NEU1, neuraminidase 1, 4758

N. diseases: 207; N. variants: 28
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4282398
Disease: Sialidase deficiency
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
CUI: C4282398
Disease: Sialidase deficiency
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
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		0.700 AlteredExpression disease BEFREE Identification of a CTL4/Neu1 fusion transcript in a sialidosis patient. 12067718 2002
CUI: C0268226
Disease: Type I Mucolipidosis
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
CUI: C0268226
Disease: Type I Mucolipidosis
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
CUI: C0268226
Disease: Type I Mucolipidosis
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
CUI: C0268226
Disease: Type I Mucolipidosis
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
CUI: C0268226
Disease: Type I Mucolipidosis
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
CUI: C0268226
Disease: Type I Mucolipidosis
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
CUI: C0268226
Disease: Type I Mucolipidosis
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
CUI: C0268226
Disease: Type I Mucolipidosis
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
CUI: C0268226
Disease: Type I Mucolipidosis
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
CUI: C0268226
Disease: Type I Mucolipidosis
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
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		0.700 Biomarker disease BEFREE For lysosomal sialidase in humans, the primary genetic deficiency results in an autosomal recessive disease, sialidosis, associated with tissue accumulation and urinary excretion of sialylated oligosaccharides and glycolipids. 9054950 1997
CUI: C0268226
Disease: Type I Mucolipidosis
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
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		0.700 GeneticVariation disease BEFREE We have identified a homozygous transversion in the last intron (IVSE +1 G>C) in neu1 of a sialidosis patient. 11470272 2001
CUI: C0268226
Disease: Type I Mucolipidosis
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
CUI: C0268226
Disease: Type I Mucolipidosis
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
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		0.700 Biomarker disease BEFREE Sialidosis is an autosomal recessive disease resulting from a deficiency of lysosomal sialidase. 14695530 2004
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		0.700 GeneticVariation disease BEFREE We previously cloned the human lysosomal sialidase cDNA and characterized mutations in human sialidosis patients. 9384611 1998
CUI: C0268226
Disease: Type I Mucolipidosis
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
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		0.700 Biomarker disease BEFREE Carrier detection of sialidosis with partial beta-galactosidase deficiency by the assay of lysosomal sialidase in lymphocytes. 6703657 1984
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		0.700 Biomarker disease BEFREE Sialidosis is an autosomal recessive disease caused by the genetic deficiency of lysosomal sialidase, which catalyzes the catabolism of sialoglycoconjugates. 11279074 2001
CUI: C0268226
Disease: Type I Mucolipidosis
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
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		0.700 Biomarker disease BEFREE Sialidosis is an autosomal recessive disease caused by the genetic deficiency of lysosomal sialidase, which catalyzes the hydrolysis of sialoglycoconjugates. 10767332 2000