Huntington disease: new insights into molecular pathogenesis and therapeutic opportunities

SJ Tabrizi, MD Flower, CA Ross, EJ Wild - Nature Reviews Neurology, 2020 - nature.com
Huntington disease (HD) is a neurodegenerative disease caused by CAG repeat expansion
in the huntingtin gene (HTT) and involves a complex web of pathogenic mechanisms …

Mass spectrometry‐based protein–protein interaction networks for the study of human diseases

AL Richards, M Eckhardt, NJ Krogan - Molecular systems biology, 2021 - embopress.org
A better understanding of the molecular mechanisms underlying disease is key for
expediting the development of novel therapeutic interventions. Disease mechanisms are …

Nuclear pore complexes—a doorway to neural injury in neurodegeneration

AN Coyne, JD Rothstein - Nature Reviews Neurology, 2022 - nature.com
The genetic underpinnings and end-stage pathological hallmarks of neurodegenerative
diseases are increasingly well defined, but the cellular pathophysiology of disease initiation …

Mutant huntingtin disrupts the nuclear pore complex

JC Grima, JG Daigle, N Arbez, KC Cunningham… - Neuron, 2017 - cell.com
Huntington's disease (HD) is caused by an expanded CAG repeat in the Huntingtin (HTT)
gene. The mechanism (s) by which mutant HTT (mHTT) causes disease is unclear …

Protein interaction networks in neurodegenerative diseases: From physiological function to aggregation

G Calabrese, C Molzahn, T Mayor - Journal of Biological Chemistry, 2022 - ASBMB
The accumulation of protein inclusions is linked to many neurodegenerative diseases that
typically develop in older individuals, due to a combination of genetic and environmental …

A Greek tragedy: the growing complexity of Alzheimer amyloid precursor protein proteolysis

RJ Andrew, KAB Kellett, G Thinakaran… - Journal of Biological …, 2016 - ASBMB
Proteolysis of the amyloid precursor protein (APP) liberates various fragments including the
proposed initiator of Alzheimer disease-associated dysfunctions, amyloid-β. However …

Inferring interaction networks from multi-omics data

JS Hawe, FJ Theis, M Heinig - Frontiers in genetics, 2019 - frontiersin.org
A major goal in systems biology is a comprehensive description of the entirety of all complex
interactions between different types of biomolecules—also referred to as the interactome …

Characterizing protein–protein interactions using mass spectrometry: challenges and opportunities

AH Smits, M Vermeulen - Trends in biotechnology, 2016 - cell.com
During the past decades, mass spectrometry (MS)-based proteomics has become an
important technology to identify protein–protein interactions (PPIs). The application of a …

Interactome mapping provides a network of neurodegenerative disease proteins and uncovers widespread protein aggregation in affected brains

C Haenig, N Atias, AK Taylor, A Mazza, MH Schaefer… - Cell reports, 2020 - cell.com
Interactome maps are valuable resources to elucidate protein function and disease
mechanisms. Here, we report on an interactome map that focuses on neurodegenerative …

Mutations in disordered regions can cause disease by creating dileucine motifs

K Meyer, M Kirchner, B Uyar, JY Cheng, G Russo… - Cell, 2018 - cell.com
Many disease-causing missense mutations affect intrinsically disordered regions (IDRs) of
proteins, but the molecular mechanism of their pathogenicity is enigmatic. Here, we employ …