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Guidelines for the use and interpretation of assays for monitoring autophagy
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.
Autoantibodies against type I IFNs in patients with life-threatening COVID-19
A means by which individuals at highest risk of life-threatening COVID-19 can be identified is identified, and the hypothesis that neutralizing auto-Abs against type I IFNs may underlie critical CO VID-19 is tested.
Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption.
Insight is provided into Mg2+ homeostasis, the role of a tight junction protein in human disease is demonstrated, and an essential component of a selective paracellular conductance is identified.
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism.
It is described that PINK1 mutations confer different autophosphorylation activity, which is regulated by the C-terminal portion of the protein, and the mitochondrial localization of both wild-type and mutant Pink1 proteins unequivocally.
Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump α2 subunit associated with familial hemiplegic migraine type 2
Results show that mutations in the gene ATP1A2 that encodes the α2 subunit of the Na+/K+ pump are associated with familial hemiplegic migraine type 2 (FHM2) linked to chromosome 1q23 (OMIM 602481).
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants
SNPs at nine loci were reproducibly associated with myocardial infarction, but tests of common and rare CNVs failed to identify additional associations with my Cardiovascular Infarction risk.
The Parkinson-associated protein PINK1 interacts with Beclin1 and promotes autophagy
This work reports a new interaction between PINK1 and Beclin1, a key pro-autophagic protein already implicated in the pathogenesis of Alzheimer's and Huntington's diseases, and identifies a new function of Pink1 and further strengthen the link between autophagy and proteins implicated inThe neurodegenerative process.
In search of antisense.
Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia
The function of paraplegin at the cellular level is analyzed and the phenotypic defects of HSP patients' cells lacking this protein are characterized and functionally link AFG3L2 to this neurodegenerative disease.