Results 81 to 90 of about 2,322 (154)
Traffic, Volume 26, Issue 7-9, July/September 2025.FGF signaling regulates lysosomal homeostasis in RCS chondrocytes by inducing TFEB/TFE3 nuclear translocation and activation. This promotes the expression of lysosomal genes and mannose 6‐phosphate receptors, enhancing lysosome biogenesis and lysosomal hydrolases delivery.
Laura Cinque +5 more
wiley +1 more source
Epilepsia, Volume 66, Issue 6, Page 1773-1792, June 2025.Abstract The cerebellum, a subcortical structure, is traditionally linked to sensorimotor integration and coordination, although its role in cognition and affective behavior, as well as epilepsy, is increasingly recognized. Cerebellar dysfunction in patients with epilepsy can result from genetic disorders, antiseizure medications, seizures, and seizure‐
Christopher Elder +4 more
wiley +1 more source
Acta Ophthalmologica, Volume 103, Issue 3, Page 327-338, May 2025.Abstract Purpose This study aimed to characterize clinical and genetic findings in a Swedish cohort with inherited retinal disease (IRD), identify predictors for achieving a molecular diagnosis and evaluate the effects of increased genetic testing over time.
Karl De Geer +4 more
wiley +1 more source
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
doaj +1 more source
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
doaj +1 more source
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
doaj +1 more source
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
doaj +1 more source
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
doaj +1 more source
Embracing the future: Neonatal screening for epileptic syndromes
Epilepsia, Volume 66, Issue 6, Page 1843-1853, June 2025.
Rima Nabbout, Mathieu Kuchenbuch
wiley +1 more source
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
doaj +1 more source