Sialidase deficiency
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization.
|
25153125 |
2014 |
Sialidase deficiency
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
Autopsy findings of a patient, with sialidosis type I phenotype carrying V217M/G243R mutations in the lysosomal sialidase gene and biochemically defined isolated sialidase deficiency, who died of intractable lymphoma at the age of 32 years, are described.
|
19415310 |
2010 |
Sialidase deficiency
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression.
|
14695530 |
2004 |
Sialidase deficiency
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression.
|
14695530 |
2004 |
Sialidase deficiency
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes.
|
11829139 |
2002 |
Sialidase deficiency
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes.
|
11829139 |
2002 |
Sialidase deficiency
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal alpha-N-acetyl-neuraminidase (sialidase) gene.
|
11702224 |
2001 |
Sialidase deficiency
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex.
|
11279074 |
2001 |
Sialidase deficiency
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex.
|
10767332 |
2000 |
Sialidase deficiency
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Molecular and structural studies of Japanese patients with sialidosis type 1.
|
10944856 |
2000 |
Sialidase deficiency
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex.
|
10767332 |
2000 |
Sialidase deficiency
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis.
|
11063730 |
2000 |
Sialidase deficiency
|
0.720 |
Biomarker
|
disease |
BEFREE |
Cloning of the cDNA and gene encoding mouse lysosomal sialidase and correction of sialidase deficiency in human sialidosis and mouse SM/J fibroblasts.
|
9384611 |
1998 |
Sialidase deficiency
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis.
|
9054950 |
1997 |
Sialidase deficiency
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis.
|
8985184 |
1996 |
Sialidase deficiency
|
0.720 |
Biomarker
|
disease |
CTD_human |
|
|
|
Sialidase deficiency
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
|
|
|