|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
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 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Two novel CLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis.
|
11241479 |
2001 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Progressive conduction defects and cardiac death in late infantile neuronal ceroid lipofuscinosis.
|
22221116 |
2012 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A novel CLN2/TPP1 mutation in a patient with late infantile neuronal ceroid lipofuscinosis.
|
26032578 |
2015 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
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 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
New mutations in the neuronal ceroid lipofuscinosis genes.
|
11589012 |
2001 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
There are 35 missense mutations among 68 different mutations in the TPP1 gene, which encodes tripeptidyl peptidase I (TPPI), a lysosomal aminopeptidase associated with classic late-infantile neuronal ceroid lipofuscinosis (CLN2 disease).
|
20340139 |
2010 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
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 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The human CLN2 protein/tripeptidyl-peptidase I is a serine protease that autoactivates at acidic pH.
|
11054422 |
2001 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
There are 35 missense mutations among 68 different mutations in the TPP1 gene, which encodes tripeptidyl peptidase I (TPPI), a lysosomal aminopeptidase associated with classic late-infantile neuronal ceroid lipofuscinosis (CLN2 disease).
|
20340139 |
2010 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
|
19201763 |
2009 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.
|
12376936 |
2002 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
There are 35 missense mutations among 68 different mutations in the TPP1 gene, which encodes tripeptidyl peptidase I (TPPI), a lysosomal aminopeptidase associated with classic late-infantile neuronal ceroid lipofuscinosis (CLN2 disease).
|
20340139 |
2010 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Prenatal testing for late infantile neuronal ceroid lipofuscinosis.
|
10665500 |
2000 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
|
22612257 |
2012 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
|
23374165 |
2013 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder.
|
10330339 |
1999 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
|
21990111 |
2012 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis.
|
9295267 |
1997 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
[Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation].
|
12698559 |
2003 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Crystal structure and autoactivation pathway of the precursor form of human tripeptidyl-peptidase 1, the enzyme deficient in late infantile ceroid lipofuscinosis.
|
19038967 |
2009 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Two novel CLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis.
|
11241479 |
2001 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients.
|
19793312 |
2009 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Neurological deterioration in late infantile neuronal ceroid lipofuscinosis.
|
17679671 |
2007 |