Associated Papers
Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.
Buckley M et al.
Nature Genetics, 2024
38969834 (PubMed )
Supplement: 41588_2024_1800_MOESM4_ESM.xlsx › ST1
Contribution of A-to-I RNA editing, M6A RNA Methylation, and Alternative Splicing to physiological brain aging and neurodegenerative diseases.
Tassinari V et al.
Mechanisms of Ageing and Development, 2023
Amyotrophic Lateral Sclerosis Genes in Drosophila melanogaster.
Layalle S et al.
International Journal of Molecular Sciences, 2021
Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.
Fields FR et al.
Plos One, 2020
33151962 (PubMed )
Supplement: pone.0234100.s006.xlsx › Missense_Mutations_Unweighted
Diversity of astroglial responses across human neurodegenerative disorders and brain aging.
Ferrer I
Brain Pathology (zurich, Switzerland), 2017
SOD1 and DJ-1 converge at Nrf2 pathway: a clue for antioxidant therapeutic potential in neurodegeneration.
Milani P et al.
Oxidative Medicine and Cellular Longevity, 2013
Misfolded SOD1 and ALS: zeroing in on mitochondria.
Pickles S et al.
Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 2012
Cross-functional E3 ligases Parkin and C-terminus Hsp70-interacting protein in neurodegenerative disorders.
Kumar P et al.
Journal of Neurochemistry, 2012
Proteomic analysis of mitochondrial dysfunction in neurodegenerative diseases.
Rodolfo C et al.
Expert Review of Proteomics, 2010
Effect of ubiquitin expression on neuropathogenesis in a mouse model of familial amyotrophic lateral sclerosis.
Gilchrist CA et al.
Neuropathology and Applied Neurobiology, 2005
Dorfin localizes to Lewy bodies and ubiquitylates synphilin-1.
Ito T et al.
The Journal of Biological Chemistry, 2003
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