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
Proof of Concept for Genome Profiling of the Neurofibroma/Sarcoma Sequence in Neurofibromatosis Type 1.
Cannizzaro IR et al.
International Journal of Molecular Sciences, 2024
39409151 (PubMed )
Supplement: ijms-25-10822-s001.zip › Supplementary_Table_S1.xlsx › Primary_tumor_ACMG_AMP
A Novel Homozygous Missense Variant in the NAGA Gene with Extreme Intrafamilial Phenotypic Heterogeneity.
Mohamed FE et al.
Journal of Molecular Neuroscience : Mn, 2020
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeIII
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
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy?
Bakker HD et al.
European Journal of Human Genetics : Ejhg, 2001
Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency.
Michalski JC et al.
Biochimica Et Biophysica Acta, 1999
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.
Keulemans JL et al.
Journal of Medical Genetics, 1996
The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria.
Wang AM et al.
The Journal of Clinical Investigation, 1994
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