Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function

P Saftig, J Klumperman - Nature reviews Molecular cell biology, 2009 - nature.com
Lysosomes are the primary catabolic compartments of eukaryotic cells. They degrade
extracellular material that has been internalized by endocytosis and intracellular …

Lysosomal functions and dysfunctions: Molecular and cellular mechanisms underlying Gaucher disease and its association with Parkinson disease

M Horowitz, H Braunstein, A Zimran… - Advanced Drug Delivery …, 2022 - Elsevier
Lysosomes have a critical role in maintaining normal cellular homeostasis mediated by their
involvement in secretion, plasma membrane repair, cell signaling and energy metabolism …

Mannose-6-phosphate pathway: a review on its role in lysosomal function and dysfunction

MF Coutinho, MJ Prata, S Alves - Molecular genetics and metabolism, 2012 - Elsevier
Lysosomal hydrolases are synthesized in the rough endoplasmic reticulum and specifically
transported through the Golgi apparatus to the trans-Golgi network, from which transport …

Glycosphingolipids—nature, function, and pharmacological modulation

T Wennekes, RJ van den Berg, RG Boot… - Angewandte Chemie …, 2009 - Wiley Online Library
The discovery of the glycosphingolipids is generally attributed to Johan LW Thudichum, who
in 1884 published on the chemical composition of the brain. In his studies he isolated …

The role of the podocyte in albumin filtration

PT Brinkkoetter, C Ising, T Benzing - Nature Reviews Nephrology, 2013 - nature.com
In the past decade, our understanding of the role of podocytes in the function of the
glomerular filtration barrier, and of the role of podocyte injury in the pathogenesis of …

The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations

H Poupětová, J Ledvinová, L Berná… - Journal of Inherited …, 2010 - Wiley Online Library
The aim of this retrospective study was to determine the prevalence of lysosomal storage
disorders (LSDs) in the Czech Republic. The data on cases diagnosed between 1975 and …

[HTML][HTML] Gaucher disease: insights from a rare Mendelian disorder

E Sidransky - Discovery medicine, 2012 - ncbi.nlm.nih.gov
It has become increasingly clear that “simple” recessive disorders provide unique insight
into the complexities of common diseases. For years, research on Gaucher disease, a rare …

Soluble FLT1 binds lipid microdomains in podocytes to control cell morphology and glomerular barrier function

J Jin, K Sison, C Li, R Tian, M Wnuk, HK Sung… - Cell, 2012 - cell.com
Vascular endothelial growth factor and its receptors, FLK1/KDR and FLT1, are key
regulators of angiogenesis. Unlike FLK1/KDR, the role of FLT1 has remained elusive. FLT1 …

Glucocerebrosidase is shaking up the synucleinopathies

M Siebert, E Sidransky, W Westbroek - Brain, 2014 - academic.oup.com
The lysosomal enzyme glucocerebrosidase, encoded by the glucocerebrosidase gene, is
involved in the breakdown of glucocerebroside into glucose and ceramide. Lysosomal build …

LIMP-2 expression is critical for β-glucocerebrosidase activity and α-synuclein clearance

M Rothaug, F Zunke, JR Mazzulli… - Proceedings of the …, 2014 - National Acad Sciences
Mutations within the lysosomal enzyme β-glucocerebrosidase (GC) result in Gaucher
disease and represent a major risk factor for developing Parkinson disease (PD). Loss of GC …