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Review
Genetics & Heredity
Sanna Gudmundsson et al.
Summary: Reference population databases are crucial for variant and gene interpretation, aiding in identifying pathogenic variants and discovering new disease-gene relationships. The Genome Aggregation Database is currently the largest and most widely utilized collection of population variation, accessible through the gnomAD browser for rapid and intuitive variant analysis.
Review
Ophthalmology
Nina Schneider et al.
Summary: Inherited retinal diseases (IRDs) are a complex and heterogeneous group of visual impairments caused by pathogenic variants in numerous genes. The understanding of the genotype-phenotype correlations, inheritance patterns, hypomorphic alleles, and modifier genes associated with IRDs is challenging due to their unique characteristics. Advances in next-generation sequencing have facilitated the identification of novel IRD-related genes and variants. The Global Retinal Inherited Disease (GRID) dataset provides valuable information on the frequencies and complexities of pathogenic variants among 194 genes.
PROGRESS IN RETINAL AND EYE RESEARCH
(2022)
Article
Multidisciplinary Sciences
William A. McFadden et al.
Summary: Intrinsically disordered proteins (IDPs) and intrinsically disordered regions (IDRs) are flexible peptides that can adopt multiple conformations, providing unique advantages for biological processes. The 'idpr' package in R integrates computational tools for the analysis of IDPs, facilitating the analysis of these important yet under-characterized proteins.
Editorial Material
Biochemistry & Molecular Biology
Simona Maria Monti et al.
Review
Biochemistry & Molecular Biology
Rakesh Trivedi et al.
Summary: This review discusses different aspects of disordered proteins and protein regions, as well as the experimental and computational methods used to characterize them. Additionally, the role of disordered proteins in diseases and their potential as drug targets are explored.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Geriatrics & Gerontology
Akshatha Ganne et al.
Summary: Protein structure is determined by amino acid sequence and post-translational modifications. Non-structured proteins, known as intrinsically disordered proteins (IDPs), are overrepresented in protein aggregates associated with neurodegenerative diseases. Machine learning models can predict the properties determining the enrichment of IDPs in neuropathic aggregates.
FRONTIERS IN AGING NEUROSCIENCE
(2022)
Article
Biology
Aayush Gupta et al.
Summary: This study developed generative autoencoders that can learn from short molecular dynamics simulations and generate full conformational ensembles of intrinsically disordered proteins.
COMMUNICATIONS BIOLOGY
(2022)
Review
Biophysics
Orkid Coskuner-Weber et al.
Summary: Many neurodegenerative diseases are associated with intrinsically disordered proteins or proteins with intrinsically disordered regions. These proteins, including amyloid-β, tau, α-synuclein, CHCHD2, CHCHD10, and G-protein coupled receptors, are being evaluated as potential drug targets in pharmaceutical-based treatments. This article focuses on the neurobiology of these proteins, their involvement in various neurodegenerative diseases, and the design strategies for treating these diseases. It also highlights the need for new analysis methods for G-protein coupled receptors due to their intrinsically disordered regions.
BIOPHYSICAL REVIEWS
(2022)
Article
Biology
Sheetal Uppal et al.
Summary: RPE65 recognizes and binds to membranes through specific mechanisms, including interaction between residues 107-125 and membranes, as well as palmitoylation at C112. The study reveals the membrane recognition mechanism of RPE65 and the impact of the alpha-helical structure on its function, while also suggesting a novel role for cysteine palmitoylation.
LIFE SCIENCE ALLIANCE
(2022)
Article
Ophthalmology
Alexander Tanner et al.
Summary: This study explores the parameters of haploinsufficiency and missense variants prevalence in inherited retinal disease (IRD) genes. It finds that a minority of IRD-associated genes appear to be haploinsufficient and observes over-representation of spliceosome pathways. Variants found in genes with over-representation of missense variants should be interpreted with caution when interpreting genetic tests.
BMJ OPEN OPHTHALMOLOGY
(2022)
Article
Medicine, General & Internal
Satoru Fujiwara
Summary: This study characterizes the dynamical behavior of disease-related proteins and provides insights into the functional and behavioral aberrations caused by disease-related mutations. The findings contribute to a better understanding of the pathogenesis of familial cardiomyopathy and Parkinson's disease, highlighting the importance of protein dynamics in disease mechanisms.
MEDICINA-LITHUANIA
(2022)
Article
Nanoscience & Nanotechnology
Noriyuki Kodera et al.
Summary: High-speed atomic force microscopy imaging can provide a semiquantitative, realistic description of the dynamic structure of intrinsically disordered proteins, which dynamically sample a multitude of conformational states, making their structural analysis difficult.
NATURE NANOTECHNOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Anna Laddach et al.
Summary: This study establishes a statistical framework for quantifying variant enrichment in protein structures, identifying molecular features that distinguish pathogenic from population variants, and providing a rationale for therapeutic targeting of variant-enriched proteins and domains. The created ZoomVar database allows programmatically annotating missense variants with protein structural information and calculating variant enrichment in different regions.
Article
Biophysics
Ryan J. Emenecker et al.
Summary: Consensus disorder scores integrate multiple independent predictors to provide a per-residue value reflecting the number of tools predicting disorder.
BIOPHYSICAL JOURNAL
(2021)
Article
Biochemistry & Molecular Biology
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH
(2018)
Review
Ophthalmology
Koen Willekens et al.
OPHTHALMIC RESEARCH
(2016)
Article
Multidisciplinary Sciences
Jerome Burgi et al.
Review
Biochemistry & Molecular Biology
Rebecca B. Berlow et al.
Review
Chemistry, Multidisciplinary
Robin van der Lee et al.
Article
Cell Biology
Robin van der Lee et al.
Article
Biotechnology & Applied Microbiology
Xiujuan Wang et al.
NATURE BIOTECHNOLOGY
(2012)
Article
Biochemical Research Methods
Vladimir Vacic et al.
PLOS COMPUTATIONAL BIOLOGY
(2012)
