Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Classical late-infantile neuronal ceroid lipofuscinosis (LINCL; CLN2) is an inherited neurodegenerative disorder of childhood characterized by seizures, loss of vision, and progressive motor and mental deterioration.
|
10737126 |
1998 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Classic late-infantile NCL (Jansky-Bielschowsky disease) is caused by mutations in a gene encoding a pepstatin-insensitive lysosomal peptidase (CLN2 on chromosome 11p15), and juvenile-onset NCL (Batten disease) is caused by mutations in a gene encoding a 438-amino-acid membrane protein (CLN3 on chromosome 16p12) of unknown function.
|
10446748 |
1999 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These data provide new insights into TPP1 function and represent a valuable resource for constructing improved TPP1 variants for treatment of late infantile neuronal ceroid lipofuscinosis.
|
19038967 |
2009 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Structural organization and sequence of CLN2, the defective gene in classical late infantile neuronal ceroid lipofuscinosis.
|
9653647 |
1998 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We identified a novel nonsense CLN2 mutation (Q509X) in three Italian children with classical late-infantile neuronal ceroid lipofuscinosis (LINCL) from two unrelated families.
|
10862088 |
2000 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Late infantile neuronal ceroid lipofuscinosis (Jansky-Bielchowsky disease) is a rare disease caused by mutations in the CLN2 gene.
|
22832778 |
2013 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in tripeptidyl-peptidase I (TPP I) underlie the classic late-infantile form of neuronal ceroid lipofuscinoses (CLN2), the most common neurodegenerative disorders of childhood.
|
16895480 |
2006 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
As previous reports show that the majority of the TPP1 mutations in NCL resulted in reduction or loss of enzyme activity, we suggest that <i>Dicyostelium</i> could be used as a model system in which to test new reagents that could affect the activity of the protein and ameliorate the disease.
|
28546289 |
2017 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Late-infantile neuronal ceroid lipofuscinosis (LINCL), an autosomal recessively inherited lysosomal storage disorder characterized by autofluorescent inclusions and rapid progression of neurodegeneration, is due to CLN2 gene mutations.
|
11339651 |
2001 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
CLN2 disease is a hereditary neurodegenerative disorder resulting from mutations in CLN2, which encodes the soluble lysosomal enzyme tripeptidyl peptidase-1 (TPP1).
|
24938720 |
2014 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Association of the R447H mutation with a delayed onset form of LINCL in two separate families raised the question of whether R447H CLN2 retains residual activity.
|
11462245 |
2001 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Spectrum of ocular manifestations in CLN2-associated batten (Jansky-Bielschowsky) disease correlate with advancing age and deteriorating neurological function.
|
24015292 |
2013 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Most of the patients, 9 of 11 (81.8%), were CLN2 type (late-infantile neuronal ceroid lipofuscinosis or Jansky-Bielschowsky), and 2 patients were the atypical type.
|
17690061 |
2007 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Analysis of archival specimens indicates that several specimens previously classified as LINCL have enzyme activity and thus disease is unlikely to arise from mutations in CLN2.
|
10428067 |
1999 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, the assay could be easily combined with a TPP1 enzyme assay (for CLN2 disease) and can be potentially multiplexed with a large panel of additional lysosomal enzyme assays by MS/MS for newborn screening and postscreening analysis.
|
30204428 |
2018 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene.
|
10356316 |
1999 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
28 disease-causing missense mutations are analyzed in the light of the TPP1 structure providing insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis.
|
19038966 |
2009 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Successful PGD for late infantile neuronal ceroid lipofuscinosis achieved by combined chromosome and TPP1 gene analysis.
|
23768618 |
2013 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The late-infantile Batten disease or late-infantile neuronal ceroid lipofuscinosis (LINCL) is an autosomal recessive lysosomal storage disorder caused by mutations in the Cln2 gene leading to deficiency of lysosomal enzyme tripeptidyl peptidase 1 (TPP1).
|
30928643 |
2019 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, and is characterized by language delay, seizures, rapid cognitive and motor decline, blindness, and early death.
|
28335910 |
2017 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We update on the spectrum of TPP1 variants associated with CLN2 disease, comprising 131 unique variants from 389 individuals (717 alleles) collected from the literature review, public databases, and laboratory communications.
|
31283065 |
2019 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We have collected 122 late-infantile neuronal ceroid lipofuscinosis (LINCL, CLN2) and 191 juvenile NCL (JNCL, CLN3) cases, diagnosed on the basis of age-at-onset, clinical symptomatology, and pathological findings and representing the most common forms of NCL in the United States, and Europe.
|
9377079 |
1997 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) is a rare neurodegenerative disease caused by mutations in the Cln2 gene that leads to deficiency or loss of function of the tripeptidyl peptidase 1 (TPP1) enzyme.
|
28199020 |
2017 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Further analysis of all reported TPP1 mutations revealed that the LINCL group had a significantly higher frequency of truncating and invariant splice-site mutations than the JNCL group.
|
31059981 |
2019 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare, progressive, fatal neurodegenerative pediatric disorder resulting from deficiencies of the lysosomal enzyme tripeptidyl peptidase 1 that are caused by mutations in TPP1.
|
31814335 |
2019 |