A phosphoinositide signalling pathway mediates rapid lysosomal repair

JX Tan, T Finkel - Nature, 2022 - nature.com
Lysosomal dysfunction has been increasingly linked to disease and normal ageing,.
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 …

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 …

CLN3 is required for the clearance of glycerophosphodiesters from lysosomes

NN Laqtom, W Dong, UN Medoh, AL Cangelosi… - Nature, 2022 - nature.com
Lysosomes have many roles, including degrading macromolecules and signalling to the
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 …

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 …

Activation of PPARα exhibits therapeutic efficacy in a mouse model of juvenile neuronal ceroid lipofuscinosis

M Jana, D Dutta, J Poddar, K Pahan - Journal of Neuroscience, 2023 - Soc Neuroscience
Juvenile neuronal ceroid lipofuscinosis (JNCL) is a fatal inherited neurodegenerative
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 …

A human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor–RPE interface

C Tang, J Han, S Dalvi, K Manian, L Winschel… - Communications …, 2021 - nature.com
Mutations in CLN3 lead to photoreceptor cell loss in CLN3 disease, a lysosomal storage
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 …