Neurodegenerative Disorders
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0.100 |
GeneticVariation
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group |
BEFREE |
Mutations in tripeptidyl peptidase 1 (<i>TPP1</i>) have been associated with late infantile neuronal ceroid lipofuscinosis (NCL), a neurodegenerative disorder.
|
28546289 |
2017 |
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Tripeptidyl peptidase 1 (TPP1) deficiency causes CLN2 disease, late infantile (or classic late infantile neuronal ceroid lipofuscinosis), a paediatric neurodegenerative disease of autosomal recessive inheritance.
|
23587805 |
2013 |
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Late infantile neuronal ceroid lipofuscinosis (LINCL), one form of Batten's disease is a progressive neurodegenerative disorder resulting from a CLN2 gene mutation.
|
24015292 |
2013 |
Neurodegenerative Disorders
|
0.100 |
Biomarker
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group |
BEFREE |
Tripeptidyl aminopeptidase I (TPPI) is a crucial lysosomal enzyme that is deficient in the fatal neurodegenerative disorder called classic late-infantile neuronal ceroid lipofuscinosis (LINCL).
|
20689811 |
2010 |
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
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 |
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The classic late infantile neuronal ceroid lipofuscinosis (LINCL, CLN2) is a fatal neurodegenerative disorder that results from mutations in a gene encoding a lysosomal proteinase, known as CLN2 protease (CLN2p) or tripeptidyl peptidase I (TPP-I).
|
11589010 |
2001 |
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Classical late-infantile neuronal ceroid lipofuscinosis (LINCL), a progressive and fatal neurodegenerative disease of childhood, results from mutations in a gene (CLN2) that encodes a protein with significant sequence similarity to prokaryotic pepstatin-insensitive acid proteases.
|
10428067 |
1999 |
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
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 |
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in the CLN2 gene result in classical late infantile neuronal ceroid lipofuscinosis (LINCL), a fatal childhood neurodegenerative disease.
|
9653647 |
1998 |
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
The neuronal ceroid lipofuscinoses (NCL) are a relatively frequent group of progressive neurodegenerative disorders in children with similar, but not identical, clinical and morphological features, entailing different clinical groups, some of which have been found to represent different genetic entities, ie, infantile (INCL) or CLN1, late-infantile (LINCL) or CLN2, juvenile (JNCL) or CLN3, and a Finnish variant of LINCL or CLN5.
|
8969009 |
1996 |