Cellular functions of WASP family proteins at a glance

O Alekhina, E Burstein… - Journal of cell …, 2017 - journals.biologists.com
ABSTRACT Proteins of the Wiskott–Aldrich syndrome protein (WASP) family function as
nucleation-promoting factors for the ubiquitously expressed Arp2/3 complex, which drives …

Endosomal receptor trafficking: Retromer and beyond

J Wang, A Fedoseienko, B Chen, E Burstein, D Jia… - Traffic, 2018 - Wiley Online Library
The tubular endolysosomal network is a quality control system that ensures the proper
delivery of internalized receptors to specific subcellular destinations in order to maintain …

[HTML][HTML] CCC-and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL

P Bartuzi, DD Billadeau, R Favier, S Rong… - Nature …, 2016 - nature.com
The low-density lipoprotein receptor (LDLR) plays a pivotal role in clearing atherogenic
circulating low-density lipoprotein (LDL) cholesterol. Here we show that the …

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 …

Endosomal retrieval of cargo: retromer is not alone

KE McNally, PJ Cullen - Trends in cell biology, 2018 - cell.com
Endosomes are major protein sorting stations in cells. Endosomally localised multi-protein
complexes sort integral proteins, including signaling receptors, nutrient transporters …

Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology

C Tesson, J Koht, G Stevanin - Human genetics, 2015 - Springer
Hereditary spastic paraplegias (HSP) are rare neurodegenerative diseases sharing the
degeneration of the corticospinal tracts as the main pathological characteristic. They are …

Endosome-to-TGN trafficking: organelle-vesicle and organelle-organelle interactions

Y Tu, L Zhao, DD Billadeau, D Jia - Frontiers in cell and …, 2020 - frontiersin.org
Retrograde transport from endosomes to the trans-Golgi network (TGN) diverts proteins and
lipids away from lysosomal degradation. It is essential for maintaining cellular homeostasis …

WASP family proteins: Molecular mechanisms and implications in human disease

DA Kramer, HK Piper, B Chen - European journal of cell biology, 2022 - Elsevier
Abstract Proteins of the Wiskott-Aldrich syndrome protein (WASP) family play a central role
in regulating actin cytoskeletal dynamics in a wide range of cellular processes. Genetic …

Cerebellar hypoplasia: differential diagnosis and diagnostic approach

A Poretti, E Boltshauser… - American Journal of …, 2014 - Wiley Online Library
Cerebellar hypoplasia (CH) refers to a cerebellum with a reduced volume, and is a common,
but non‐specific neuroimaging finding. The etiological spectrum of CH is wide and includes …

Helper T cell immunity in humans with inherited CD4 deficiency

A Guérin, M Moncada-Vélez, K Jackson… - Journal of Experimental …, 2024 - rupress.org
CD4+ T cells are vital for host defense and immune regulation. However, the fundamental
role of CD4 itself remains enigmatic. We report seven patients aged 5–61 years from five …