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Lysosomal Storage Diseases

Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations

Confocal Microscopy / Biological Sciences / DNA / Humans / Mutation / Human Molecular Genetics / Endoplasmic Reticulum / Fluorescent Antibody Technique / Active site / Amino Acid Profile / Transfection / Protein Conformation / Amino Acid Sequence / Body of Knowledge / Human Fibroblasts / Lysosomes / Ligands / Lysosomal Storage Diseases / Human Molecular Genetics / Endoplasmic Reticulum / Fluorescent Antibody Technique / Active site / Amino Acid Profile / Transfection / Protein Conformation / Amino Acid Sequence / Body of Knowledge / Human Fibroblasts / Lysosomes / Ligands / Lysosomal Storage Diseases

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A novel aspartylglucosaminuria mutation affects translocation of aspartylglucosaminidase

Genetics / Human / Finland / Cercopithecus aethiops / Cell line / Humans / Animals / Male / Endoplasmic Reticulum / Clinical Sciences / Transfection / Amino Acid Sequence / Amino Acid Substitution Rates / Structure activity Relationship / Lysosomes / Protein Transport / Lysosomal Storage Diseases / Humans / Animals / Male / Endoplasmic Reticulum / Clinical Sciences / Transfection / Amino Acid Sequence / Amino Acid Substitution Rates / Structure activity Relationship / Lysosomes / Protein Transport / Lysosomal Storage Diseases

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