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 …
of a new era because of diagnostic and therapeutic advances relevant to this group of …
[HTML][HTML] Autophagy, lipophagy and lysosomal lipid storage disorders
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 …
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 …
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 …
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
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 …
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 …
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 …
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 …
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 …
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 …
autophagy, apoptosis and necrosis, however, a little is known about its impact in …