Molecular pathology of NEU1 gene in sialidosis
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference55 articles.
1. A severe infantile sialidosis: Clinical, biochemical, and microscopic features
2. Neuraminidase deficiency presenting as non-immune hydrops fetalis
3. Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis.
4. Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis
5. Cloning and characterization of a sialidase from the murine histocompatibility-2 complex: low levels of mRNA and a single amino acid mutation are responsible for reduced sialidase activity in mice carrying the Neula allele
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1. Clinical and Structural Characteristics of NEU1 Variants Causing Sialidosis Type 1;Journal of Movement Disorders;2024-07-31
2. Neuraminidase-1 (NEU1): Biological Roles and Therapeutic Relevance in Human Disease;Current Issues in Molecular Biology;2024-07-26
3. Juvenile sialidosis: a rare case and review of the literature;Annals of Medicine & Surgery;2024-02-28
4. Developmental and Inherited Liver Disease;MacSween's Pathology of the Liver;2024
5. Severe kidney dysfunction in sialidosis mice reveals an essential role for neuraminidase 1 in reabsorption;JCI Insight;2023-10-23
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