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
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Multimodal imaging findings in a patient with type I sialidosis with a compound heterozygous mutation in the NEU1 gene.
Wan C et al.
Quantitative Imaging in Medicine and Surgery, 2021
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations
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
Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex.
Lukong KE et al.
The Journal of Biological Chemistry, 2001
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