Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis

SE Mole, G Anderson, HA Band, SF Berkovic… - The Lancet …, 2019 - thelancet.com
Treatment of the neuronal ceroid lipofuscinoses, also known as Batten disease, is at the start
of a new era because of diagnostic and therapeutic advances relevant to this group of …

[HTML][HTML] Autophagy, lipophagy and lysosomal lipid storage disorders

C Ward, N Martinez-Lopez, EG Otten, B Carroll… - … et Biophysica Acta (BBA …, 2016 - Elsevier
Autophagy is a catabolic process with an essential function in the maintenance of cellular
and tissue homeostasis. It is primarily recognised for its role in the degradation of …

[HTML][HTML] Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation

A Calcagni', L Staiano, N Zampelli, N Minopoli… - Nature …, 2023 - nature.com
Batten disease, one of the most devastating types of neurodegenerative lysosomal storage
disorders, is caused by mutations in CLN3. Here, we show that CLN3 is a vesicular …

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

DJ Klionsky, AK Abdel-Aziz, S Abdelfatah, M Abdellatif… - autophagy, 2021 - Taylor & Francis
In 2008, we published the first set of guidelines for standardizing research in autophagy.
Since then, this topic has received increasing attention, and many scientists have entered …

TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann–Pick type C1, and Batten disease

A Scotto Rosato, EK Krogsaeter, D Jaślan… - EMBO molecular …, 2022 - embopress.org
Lysosomes are cell organelles that degrade macromolecules to recycle their components. If
lysosomal degradative function is impaired, eg, due to mutations in lysosomal enzymes or …

Dysregulation of autophagy as a common mechanism in lysosomal storage diseases

E Seranova, KJ Connolly, M Zatyka… - Essays in …, 2017 - portlandpress.com
The lysosome plays a pivotal role between catabolic and anabolic processes as the nexus
for signalling pathways responsive to a variety of factors, such as growth, nutrient …

Lysosomal Ca2+ homeostasis and signaling in health and disease

E Lloyd-Evans, H Waller-Evans - Cold Spring Harbor …, 2020 - cshperspectives.cshlp.org
Calcium (Ca2+) signaling is an essential process in all cells that is maintained by a plethora
of channels, pumps, transporters, receptors, and intracellular Ca2+ sequestering stores …

[HTML][HTML] Lipophagy and lipolysis status in lipid storage and lipid metabolism diseases

A Kloska, M Węsierska, M Malinowska… - International journal of …, 2020 - mdpi.com
This review discusses how lipophagy and cytosolic lipolysis degrade cellular lipids, as well
as how these pathway ys communicate, how they affect lipid metabolism and energy …

[HTML][HTML] Emerging new roles of the lysosome and neuronal ceroid lipofuscinoses

AB Mukherjee, AP Appu, T Sadhukhan… - Molecular …, 2019 - Springer
Abstract Neuronal Ceroid Lipofuscinoses (NCLs), commonly known as Batten disease,
constitute a group of the most prevalent neurodegenerative lysosomal storage disorders …

[HTML][HTML] Calcium alterations signal either to senescence or to autophagy induction in stem cells upon oxidative stress

AV Borodkina, AN Shatrova, PI Deryabin… - Aging (Albany …, 2016 - ncbi.nlm.nih.gov
Abstract Intracellular calcium ([Ca 2+] i) has been reported to play an important role in
autophagy, apoptosis and necrosis, however, a little is known about its impact in …