Flupirtine derivatives as potential treatment for the neuronal ceroid lipofuscinoses
Annals of Clinical and Translational Neurology, 2018 Objective Neuronal Ceroid Lipofuscinoses (NCL) are fatal inherited neurodegenerative diseases with established neuronal cell death and increased ceramide levels in brain, hence, a need for disease‐modifying drug candidates, with potential to enhance ...
Joelle Makoukji +7 more
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Biology Direct, 2018 Background Mutations in the CLN3 gene lead to so far an incurable juvenile-onset neuronal ceroid lipofuscinosis (JNCL) or Batten disease that starts at the age of 4–6 years with a progressive retinopathy leading to blindness. Motor disturbances, epilepsy
Elena K. Shematorova +3 more
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Phenotypic characterization of a mouse model of juvenile neuronal ceroid lipofuscinosis
Neurobiology of Disease, 2008 Juvenile neuronal ceroid lipofuscinosis (JNCL) is an autosomal recessively inherited neurodegenerative disorder that results from mutations in the CLN3 gene.
Martin L. Katz +3 more
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Modulating membrane fluidity corrects Batten disease phenotypes in vitro and in vivo
Neurobiology of Disease, 2018 The neuronal ceroid lipofuscinoses are a class of inherited neurodegenerative diseases characterized by the accumulation of autofluorescent storage material. The most common neuronal ceroid lipofuscinosis has juvenile onset with rapid onset blindness and
Mark L. Schultz +5 more
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Developmental Comparison of Ceramide in Wild-Type and Cln3Δex7/8 Mouse Brains and Sera
Frontiers in Neurology, 2019 CLN3 disease is a neurodevelopmental disease leading to early visual failure, motor decline, and death. CLN3 pathogenesis has been linked to dysregulation of ceramide, a key intracellular messenger impacting various biological functions.
Sally El-Sitt +6 more
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CLN3 deficient cells display defects in the ARF1-Cdc42 pathway and actin-dependent events.
PLoS ONE, 2014 Juvenile Batten disease (juvenile neuronal ceroid lipofuscinosis, JNCL) is a devastating neurodegenerative disease caused by mutations in CLN3, a protein of undefined function.
Mark L Schultz +4 more
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Searching for novel biomarkers using a mouse model of CLN3-Batten disease.
PLoS ONE, 2018 CLN3-Batten disease is a rare, autosomal recessive disorder involving seizures, visual, motor and cognitive decline, and premature death. The Cln3Δex7/8 mouse model recapitulates several phenotypic characteristics of the most common 1.02kb disease ...
Derek Timm +8 more
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The CLN3 gene and protein: What we know
Molecular Genetics & Genomic Medicine, 2019 Background One of the most important steps taken by Beyond Batten Disease Foundation in our quest to cure juvenile Batten (CLN3) disease is to understand the State of the Science. We believe that a strong understanding of where we are in our experimental
Myriam Mirza +11 more
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Early recognition of CLN3 disease facilitated by visual electrophysiology and multimodal imaging. [PDF]
Doc Ophthalmol, 2023 Sakti DH +9 more
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Treatment of non-epileptic episodes of anxious, fearful behavior in adolescent juvenile neuronal ceroid lipofuscinosis (CLN3 disease). [PDF]
Front Neurol, 2023 Ostergaard JR.
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