Neuronal Ceroid-Lipofuscinoses
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.
|
31283065 |
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 |
Biomarker
|
disease |
BEFREE |
CLN2 disease is a genetic disorder caused by dysfunction of the lysosomal enzyme tripeptidyl peptidase 1 (TPP1) that belongs to the neuronal ceroid lipofuscinoses (NCL) and leads to epilepsy, dementia, and death in young persons.
|
30771299 |
2019 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Neuronal ceroid lipofuscinoses type I and type II (NCL1 and NCL2) also known as Batten disease are the commonly observed neurodegenerative lysosomal storage disorder caused by mutations in the PPT1 and TPP1 genes respectively.
|
30541466 |
2018 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Interestingly, TPP1 activity in serum only consisted of a neutral form, no acidic form, and was not deficient in any NCL 2 patient.
|
29599076 |
2018 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
Biomarker
|
disease |
BEFREE |
Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses.
|
29631617 |
2018 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mutations of the CLN2 gene encoding a soluble lysosomal enzyme, tripeptidyl peptidase 1 (TPP1), cause late infantile NCL/CLN2 disease.
|
28464005 |
2017 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
Biomarker
|
disease |
BEFREE |
Extraneuronal pathology in a canine model of CLN2 neuronal ceroid lipofuscinosis after intracerebroventricular gene therapy that delays neurological disease progression.
|
28079862 |
2017 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
Biomarker
|
disease |
BEFREE |
Gemfibrozil has shown efficacy in an animal model of NCL known as CLN2 (late infantile classic juvenile) and has been shown to be safe for lowering lipids in children.
|
28623936 |
2017 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
|
26795593 |
2016 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs.
|
26143525 |
2015 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.
|
26075876 |
2015 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Late-infantile NCL is caused by mutations in the lysosomal protease tripeptidyl peptidase 1 (TPP1).
|
25540127 |
2015 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here we report successful reprograming of patient fibroblasts into induced pluripotent stem cells (iPSCs) for the two most common NCL subtypes: classic late-infantile NCL, caused by TPP1(CLN2) mutation, and juvenile NCL, caused by CLN3 mutation.
|
24271013 |
2014 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).
|
23418007 |
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 |
CausalMutation
|
disease |
CLINVAR |
Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.
|
23266810 |
2013 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
Biomarker
|
disease |
BEFREE |
Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.
|
23266810 |
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 |
CausalMutation
|
disease |
CLINVAR |
Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients.
|
22832778 |
2013 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.
|
23266810 |
2013 |
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
Biomarker
|
disease |
BEFREE |
The most heterogeneous subtype of neuronal ceroid lipofuscinosis comprises the late infantile variant, which, in addition to the classic CLN2, was reported in children with CLN5, CLN6, CLN7/MFSD8, and CLN8 genes.
|
22964447 |
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 |
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 |