Type I Mucolipidosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We report a type 1 sialidosis patient with a novel deletion mutation in NEU1 and compared the phenotypes within different ethnicities.
|
31371146 |
2020 |
Type I Mucolipidosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Type 1 sialidosis (OMIM#256550) is a rare autosomal recessive lysosomal storage disease caused by a mutation in the NEU1 (OMIM * 608272) gene.
|
30635863 |
2019 |
Type I Mucolipidosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this study, we used Sendai virus reprogramming to generate an induced pluripotent stem cell (iPSC) line carrying the A544G mutation combined with the 667-679 deletion of the NEU1 gene from a sialidosis patient.
|
29414417 |
2018 |
Type I Mucolipidosis
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Aberrant NEU1 activity is associated with various pathologies including lysosomal storage disorder sialidosis, autoimmune diseases and the malignancy and metastasis of cancer cells.
|
28130415 |
2017 |
Type I Mucolipidosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Sialidosis Type 1 with a Novel Mutation in the Neuraminidase-1 (NEU1) Gene.
|
28138907 |
2017 |
Type I Mucolipidosis
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Type I Mucolipidosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
We sequenced the entire coding regions of GLB1 and NEU1 in GM1 gangliosidosis and sialidosis patient cells, respectively.
|
25600812 |
2015 |
Type I Mucolipidosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
Our observation indicates that sialidosis should be suspected and the NEU1 gene analyzed in patients with isolated action myoclonus presenting in adulthood in the absence of other typical clinical and laboratory findings.
|
24808020 |
2014 |
Type I Mucolipidosis
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus.
|
24808020 |
2014 |
Type I Mucolipidosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in NEU1 gene are causative of sialidosis (MIM 256550), a severe lysosomal storage disorder showing autosomal recessive mode of inheritance.
|
25153125 |
2014 |
Type I Mucolipidosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here, we report the molecular defects underlying sialidosis (mutations in sialidase; gene NEU1), galactosialidosis (mutations in cathepsin A; gene PPGB) and GM1 gangliosidosis (mutations in β-galactosidase; gene GLB1) in Portuguese patients.
|
21214877 |
2012 |
Type I Mucolipidosis
|
0.700 |
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 |
Type I Mucolipidosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
Sialidosis (NEU1 deficiency) and galactosialidosis (combined NEU1 and β-gal deficiency, secondary to a primary defect of PPCA) belong to the glycoprotein storage diseases, whereas GM1-gangliosidosis (β-gal deficiency) is a glycosphingolipid storage disease.
|
21118106 |
2010 |
Type I Mucolipidosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Similar results were obtained with a human NEU1 N-glycosylation mutant identified in a sialidosis patient.
|
19714866 |
2009 |
Type I Mucolipidosis
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
The specific N-glycosylated proteins detected on MAM lectin blotting as well as the granular lysosomal fluorescence due to an avidin-FITC/biotinylated MAM lectin conjugate in sialidosis and galactosialidosis fibroblasts disappeared in parallel with the restoration of the intracellular NEU1 activity after transfection of the recombinant NEU1 fused to HA tag sequence and the wild-type PPCA cDNA as well as administration of the recombinant PPCA precursor protein.
|
16361247 |
2006 |
Type I Mucolipidosis
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
First report of two Taiwanese siblings with sialidosis type I: a 10-year follow-up study.
|
16712870 |
2006 |
Type I Mucolipidosis
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
In this study we tested the therapeutic efficacy of baculovirus (BV) expressed mouse neuraminidase (Neu1) in sialidosis mice.
|
15979029 |
2005 |
Type I Mucolipidosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We report here a case of sialidosis due to novel mutations in NEU1 presenting as severe nonimmune hydrops fetalis.
|
15908988 |
2005 |
Type I Mucolipidosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
Sialidosis is an autosomal recessive disease resulting from a deficiency of lysosomal sialidase.
|
14695530 |
2004 |
Type I Mucolipidosis
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genomic DNA from four unrelated sialidosis patients was screened for mutations within the sialidase gene NEU1.Five novel mutations were identified.
|
14695530 |
2004 |
Type I Mucolipidosis
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in the sialidase gene NEU1, located on chromosome 6p21.3, result in autosomal recessive disorder, sialidosis, which is characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides.
|
14517945 |
2003 |
Type I Mucolipidosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Sialidosis (McKusick 256550) is an autosomal recessive disorder resulting from mutations in the NEU gene, located in 6p21.3, which leads to deficiency of alpha-N-acetyl neuraminidase (sialidase) activity, causing an accumulation of its substrates, oligosaccharides, in the lysosomes of various organs and tissues and an increased presence in urine and other organic fluids.
|
12522793 |
2003 |
Type I Mucolipidosis
|
0.700 |
PosttranslationalModification
|
disease |
BEFREE |
Molecular pathology of NEU1 gene in sialidosis.
|
14517945 |
2003 |
Type I Mucolipidosis
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Identification of a CTL4/Neu1 fusion transcript in a sialidosis patient.
|
12067718 |
2002 |
Type I Mucolipidosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mice nullizygous at the Neu1 locus develop clinical abnormalities reminiscent of early-onset sialidosis in children, including severe nephropathy, progressive edema, splenomegaly, kyphosis and urinary excretion of sialylated oligosaccharides.
|
12023988 |
2002 |