Membrane trafficking in health and disease

R Yarwood, J Hellicar… - Disease models & …, 2020 - journals.biologists.com
Membrane trafficking pathways are essential for the viability and growth of cells, and play a
major role in the interaction of cells with their environment. In this At a Glance article and …

Lessons from ten years of genome‐wide association studies of asthma

CT Vicente, JA Revez… - Clinical & translational …, 2017 - Wiley Online Library
Twenty‐five genome‐wide association studies (GWAS) of asthma were published between
2007 and 2016, the largest with a sample size of 157242 individuals. Across these studies …

Genetic analysis of right heart structure and function in 40,000 people

JP Pirruccello, P Di Achille, V Nauffal, M Nekoui… - Nature …, 2022 - nature.com
Congenital heart diseases often involve maldevelopment of the evolutionarily recent right
heart chamber. To gain insight into right heart structure and function, we fine-tuned deep …

An AAGAB-to-CCDC32 handover mechanism controls the assembly of the AP2 adaptor complex

C Wan, H Puscher, Y Ouyang, J Wu, Y Tian, S Li… - Proceedings of the …, 2024 - pnas.org
Vesicular transport relies on multimeric trafficking complexes to capture cargo and drive
vesicle budding and fusion. Faithful assembly of the trafficking complexes is essential to …

Adaptor protein complex interaction map in Arabidopsis identifies P34 as a common stability regulator

P Wang, W Siao, X Zhao, D Arora, R Wang, D Eeckhout… - Nature plants, 2023 - nature.com
Adaptor protein (AP) complexes are evolutionarily conserved vesicle transport regulators
that recruit coat proteins, membrane cargoes and coated vesicle accessory proteins. As in …

Coatopathies: genetic disorders of protein coats

EC Dell'Angelica, JS Bonifacino - Annual review of cell and …, 2019 - annualreviews.org
Protein coats are supramolecular complexes that assemble on the cytosolic face of
membranes to promote cargo sorting and transport carrier formation in the endomembrane …

Hereditary palmoplantar keratodermas. Part I. Non‐syndromic palmoplantar keratodermas: classification, clinical and genetic features

L Guerra, M Castori, B Didona… - Journal of the …, 2018 - Wiley Online Library
The term palmoplantar keratoderma (PPK) indicates any form of persistent thickening of the
epidermis of palms and soles and includes genetic as well as acquired conditions. We …

Hereditary palmoplantar keratoderma “clinical and genetic differential diagnosis”

T Sakiyama, A Kubo - The Journal of dermatology, 2016 - Wiley Online Library
Hereditary palmoplantar keratoderma (PPK) is a heterogeneous group of disorders
characterized by hyperkeratosis of the palm and the sole skin. Hereditary PPK are divided …

AAGAB controls AP2 adaptor assembly in clathrin-mediated endocytosis

DR Gulbranson, L Crisman, MS Lee, Y Ouyang… - Developmental cell, 2019 - cell.com
Multimeric adaptors are broadly involved in vesicle-mediated membrane trafficking. AP2
adaptor, in particular, plays a central role in clathrin-mediated endocytosis (CME) by …

On-treatment biomarkers can improve prediction of response to neoadjuvant chemotherapy in breast cancer

RJ Bownes, AK Turnbull, C Martinez-Perez… - Breast Cancer …, 2019 - Springer
Background Neoadjuvant chemotherapy is increasingly given preoperatively to shrink
breast tumours prior to surgery. This approach also provides the opportunity to study the …