Associated Papers
Mapping Lysosomal Storage Disorders with Neurological Features by Cellular Pathways: Towards Precision Medicine.
Makridou A et al.
Current Issues in Molecular Biology, 2025
A Novel Homozygous Missense Variant in the NAGA Gene with Extreme Intrafamilial Phenotypic Heterogeneity.
Mohamed FE et al.
Journal of Molecular Neuroscience : Mn, 2020
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › together
Exploration of Structural and Functional Variations Owing to Point Mutations in α-NAGA.
Meshach Paul D et al.
Interdisciplinary Sciences, Computational Life Sciences, 2018
The 1.9 a structure of human alpha-N-acetylgalactosaminidase: The molecular basis of Schindler and Kanzaki diseases.
Clark NE et al.
Journal of Molecular Biology, 2009
Three dimensional structural studies of alpha-N-acetylgalactosaminidase (alpha-NAGA) in alpha-NAGA deficiency (Kanzaki disease): different gene mutations cause peculiar structural changes in alpha-NAGAs resulting in different substrate specificities and clinical phenotypes.
Kanekura T et al.
Journal of Dermatological Science, 2005
Structural and immunocytochemical studies on alpha-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease).
Sakuraba H et al.
Journal of Human Genetics, 2004
A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Ménière's syndrome and without mental retardation.
Kodama K et al.
The British Journal of Dermatology, 2001
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