Neuronal Ceroid-Lipofuscinoses
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
The aberrant expression of ceroid-lipofuscinosis 3 (CLN3) has been reported in a variety of human malignancies.
|
30851897 |
2019 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Juvenile neuronal ceroid lipofuscinosis (JNCL) is a lysosomal storage disease caused by autosomal recessive mutations in ceroid lipofuscinosis 3 (CLN3).
|
29964296 |
2019 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in CLN3 cause a juvenile form of neuronal ceroid lipofuscinosis (NCL).
|
30771446 |
2019 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
Biomarker
|
disease |
BEFREE |
We have conducted proteomic analyses of brain and cerebrospinal fluid (CSF) from mouse models of the most frequently diagnosed NCL diseases: CLN1 (infantile NCL), CLN2 (classical late infantile NCL) and CLN3 (juvenile NCL).
|
31501224 |
2019 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Juvenile neuronal ceroid lipofuscinosis (JNCL), also known as Batten disease, is the most common form of NCLs.
|
30892110 |
2019 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in CLN3 cause a juvenile form of neuronal ceroid lipofuscinosis (NCL), commonly known as Batten disease.
|
30251676 |
2018 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In a whole-exome sequencing study of multiplex Alzheimer's disease (AD) families, we investigated three neuronal ceroid lipofuscinosis genes that have been linked to retromer, an intracellular trafficking pathway associated with AD: ceroid lipofuscinosis 3 (CLN3), ceroid lipofuscinosis 5 (CLN5), and cathepsin D (CTSD).
|
30037983 |
2018 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
Biomarker
|
disease |
BEFREE |
To identify candidate biomarkers, we analyzed autopsy brain and matching CSF samples from controls and three genetically distinct NCLs due to deficiencies in palmitoyl protein thioesterase 1 (CLN1 disease), tripeptidyl peptidase 1 (CLN2 disease), and CLN3 protein (CLN3 disease).
|
28792770 |
2017 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
Biomarker
|
disease |
BEFREE |
To identify molecular modulators of synaptic stability and degeneration, we have used the Cln3 <sup>-/-</sup> mouse model of a juvenile form of NCL.
|
28963550 |
2017 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
Biomarker
|
disease |
MGD |
Antigen presenting cell abnormalities in the Cln3(-/-) mouse model of juvenile neuronal ceroid lipofuscinosis.
|
27101989 |
2016 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway.
|
24271013 |
2014 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway.
|
24271013 |
2014 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Batten disease (BD)--also known as juvenile neuronal ceroid lipofuscinoses-is an inherited neurodegenerative disorder caused by CLN3 gene mutations.
|
23524239 |
2013 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.
|
23539563 |
2013 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The two most prevalent forms of neuronal ceroid lipofuscinosis (NCL) are the juvenile form (Batten disease, CLN3) and late infantile form (Jansky-Bielschowsky disease, CLN2).
|
23263384 |
2013 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Among the fourteen different forms of NCL described to date, CLN1 and CLN10 are marked by granular lipopigments, CLN2 by curvilinear profiles (CVPs), CLN3 by fingerprint profiles (FPPs), and other forms by a combination of these features.
|
23200925 |
2013 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
CLN3 is an endosomal/lysosomal transmembrane protein mutated in classical juvenile onset neuronal ceroid lipofuscinosis, a fatal inherited neurodegenerative lysosomal storage disorder.
|
22261744 |
2012 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
|
21990111 |
2012 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
Biomarker
|
disease |
BEFREE |
Intriguingly, murine cerebellar cells derived from a juvenile NCL model (CLN3) showed enrichment of endogenous KCTD7.
|
22748208 |
2012 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
Biomarker
|
disease |
BEFREE |
A sequence analysis indicated that the CLN3 gene was not likely to be responsible for this case of feline NCL because no deleterious mutation was detected.
|
22627044 |
2012 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
Biomarker
|
disease |
BEFREE |
Although functions are defined for some of the soluble proteins that are defective in NCL (cathepsin D, PPT1, and TPP1), the primary function of the other proteins defective in NCLs (CLN3, CLN5, CLN6, CLN7, and CLN8) remain poorly defined.
|
20680390 |
2011 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.
|
21499717 |
2011 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease).
|
20187884 |
2010 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
Biomarker
|
disease |
MGD |
Osmoregulation of ceroid neuronal lipofuscinosis type 3 in the renal medulla.
|
20219947 |
2010 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A 30-year follow-up of a neuronal ceroid lipofuscinosis patient with mutations in CLN3 and protracted disease course.
|
19135632 |
2009 |