Lysosomal Storage Diseases

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)

Skeletal muscle biology / Immunohistochemistry / Multidisciplinary / Nature / Western blotting / Mental Retardation / Case Report / Humans / Female / Male / Genetic linkage analysis / X chromosome / Cardiomyopathies / Membrane Protein / Lysosomal Storage Diseases / Mental Retardation / Case Report / Humans / Female / Male / Genetic linkage analysis / X chromosome / Cardiomyopathies / Membrane Protein / Lysosomal Storage Diseases

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)

Skeletal muscle biology / Immunohistochemistry / Multidisciplinary / Nature / Western blotting / Mental Retardation / Case Report / Humans / Female / Male / Genetic linkage analysis / X chromosome / Cardiomyopathies / Membrane Protein / Lysosomal Storage Diseases / Mental Retardation / Case Report / Humans / Female / Male / Genetic linkage analysis / X chromosome / Cardiomyopathies / Membrane Protein / Lysosomal Storage Diseases

Ser72Pro active-site disease mutation in human lysosomal aspartylglucosaminidase: abnormal intracellular processing and evidence for extracellular activation

Biological Sciences / Cercopithecus aethiops / Humans / Animals / Human Molecular Genetics / Endoplasmic Reticulum / Proline / Enzyme / Active site / Enzyme activity / Amino Acid Profile / Lysosomes / Lysosomal Storage Diseases / Transient Expression / Proteolytic activity / Endoplasmic Reticulum / Proline / Enzyme / Active site / Enzyme activity / Amino Acid Profile / Lysosomes / Lysosomal Storage Diseases / Transient Expression / Proteolytic activity

Model SV40-transformed fibroblast lines for metabolic studies of human prosaposin and acid ceramidase deficiencies

Cell line / Humans / Virus / Sphingomyelin / Glycoproteins / Clinical Sciences / Fetus / Thin Layer Chromatography / Low Density Lipoprotein (LDL) / Biological Model / Lysosomal Storage Diseases / Clinical Sciences / Fetus / Thin Layer Chromatography / Low Density Lipoprotein (LDL) / Biological Model / Lysosomal Storage Diseases

Neurolysosomal pathology in human prosaposin deficiency suggests essential neurotrophic function of prosaposin

Confocal Microscopy / Ubiquitin / Humans / Child / Cerebral Cortex / Male / Astrocyte / Neurons / Clinical Sciences / Newborn Infant / Autopsy / Glial Fibrillary Acidic Protein / Lysosomes / Neurosciences / Glycosphingolipids / Lysosomal Storage Diseases / Ubiquitination / Male / Astrocyte / Neurons / Clinical Sciences / Newborn Infant / Autopsy / Glial Fibrillary Acidic Protein / Lysosomes / Neurosciences / Glycosphingolipids / Lysosomal Storage Diseases / Ubiquitination

Identification and Characterization of Pharmacological Chaperones to Correct Enzyme Deficiencies in Lysosomal Storage Disorders

Pharmaceutical Technology / Molecular chaperones / Humans / Animals / Drug Design / Biological Assay / Lysosomal Storage Diseases / Biological Assay / Lysosomal Storage Diseases

Copyright © 2017 DATOSPDF Inc.