Rab GTPase function in endosome and lysosome biogenesis

L Langemeyer, F Fröhlich, C Ungermann - Trends in cell biology, 2018 - cell.com
Eukaryotic cells maintain a highly organized endolysosomal system. This system regulates
the protein and lipid content of the plasma membrane, it participates in the intracellular …

[HTML][HTML] Lysosomes: fusion and function

JP Luzio, PR Pryor, NA Bright - Nature reviews Molecular cell biology, 2007 - nature.com
Lysosomes are dynamic organelles that receive and degrade macromolecules from the
secretory, endocytic, autophagic and phagocytic membrane-trafficking pathways. Live-cell …

The road to lysosome‐related organelles: Insights from Hermansky‐Pudlak syndrome and other rare diseases

SL Bowman, J Bi‐Karchin, L Le, MS Marks - Traffic, 2019 - Wiley Online Library
Lysosome‐related organelles (LROs) comprise a diverse group of cell type‐specific,
membrane‐bound subcellular organelles that derive at least in part from the endolysosomal …

[HTML][HTML] Melanosomes—dark organelles enlighten endosomal membrane transport

G Raposo, MS Marks - Nature reviews Molecular cell biology, 2007 - nature.com
Melanosomes are tissue-specific lysosome-related organelles of pigment cells in which
melanins are synthesized and stored. Analyses of the trafficking and fate of melanosomal …

[HTML][HTML] The retinal pigmentation pathway in human albinism: Not so black and white

R Bakker, EL Wagstaff, CC Kruijt, E Emri… - Progress in retinal and …, 2022 - Elsevier
Albinism is a pigment disorder affecting eye, skin and/or hair. Patients usually have
decreased melanin in affected tissues and suffer from severe visual abnormalities, including …

ARF1 compartments direct cargo flow via maturation into recycling endosomes

A Stockhammer, P Adarska, V Natalia, A Heuhsen… - Nature Cell …, 2024 - nature.com
Cellular membrane homoeostasis is maintained via a tightly regulated membrane and cargo
flow between organelles of the endocytic and secretory pathways. Adaptor protein …

Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome

S Ammann, A Schulz, I Krägeloh-Mann… - Blood, The Journal …, 2016 - ashpublications.org
Genetic disorders affecting biogenesis and transport of lysosome-related organelles are
heterogeneous diseases frequently associated with albinism. We studied a patient with …

Lysosome-related organelles as functional adaptations of the endolysosomal system

C Delevoye, MS Marks, G Raposo - Current opinion in cell biology, 2019 - Elsevier
Unique functions of specialised cells such as those of the immune and haemostasis
systems, skin, blood vessels, lung, and bone require specialised compartments, collectively …

Neurodevelopmental disorders: mechanisms and boundary definitions from genomes, interactomes and proteomes

AP Mullin, A Gokhale, A Moreno-De-Luca… - Translational …, 2013 - nature.com
Neurodevelopmental disorders such as intellectual disability, autism spectrum disorder and
schizophrenia lack precise boundaries in their clinical definitions, epidemiology, genetics …

[HTML][HTML] Cell-specific ATP7A transport sustains copper-dependent tyrosinase activity in melanosomes

SRG Setty, D Tenza, EV Sviderskaya, DC Bennett… - Nature, 2008 - nature.com
Copper is a cofactor for many cellular enzymes and transporters. It can be loaded onto
secreted and endomembrane cuproproteins by translocation from the cytosol into …