Assessing the integrity of auditory sensory memory processing in CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): an auditory evoked potential study of the duration-evoked mismatch negativity (MMN) [PDF]
Journal of Neurodevelopmental DisordersBackground We interrogated auditory sensory memory capabilities in individuals with CLN3 disease (juvenile neuronal ceroid lipofuscinosis), specifically for the feature of “duration” processing.
Tufikameni Brima +9 more
doaj +2 more sources
Cln3 function is linked to osmoregulation in a Dictyostelium model of Batten disease
Biochimica Et Biophysica Acta - Molecular Basis of Disease, 2018 Mutations in CLN3 cause a juvenile form of neuronal ceroid lipofuscinosis (NCL), commonly known as Batten disease. Currently, there is no cure for NCL and the mechanisms underlying the disease are not well understood. In the social amoeba Dictyostelium discoideum, the CLN3 homolog, Cln3, localizes predominantly to the contractile vacuole (CV) system ...
Sabateeshan Mathavarajah +1 more
exaly +3 more sources
Reversible synaptic deficits in early-stage batten disease [PDF]
Journal of Translational MedicineBackground Juvenile neuronal ceroid lipofuscinosis (JNCL, Batten Disease) is a childhood-onset, neurodegenerative, lysosomal storage disorder caused by mutations in the lysosomal gene CLN3. Progressive cognitive decline is characteristic clinical feature,
Masood Ahmad Wani +4 more
doaj +2 more sources
Juvenile CLN3 disease is a lysosomal cholesterol storage disorder: similarities with Niemann-Pick type C disease [PDF]
EBioMedicine, 2023 Rajesh K Soni +2 more
exaly +2 more sources
Parental experiences of having a child with CLN3 disease (juvenile Batten disease) and how these experiences relate to family resilience [PDF]
Child: Care, Health and Development, 2022 Niklas Darin +2 more
exaly +2 more sources
Glycerophosphoinositol is Elevated in Blood Samples From pigs, Mice, and CLN3-Affected Individuals
Biomarker Insights, 2022 Introduction: CLN3 Batten disease is a rare pediatric neurodegenerative lysosomal disorder caused by biallelic disease-associated variants in CLN3. Despite decades of intense research, specific biofluid biomarkers of disease status have not been reported,
Jon J Brudvig +9 more
doaj +1 more source
An iPSC-Derived Neuron Model of CLN3 Disease Facilitates Small Molecule Phenotypic Screening [PDF]
ACS Pharmacology and Translational Science, 2020 Nihar Kinarivala +2 more
exaly +2 more sources
Drug-induced hyperthermia with rhabdomyolysis in CLN3 disease
European Journal of Paediatric Neurology, 2022 CLN3 disease (MIM# 204200), the most prevalent of the neuronal ceroid lipofuscinoses (NCL), is an autosomal recessive disorder with juvenile onset characterized by blindness, epilepsy, dementia, psychiatric manifestations, and motor deterioration. Problems related to behavior, emotions and thought are among the main features.
A, Savvidou +5 more
openaire +2 more sources
Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype [PDF]
EMBO Molecular Medicine, 2021 Abstract 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 globotriaosylceramide (Gb3) in cellular and murine models of CLN3 and CLN7 diseases and used fluorescent‐conjugated bacterial ...
Soldati, Chiara +22 more
openaire +10 more sources
Molecular Genetics & Genomic Medicine, 2021 Background Mutations in CLN3 cause Batten disease, however non‐syndromic CLN3 disease, characterized by retinal‐specific degeneration, has been also described.
Xiao Zhang +10 more
doaj +1 more source