Genome interpretation using in silico predictors of variant impact

P Katsonis, K Wilhelm, A Williams, O Lichtarge - Human genetics, 2022 - Springer
Estimating the effects of variants found in disease driver genes opens the door to
personalized therapeutic opportunities. Clinical associations and laboratory experiments …

The pathobiology of perturbed mutant huntingtin protein–protein interactions in Huntington's disease

EE Wanker, A Ast, F Schindler, P Trepte… - Journal of …, 2019 - Wiley Online Library
Mutations are at the root of many human diseases. Still, we largely do not exactly
understand how they trigger pathogenesis. One, more recent, hypothesis has been that they …

Comprehensive characterization of protein–protein interactions perturbed by disease mutations

F Cheng, J Zhao, Y Wang, W Lu, Z Liu, Y Zhou… - Nature …, 2021 - nature.com
Technological and computational advances in genomics and interactomics have made it
possible to identify how disease mutations perturb protein–protein interaction (PPI) networks …

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

V Salpietro, CL Dixon, H Guo, OD Bello… - Nature …, 2019 - nature.com
AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations
of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role …

In‐depth and 3‐dimensional exploration of the budding yeast phosphoproteome

MC Lanz, K Yugandhar, S Gupta, EJ Sanford… - EMBO …, 2021 - embopress.org
Phosphorylation is one of the most dynamic and widespread post‐translational
modifications regulating virtually every aspect of eukaryotic cell biology. Here, we assemble …

Evolution of resilience in protein interactomes across the tree of life

M Zitnik, R Sosič, MW Feldman… - Proceedings of the …, 2019 - National Acad Sciences
Phenotype robustness to environmental fluctuations is a common biological phenomenon.
Although most phenotypes involve multiple proteins that interact with each other, the basic …

[HTML][HTML] Genetic architecture of autism spectrum disorder: Lessons from large-scale genomic studies

L Choi, JY An - Neuroscience & Biobehavioral Reviews, 2021 - Elsevier
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a strong genetic
component. Recently developed genomic technologies, including microarray and next …

BraInMap elucidates the macromolecular connectivity landscape of mammalian brain

R Pourhaghighi, PEA Ash, S Phanse, F Goebels… - Cell systems, 2020 - cell.com
Connectivity webs mediate the unique biology of the mammalian brain. Yet, while cell circuit
maps are increasingly available, knowledge of their underlying molecular networks remains …

Brain organoids as model systems for genetic neurodevelopmental disorders

S Baldassari, I Musante, M Iacomino, F Zara… - Frontiers in Cell and …, 2020 - frontiersin.org
Neurodevelopmental disorders (NDDs) are a group of disorders in which the development
of the central nervous system (CNS) is disturbed, resulting in different neurological and …

Neuron-specific protein network mapping of autism risk genes identifies shared biological mechanisms and disease-relevant pathologies

N Murtaza, AA Cheng, CO Brown, DP Meka, S Hong… - Cell Reports, 2022 - cell.com
There are hundreds of risk genes associated with autism spectrum disorder (ASD), but
signaling networks at the protein level remain unexplored. We use neuron-specific proximity …