Associated Papers
Genetic Insights and Clinical Implications of NEU1 Mutations in Sialidosis.
Peng ML et al.
Genes, 2025
40004480 (PubMed )
Supplement: genes-16-00151-s001.zip › Table_S1.xlsx › clinvar_result
Clinical and Structural Characteristics of NEU1 Variants Causing Sialidosis Type 1.
Li Y et al.
Journal of Movement Disorders, 2024
Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature.
Cao LX et al.
World Journal of Clinical Cases, 2021
Sialidosis: A Review of Morphology and Molecular Biology of a Rare Pediatric Disorder.
Khan A et al.
Diagnostics (basel, Switzerland), 2018
Novel mutations in the neuraminidase-1 (NEU1) gene in two patients of sialidosis in India.
Ranganath P et al.
The Indian Journal of Medical Research, 2012
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants
Molecular pathology of NEU1 gene in sialidosis.
Seyrantepe V et al.
Human Mutation, 2003
Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes.
Itoh K et al.
Journal of Human Genetics, 2002
Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal alpha-N-acetyl-neuraminidase (sialidase) gene.
Sergi C et al.
Human Genetics, 2001
Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex.
Lukong KE et al.
The Journal of Biological Chemistry, 2001
Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex.
Lukong KE et al.
Human Molecular Genetics, 2000
Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis.
Pshezhetsky AV et al.
Nature Genetics, 1997
Pathogenesis, Emerging therapeutic targets and Treatment in Sialidosis.
d'Azzo A et al.
Expert Opinion on Orphan Drugs, 0
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