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
AAV-mediated gene therapy for Sialidosis.
van de Vlekkert D et al.
Biorxiv : the Preprint Server for Biology, 2023
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 type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients.
Arora V et al.
Molecular Genetics and Metabolism Reports, 2020
Sialidosis: A Review of Morphology and Molecular Biology of a Rare Pediatric Disorder.
Khan A et al.
Diagnostics (basel, Switzerland), 2018
Clinical and serial MRI findings of a sialidosis type I patient with a novel missense mutation in the NEU1 gene.
Sekijima Y et al.
Internal Medicine (tokyo, Japan), 2013
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
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.
Pattison S et al.
Human Mutation, 2004
Molecular pathology of NEU1 gene in sialidosis.
Seyrantepe V et al.
Human Mutation, 2003
Clinical variability of type II sialidosis by C808T mutation.
Rodríguez Criado G et al.
American Journal of Medical Genetics. Part A, 2003
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
Pathogenesis, Emerging therapeutic targets and Treatment in Sialidosis.
d'Azzo A et al.
Expert Opinion on Orphan Drugs, 0
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