Lysosomal dysfunction in neurodegeneration: emerging concepts and methods

V Udayar, Y Chen, E Sidransky, R Jagasia - Trends in neurosciences, 2022 - cell.com
The understanding of lysosomes has come a long way since the initial discovery of their role
in degrading cellular waste. The lysosome is now recognized as a highly dynamic organelle …

Neuronal ceroid lipofuscinosis: the multifaceted approach to the clinical issues, an overview

A Simonati, RE Williams - Frontiers in neurology, 2022 - frontiersin.org
The main aim of this review is to summarize the current state-of-art in the field of childhood
Neuronal Ceroid Lipofuscinosis (NCL), a group of rare neurodegenerative disorders. These …

Neuronal ceroid lipofuscinosis: potential for targeted therapy

N Specchio, A Ferretti, M Trivisano, N Pietrafusa… - Drugs, 2021 - Springer
Neuronal ceroid lipofuscinosis (NCLs) is a group of inherited neurodegenerative lysosomal
storage diseases that together represent the most common cause of dementia in children …

[HTML][HTML] Management strategies for CLN2 disease

RE Williams, HR Adams, M Blohm, JL Cohen-Pfeffer… - Pediatric …, 2017 - Elsevier
CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive,
pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused …

A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer

L Bajaj, J Sharma, A di Ronza, P Zhang… - The Journal of …, 2020 - Am Soc Clin Investig
Lysosomal enzymes are synthesized in the endoplasmic reticulum (ER) and transferred to
the Golgi complex by interaction with the Batten disease protein CLN8 (ceroid lipofuscinosis …

[HTML][HTML] Pathomechanisms in the neuronal ceroid lipofuscinoses

HR Nelvagal, J Lange, K Takahashi… - … et Biophysica Acta (BBA …, 2020 - Elsevier
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative
lysosomal storage disorders (LSDs), traditionally grouped together based on shared clinical …

Dysregulation of CRMP2 post-translational modifications drive its pathological functions

A Moutal, KA White, A Chefdeville, RN Laufmann… - Molecular …, 2019 - Springer
Collapsin response mediator proteins (CRMPs) are a family of ubiquitously expressed,
homologous phosphoproteins best known for coordinating cytoskeletal formation and …

Functionalized folate-modified graphene oxide/PEI siRNA nanocomplexes for targeted ovarian cancer gene therapy

Y Wang, G Sun, Y Gong, Y Zhang, X Liang… - Nanoscale research …, 2020 - Springer
Gene therapy is emerging as a valid method for the treatment of ovarian cancer, including
small interfering RNA (siRNA). Although it is so powerful, few targeting efficient gene …

Bridging the gap: large animal models in neurodegenerative research

SL Eaton, TM Wishart - Mammalian Genome, 2017 - Springer
The world health organisation has declared neurological disorders as one of the greatest
public health risks in the world today. Yet, despite this growing concern, the mechanisms …

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 …