An overview of the role of lipofuscin in age-related neurodegeneration

A Moreno-García, A Kun, O Calero, M Medina… - Frontiers in …, 2018 - frontiersin.org
Despite aging being by far the greatest risk factor for highly prevalent neurodegenerative
disorders, the molecular underpinnings of age-related brain changes are still not well …

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 …

Current and emerging treatment strategies for neuronal ceroid lipofuscinoses

A Kohlschütter, A Schulz, U Bartsch, S Storch - CNS drugs, 2019 - Springer
The neuronal ceroid lipofuscinoses comprise a group of neurodegenerative lysosomal
storage disorders caused by mutations in at least 13 different genes and primarily affect the …

The genetic basis of phenotypic heterogeneity in the neuronal ceroid lipofuscinoses

E Gardner, SE Mole - Frontiers in Neurology, 2021 - frontiersin.org
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 …

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 …

[HTML][HTML] Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses

ES Butz, U Chandrachud, SE Mole… - Biochimica et Biophysica …, 2020 - Elsevier
The neuronal ceroid lipofuscinoses (NCL) are a group of disorders defined by shared
clinical and pathological features, including seizures and progressive decline in vision …

Recent insight into the genetic basis, clinical features, and diagnostic methods for neuronal ceroid lipofuscinosis

K Kaminiów, S Kozak, J Paprocka - International Journal of Molecular …, 2022 - mdpi.com
Neuronal ceroid lipofuscinoses (NCLs) are a group of rare, inherited, neurodegenerative
lysosomal storage disorders that affect children and adults. They are traditionally grouped …

Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features

SF Berkovic, KL Oliver, L Canafoglia, P Krieger… - Brain, 2019 - academic.oup.com
Kufs disease is the major adult form of neuronal ceroid lipofuscinosis, but is rare and difficult
to diagnose. Diagnosis was traditionally dependent on the demonstration of characteristic …

With or without you: co-chaperones mediate health and disease by modifying chaperone function and protein triage

S Altinok, R Sanchez-Hodge, M Stewart, K Smith… - Cells, 2021 - mdpi.com
Heat shock proteins (HSPs) are a family of molecular chaperones that regulate essential
protein refolding and triage decisions to maintain protein homeostasis. Numerous co …

An overview of ATP synthase, inhibitors, and their toxicity

AR Althaher, M Alwahsh - Heliyon, 2023 - cell.com
Mitochondrial complex V (ATP synthase) is a remarkable molecular motor crucial in
generating ATP and sustaining mitochondrial function. Its importance in cellular metabolism …