Results 71 to 80 of about 4,199 (162)
Acta Neuropathologica Communications, 2017 The neuronal ceroid lipofuscinoses (NCLs or Batten disease) are a group of inherited, fatal neurodegenerative disorders of childhood. In these disorders, glial (microglial and astrocyte) activation typically occurs early in disease progression and ...
Lotta Parviainen +12 more
doaj +1 more source
Clinical Genetics, Volume 108, Issue 1, Page 14-21, July 2025.Inherited retinal diseases (IRDs) are a leading cause of vision loss, with an incidence of 1:2000. In this study of 50 Turkish patients, next‐generation sequencing identified pathogenic variants in 58%, including novel variants in six genes. This research enhances genetic understanding and supports improved diagnostics and treatments for IRDs ...
Cuneyd Yavas +7 more
wiley +1 more source
Spectrum of Mutations in the Batten Disease Gene, CLN3
The American Journal of Human Genetics, 1997 Batten disease (juvenile-onset neuronal ceroid lipofuscinosis [JNCL]) is an autosomal recessive condition characterized by accumulation of lipopigments (lipofuscin and ceroid) in neurons and other cell types. The Batten disease gene, CLN3, was recently isolated, and four disease-causing mutations were identified, including a 1.02-kb deletion that is ...
Munroe, Patricia B. +10 more
openaire +2 more sources
Neurobiology of Disease, 2017 The neuronal ceroid lipofuscinoses are a group of recessively inherited, childhood-onset neurodegenerative conditions. Several forms are caused by mutations in genes encoding putative lysosomal membrane proteins.
Alamin Mohammed +4 more
doaj +1 more source
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
FRET-Assisted Determination of CLN3 Membrane Topology
PLoS ONE, 2014 Juvenile neuronal ceroid lipofuscinosis (JNCL) is caused by mutations in the CLN3 gene, which encodes for a putative lysosomal transmembrane protein with thus far undescribed structure and function. Here we investigate the membrane topology of human CLN3 protein with a combination of advanced molecular cloning, spectroscopy, and in silico computation ...
Ratajczak, Ewa +3 more
openaire +5 more sources
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
Neurobiology of Disease, 2006 Juvenile neuronal ceroid lipofuscinosis (JNCL) is an autosomal recessive disorder of childhood caused by mutations in CLN3. Although visual deterioration is typically the first clinical sign to manifest in affected children, loss of Cln3 in a mouse model
Jill M. Weimer +7 more
doaj +1 more source
Targeted Disruption of the Cln3 Gene Provides a Mouse Model for Batten Disease
Neurobiology of Disease, 1999 Batten disease, a degenerative neurological disorder with juvenile onset, is the most common form of the neuronal ceroid lipofuscinoses. Mutations in the CLN3 gene cause Batten disease.
Hannah M. Mitchison +13 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