A phosphoinositide signalling pathway mediates rapid lysosomal repair
Lysosomal dysfunction has been increasingly linked to disease and normal ageing,.
Lysosomal membrane permeabilization (LMP), a hallmark of lysosome-related diseases …
Lysosomal membrane permeabilization (LMP), a hallmark of lysosome-related diseases …
Impaired autophagy: The collateral damage of lysosomal storage disorders
R Myerowitz, R Puertollano, N Raben - EBioMedicine, 2021 - thelancet.com
Lysosomal storage disorders (LSDs), which number over fifty, are monogenically inherited
and caused by mutations in genes encoding proteins that are involved in lysosomal function …
and caused by mutations in genes encoding proteins that are involved in lysosomal function …
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 …
CLN3 is required for the clearance of glycerophosphodiesters from lysosomes
Lysosomes have many roles, including degrading macromolecules and signalling to the
nucleus. Lysosomal dysfunction occurs in various human conditions, such as common …
nucleus. Lysosomal dysfunction occurs in various human conditions, such as common …
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 …
The mechanism of Atg15-mediated membrane disruption in autophagy
Y Kagohashi, M Sasaki, AI May, T Kawamata… - Journal of Cell …, 2023 - rupress.org
Autophagy is a lysosomal/vacuolar delivery system that degrades cytoplasmic material.
During autophagy, autophagosomes deliver cellular components to the vacuole, resulting in …
During autophagy, autophagosomes deliver cellular components to the vacuole, resulting in …
Activation of PPARα exhibits therapeutic efficacy in a mouse model of juvenile neuronal ceroid lipofuscinosis
Juvenile neuronal ceroid lipofuscinosis (JNCL) is a fatal inherited neurodegenerative
disease of children that occurs because of defective function of the lysosomal membrane …
disease of children that occurs because of defective function of the lysosomal membrane …
CRISPR and iPSCs: recent developments and future perspectives in neurodegenerative disease modelling, research, and therapeutics
T Sen, RP Thummer - Neurotoxicity Research, 2022 - Springer
Neurodegenerative diseases are prominent causes of pain, suffering, and death worldwide.
Traditional approaches modelling neurodegenerative diseases are deficient, and therefore …
Traditional approaches modelling neurodegenerative diseases are deficient, and therefore …
A human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor–RPE interface
Mutations in CLN3 lead to photoreceptor cell loss in CLN3 disease, a lysosomal storage
disorder characterized by childhood-onset vision loss, neurological impairment, and …
disorder characterized by childhood-onset vision loss, neurological impairment, and …
Retinal phenotype of patients with isolated retinal degeneration due to CLN3 pathogenic variants in a French retinitis pigmentosa cohort
VM Smirnov, M Nassisi, CS Hernandez… - JAMA …, 2021 - jamanetwork.com
Importance Biallelic variants inCLN3lead to a spectrum of diseases, ranging from severe
neurodegeneration with retinal involvement (juvenile neuronal ceroid lipofuscinosis) to …
neurodegeneration with retinal involvement (juvenile neuronal ceroid lipofuscinosis) to …