[HTML][HTML] The Niemann-Pick type diseases–A synopsis of inborn errors in sphingolipid and cholesterol metabolism

FW Pfrieger - Progress in lipid research, 2023 - Elsevier
Disturbances of lipid homeostasis in cells provoke human diseases. The elucidation of the
underlying mechanisms and the development of efficient therapies represent formidable …

Disrupted degradative sorting of TLR7 is associated with human lupus

H Mishra, C Schlack-Leigers, EL Lim, O Thieck… - Science …, 2024 - science.org
Hyperactive TLR7 signaling has long been appreciated as driver of autoimmune disease in
mouse models. Recently, gain-of-function mutations in TLR7 were identified as a monogenic …

[HTML][HTML] Consecutive functions of small GTPases guide HOPS-mediated tethering of late endosomes and lysosomes

A Schleinitz, LA Pöttgen, T Keren-Kaplan, J Pu, P Saftig… - Cell reports, 2023 - cell.com
The transfer of endocytosed cargoes to lysosomes (LYSs) requires HOPS, a multiprotein
complex that tethers late endosomes (LEs) to LYSs before fusion. Many proteins interact …

Inhibition of endolysosome fusion increases exosome secretion

GV Shelke, CD Williamson, M Jarnik… - Journal of Cell …, 2023 - rupress.org
Exosomes are small vesicles that are secreted from cells to dispose of undegraded
materials and mediate intercellular communication. A major source of exosomes is …

[HTML][HTML] Niemann-Pick Disease Type C (NPDC) by Mutation of NPC1 and NPC2: Aberrant Lysosomal Cholesterol Trafficking and Oxidative Stress

D Lee, JH Hong - Antioxidants, 2023 - mdpi.com
Cholesterol trafficking is initiated by the endocytic pathway and transported from
endo/lysosomes to other intracellular organelles. Deficiencies in cholesterol-sensing and …

Loss of the HOPS complex disrupts early-to-late endosome transition, impairs endosomal recycling and induces accumulation of amphisomes

J van der Beek, C de Heus, P Sanza, N Liv… - Molecular Biology of …, 2024 - Am Soc Cell Biol
The multisubunit HOPS tethering complex is a well-established regulator of lysosome fusion
with late endosomes and autophagosomes. However, the role of the HOPS complex in other …

[HTML][HTML] Structure of the endosomal CORVET tethering complex

D Shvarev, C König, N Susan, L Langemeyer… - Nature …, 2024 - nature.com
Cells depend on their endolysosomal system for nutrient uptake and downregulation of
plasma membrane proteins. These processes rely on endosomal maturation, which requires …

[HTML][HTML] BORC complex specific components and Kinesin-1 mediate autophagy evasion by the autophagy-resistant Mycobacterium tuberculosis Beijing strain

J Tunganuntarat, P Kanjanasirirat, T Khumpanied… - Scientific Reports, 2023 - nature.com
Autophagy induction by starvation has been shown to enhance lysosomal delivery to
mycobacterial phagosomes, resulting in the restriction of the Mycobacterium tuberculosis …

The endo-lysosomal regulatory protein BLOC1S1 modulates hepatic lysosomal content and lysosomal lipolysis

K Wu, J Zou, MN Sack - Biochemical and biophysical research …, 2023 - Elsevier
BLOC1S1 is a common component of BLOC and BORC multiprotein complexes which play
distinct roles in endosome and lysosome biology. Recent human mutations in BLOC1S1 …

Endosome dysfunction leads to gain-of-function TLR7 and human lupus

H Mishra, C Schlack-Leigers, EL Lim, O Thieck, T Magg… - bioRxiv, 2023 - biorxiv.org
Hyperactive Toll-like receptor (TLR) 7 signaling has long been appreciated as a driver of
autoimmune disease by breaking tolerance to self-nucleic acids in mouse models …