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Guidelines for the use and interpretation of assays for monitoring autophagy
TLDR
These guidelines are presented for the selection and interpretation of methods for use by investigators who aim to examine macroautophagy and related processes, as well as for reviewers who need to provide realistic and reasonable critiques of papers that are focused on these processes. Expand
PINK1 Is Selectively Stabilized on Impaired Mitochondria to Activate Parkin
TLDR
The authors suggest that PINK1 and Parkin form a pathway that senses damaged mitochondria and selectively targets them for degradation. Expand
The Parkinson's disease protein DJ-1 is neuroprotective due to cysteine-sulfinic acid-driven mitochondrial localization
TLDR
It is suggested that DJ-1 protects against neuronal death, and that this is signaled by acidification of the key cysteine residue, C106, which is promoted by the crystallization procedure. Expand
Genome-Wide Association Study reveals genetic risk underlying Parkinson’s disease
TLDR
It is demonstrated that an unequivocal role for common genetic variants in the etiology of typical PD and population-specific genetic heterogeneity in this disease is suggested, and supporting evidence that common variation around LRRK2 modulates risk for PD is provided. Expand
α-Synuclein Locus Triplication Causes Parkinson's Disease
Mutations in the α-synuclein gene ( SNCA ) in the Contursi kindred ([ 1 ][1]) implicated this gene in Parkinson's disease (PD). Subsequently, α-synuclein was identified as the major component of LewyExpand
Abundant Quantitative Trait Loci Exist for DNA Methylation and Gene Expression in Human Brain
TLDR
A set of integrated experiments that investigate the effects of common genetic variability on DNA methylation and mRNA expression in four human brain regions each from 150 individuals find an abundance of genetic cis regulation of mRNA expression and show for the first time abundant quantitative trait loci for DNA CpG methylation across the genome. Expand
Genetic variability in the regulation of gene expression in ten regions of the human brain
TLDR
This study presents a large, exon-specific eQTL data set covering ten human brain regions and finds that cis-eQTL signals (within 1 Mb of their target gene) were numerous, and many acted heterogeneously among regions and exons. Expand
Mutations in PTEN-induced putative kinase 1 associated with recessive parkinsonism have differential effects on protein stability.
TLDR
Results show that PINK1 is processed at the N terminus in a manner consistent with mitochondrial import, but the mature protein also exists in the cytosol, which implies that a portion of Pink1 may be exported after processing in the mitochondria. Expand
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
TLDR
Exome sequencing data provide more evidence supporting the role of aberrant RNA processing in motor neuron degeneration in ALS kindreds and observed MATR3 pathology in ALS-affected spinal cords with and withoutMATR3 mutations. Expand
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