Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have found that in the most common juvenile form of NCL (CLN3 disease or JNCL) this glial response is less pronounced in both mouse models and human autopsy material, with the morphological transformation of both astrocytes and microglia severely attenuated or delayed.
|
29041969 |
2017 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Juvenile neuronal ceroid lipofuscinosis (JNCL or Batten disease) caused by mutations in the <i>CLN3</i> gene is the most prevalent inherited neurodegenerative disease in childhood resulting in widespread central nervous system dysfunction and premature death.
|
29135436 |
2017 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
MGD |
Our results show that CLN3 deficiency alters APCs, which can be a major contributor to the autoimmune response in JNCL.
|
27101989 |
2016 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Remote Assessment of Cognitive Function in Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease): A Pilot Study of Feasibility and Reliability.
|
26336202 |
2016 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Juvenile neuronal ceroid lipofuscinosis (JNCL) is a fatal lysosomal storage disease caused by CLN3 mutations.
|
27629717 |
2016 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study, independent lines of induced pluripotent stem cells (iPSCs) were generated from two patients with molecularly confirmed mutations in CLN3, the gene mutated in JNCL.
|
27400765 |
2016 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The eyes and vision of nine heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with classical CLN3 mutations were examined using the following methods: clinical examination, visual acuity, ophthalmoscopy, optical coherence tomography (macular thickness and peripapillary retinal nerve fibre layer measurement [RNFL]), fundus autofluorescence measurement, infrared imaging, and full-field and multifocal electroretinogram.
|
25338278 |
2015 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Juvenile neuronal-ceroid-lipofuscinosis (JNCL) is a lysosomal storage disease caused by mutations in CLN3.
|
26360874 |
2015 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Immunosuppressive Treatment for Retinal Degeneration in Juvenile Neuronal Ceroid Lipofuscinosis (Juvenile Batten Disease).
|
24547931 |
2015 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
To gain an improved understanding of the pathways regulating defective autophagy specifically in juvenile neuronal ceroid lipofuscinosis (JNCL or Batten disease), a neurodegenerative disease of childhood, we developed and piloted a GFP-microtubule-associated protein 1 light chain 3 (GFP-LC3) screening assay to identify, in an unbiased fashion, genotype-sensitive small molecule autophagy modifiers, employing a JNCL neuronal cell model bearing the most common disease mutation in CLN3.
|
25878248 |
2015 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Partial correction of the CNS lysosomal storage defect in a mouse model of juvenile neuronal ceroid lipofuscinosis by neonatal CNS administration of an adeno-associated virus serotype rh.10 vector expressing the human CLN3 gene.
|
24372003 |
2014 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The Batten disease gene CLN3 confers resistance to endoplasmic reticulum stress induced by tunicamycin.
|
24699413 |
2014 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Juvenile Batten disease (juvenile neuronal ceroid lipofuscinosis, JNCL) is a devastating neurodegenerative disease caused by mutations in CLN3, a protein of undefined function.
|
24792215 |
2014 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Juvenile neuronal ceroid lipofuscinosis (JNCL; Batten disease) is a rare, inherited, fatal lysosomal storage childhood disorder.
|
23628560 |
2013 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Although CLN3-related oxidative and mitochondrial stresses have been studied in BD, the pathologic mechanism of the disease is not clearly understood.
|
23524239 |
2013 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.
|
23539563 |
2013 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Juvenile neuronal ceroid lipofuscinosis (JNCL) is characterized by severe visual impairment with onset around age 4-8 years, and a developmental course that includes blindness, epilepsy, speech problems, dementia, motor coordination problems, and emotional reactions.
|
23470553 |
2013 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here we describe a patient with juvenile neuronal ceroid lipofuscinosis who has a novel c.1135_1138delCTGT mutation in CLN3.
|
23877479 |
2013 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Juvenile neuronal ceroid lipofuscinosis (JNCL) is a lysosomal storage disease caused by an autosomal recessive mutation in CLN3.
|
23919525 |
2013 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
|
23374165 |
2013 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.
|
23539563 |
2013 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Since the CLN3 gene is suggested to be involved in the cell cycle in a yeast model, we investigated the cell cycle profile and its regulatory factors in lymphoblast cells from Batten disease patients.
|
23458879 |
2013 |