Missense variants in CMS22 patients reveal that PREPL has both enzymatic and nonenzymatic functions

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Neurodegenerative diseases, such as Alzheimer's, Parkinson's, and Huntington's, afflict tens of millions of patients worldwide. They are characterized by protein aggregation and progressive neuronal loss, leading to cognitive and motor impairments, and ult ...

Proteins drive most cellular functions and are key players in diseases, yet proteomics still lags behind genomics due to the complexity, diversity, and dynamic nature of proteoforms. Nanopore technology – known for real-time, single-molecule DNA sequencing ...

Latest advances in super-resolution microscopy allow the study of subcellular features at the level of single proteins, which could lead to discoveries in fundamental biological processes, specifically in cell signaling mediated by membrane receptors. Desp ...

Nanomaterial surfaces can be engineered by chemical modifications for the modulation of various surface properties including surface charges, hydrophobicity and chemical reactivity. These properties modulate in turn the interactions between the nanomateria ...

Natural genetic variation affects circadian rhythms across the evolutionary tree, but the underlying molecular mechanisms are poorly understood. We investigated population-level, molecular circadian clock variation by generating >700 tissue-specific transc ...

Purpose: We report the case of a neurologically asymptomatic young boy presenting with an unusual phenotype of CYP2U1 related macular dystrophy associating bilateral macular telangiectasia (MacTel) and fibrotic choroidal neovascularization (CNV), assessed ...

Missense variants in CMS22 patients reveal that PREPL has both enzymatic and nonenzymatic functions

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Intelligent and Self-Driving Microscopy of Protein Aggregation in Neurodegenerative Diseases

Advancing nanopore technology toward protein identification and sequencing

Spatial and stoichiometric in situ analysis of biomolecular oligomerization at single-protein resolution

Engineering nanomaterial surfaces for biomedical applications: antiviral surface coatings, antiviral nanoparticles and lipid-based biopharmaceutical drug systems

Extensive tissue-specific expression variation and novel regulators underlying circadian behavior

Macular Dystrophy with Bilateral Macular Telangiectasia Related to the CYP2U1 Pathogenic Variant Assessed with Multimodal Imaging Including OCT-Angiography