[HTML][HTML] Lysosome dysfunction as a cause of neurodegenerative diseases: Lessons from frontotemporal dementia and amyotrophic lateral sclerosis
Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are fatal
neurodegenerative disorders that are thought to exist on a clinical and pathological …
neurodegenerative disorders that are thought to exist on a clinical and pathological …
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 (NCL), a group of rare neurodegenerative disorders. These …
The neuronal ceroid-lipofuscinoses (Batten disease)
SE Mole, A Schulz - Rosenberg's Molecular and Genetic Basis of …, 2025 - Elsevier
The neuronal ceroid-lipofuscinoses (NCLs), collectively also called Batten disease,
constitute one of the most common groups of inherited neurodegenerative disorders in …
constitute one of the most common groups of inherited neurodegenerative disorders in …
The genetic basis of phenotypic heterogeneity in the neuronal ceroid lipofuscinoses
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative
disorders that affect children and adults. They share some similar clinical features and the …
disorders that affect children and adults. They share some similar clinical features and the …
Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype
C Soldati, I Lopez‐Fabuel, LG Wanderlingh… - EMBO molecular …, 2021 - embopress.org
Batten diseases (BDs) are a group of lysosomal storage disorders characterized by seizure,
visual loss, and cognitive and motor deterioration. We discovered increased levels of …
visual loss, and cognitive and motor deterioration. We discovered increased levels of …
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 …
storage diseases that together represent the most common cause of dementia in children …
Polymer-based drug delivery systems under investigation for enzyme replacement and other therapies of lysosomal storage disorders
Lysosomes play a central role in cellular homeostasis and alterations in this compartment
associate with many diseases. The most studied example is that of lysosomal storage …
associate with many diseases. The most studied example is that of lysosomal storage …
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms
Homozygous mutations in the progranulin gene (GRN) are associated with neuronal ceroid
lipofuscinosis 11 (CLN11), a rare lysosomal-storage disorder characterized by cerebellar …
lipofuscinosis 11 (CLN11), a rare lysosomal-storage disorder characterized by cerebellar …
Slowing late infantile Batten disease by direct brain parenchymal administration of a rh.10 adeno-associated virus expressing CLN2
D Sondhi, SM Kaminsky, NR Hackett… - Science translational …, 2020 - science.org
Late infantile Batten disease (CLN2 disease) is an autosomal recessive, neurodegenerative
lysosomal storage disease caused by mutations in the CLN2 gene encoding tripeptidyl …
lysosomal storage disease caused by mutations in the CLN2 gene encoding tripeptidyl …
[HTML][HTML] Pathomechanisms in the neuronal ceroid lipofuscinoses
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative
lysosomal storage disorders (LSDs), traditionally grouped together based on shared clinical …
lysosomal storage disorders (LSDs), traditionally grouped together based on shared clinical …