinson's disease. We examined whether a genetic burden of …
Genome-scale metabolic network reconstruction of model animals as a platform for translational research
Genome-scale metabolic models (GEMs) are used extensively for analysis of mechanisms
underlying human diseases and metabolic malfunctions. However, the lack of …
underlying human diseases and metabolic malfunctions. However, the lack of …
α-Synuclein–induced lysosomal dysfunction occurs through disruptions in protein trafficking in human midbrain synucleinopathy models
JR Mazzulli, F Zunke, O Isacson… - Proceedings of the …, 2016 - National Acad Sciences
Parkinson's disease (PD) is an age-related neurodegenerative disorder characterized by the
accumulation of protein aggregates comprised of α-synuclein (α-syn). A major barrier in …
accumulation of protein aggregates comprised of α-synuclein (α-syn). A major barrier in …