Results 31 to 40 of about 474 (120)

Visual deficits in a mouse model of Batten disease are the result of optic nerve degeneration and loss of dorsal lateral geniculate thalamic neurons

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, Andrew W. Custer, Jared W. Benedict, Noreen A. Alexander, Evan Kingsley, Howard J. Federoff, Jonathan D. Cooper, David A. Pearce   +7 more
doaj   +1 more source

Lysosomal PPT1‐insufficiency is a common pathogenic link between INCL and JNCL

The FASEB Journal, 2020
Neuronal Ceroid Lipofuscinoses (NCLs), also known as Batten disease, constitute a group of the most common inherited childhood neurodegenerative lysosomal storage disorders (LSDs). Even though mutations in >13 different genes cause various NCLs, at the cellular level, all the NCLs ...
Abhilash Puthuvelvippel Appu, Maria Bagh, Tamal Sadhukhan, Avisek Mondal, Anil B. Mukherjee   +4 more
openaire   +1 more source

A knock-in reporter mouse model for Batten disease reveals predominant expression of Cln3 in visual, limbic and subcortical motor structures

Neurobiology of Disease, 2011
Juvenile neuronal ceroid lipofuscinosis (JNCL) or Batten disease is an autosomal recessive neurodegenerative disorder of children caused by mutation in CLN3.
Song-Lin Ding, Luis Tecedor, Colleen S. Stein, Beverly L. Davidson   +3 more
doaj   +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, Luis Tecedor, Colleen S Stein, Mark A Stamnes, Beverly L Davidson   +4 more
doaj   +1 more source

Molecular mechanisms of the juvenile form of Batten disease: important role of MAPK signaling pathways (ERK1/ERK2, JNK and p38) in pathogenesis of the malady

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, Dmitry G. Shpakovski, Anna D. Chernysheva, George V. Shpakovski   +3 more
doaj   +1 more source

Epilepsy in Juvenile Neuronal Ceroid Lipofuscinosis

Pediatric Neurology Briefs, 2000
The clinical characteristics of epilepsy and optimal antiepileptic drug therapy were surveyed in 60 patients (mean age 16 years, range 5-33) with juvenile neuronal ceroid lipofuscinosis (JNCL), followed at the University of Helsinki, Finland.
J Gordon Millichap
doaj   +1 more source

Phenotypes of Juvenile Batten Disease

Pediatric Neurology Briefs, 1999
The phenotypes of 10 Finnish juvenile neuronal ceroid lipofuscinosis (JNCL; late-onset Batten disease) patients were correlated with the genotypes in a study at Helsinki University, Finland; and the Rayne Institute, University College, London, UK.
J Gordon Millichap
doaj   +1 more source

Thalamocortical neuron loss and localized astrocytosis in the Cln3Δex7/8 knock-in mouse model of Batten disease

Neurobiology of Disease, 2005
Juvenile neuronal ceroid lipofuscinosis (JNCL) is the result of mutations in the Cln3 gene. The Cln3 knock-in mouse (Cln3Δex7/8) reproduces the most common Cln3 mutation and we have now characterized the CNS of these mice at 12 months of age.
Charlie C. Pontikis, Susan L. Cotman, Marcy E. MacDonald, Jonathan D. Cooper   +3 more
doaj   +1 more source

Alterations in EGF-Endocytosis, Lysosomal Enzyme Transport and Maturation of Cathepsins in Juvenile Neuronal Ceroid Lipofuscinosis Fibroblasts

International Clinical Neuroscience Journal, 2020
Background: Juvenile neuronal ceroid lipofuscinosis (JNCL), one of the most frequent forms of the NCL storage diseases, is known to be caused by loss-of-function mutations in ceroid-lipofuscinosis neuronal protein 3 (CLN3), but its cell function has not ...
Jaime Cárcel-Trullols
doaj   +1 more source

Metabolic Causes of Epileptic Encephalopathy

Epilepsy Research and Treatment, Volume 2013, Issue 1, 2013., 2013
Epileptic encephalopathy can be induced by inborn metabolic defects that may be rare individually but in aggregate represent a substantial clinical portion of child neurology. These may present with various epilepsy phenotypes including refractory neonatal seizures, early myoclonic encephalopathy, early infantile epileptic encephalopathy, infantile ...
Joe Yuezhou Yu, Phillip L. Pearl, Giangennaro Coppola   +2 more
wiley   +1 more source