CARDIOVASCULAR INVOLVEMENT IN POMPE DISEASE [PDF]
Romanian Journal of Pediatrics, 2017 Lysosomal storage diseases are a diverse group of monogenic disorders which are as defined by defects in lysosomal function. The heart is part of the clinical phenotype of lysosomal storage diseases.
Alina-Costina Luca, Elena Braha
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Cytosolic Glucosylceramide regulates endolysosomal function in Niemann-Pick type C disease [PDF]
, 2019 A new paradigm for Niemann-Pick C disease is presented where lysosomal storage leads to a deficit in cytoplasmic glucosylceramide (GlcCer) where it performs important functions.
Bhardwaj, Meenakshi +5 more
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Mitochondrial Dysfunction in Lysosomal Storage Disorders
Diseases, 2016 Lysosomal storage diseases (LSDs) describe a heterogeneous group of rare inherited metabolic disorders that result from the absence or loss of function of lysosomal hydrolases or transporters, resulting in the progressive accumulation of undigested ...
Mario de la Mata +8 more
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Lysosomal exocytosis and lipid storage disorders
Journal of Lipid Research, 2014 Lysosomes are acidic compartments in mammalian cells that are primarily responsible for the breakdown of endocytic and autophagic substrates such as membranes, proteins, and lipids into their basic building blocks. Lysosomal storage diseases (LSDs) are a
Mohammad Ali Samie, Haoxing Xu
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Engineering of GlcNAc-1-phosphotransferase for production of highly phosphorylated lysosomal enzymes for enzyme replacement therapy [PDF]
, 2017 Several lysosomal enzymes currently used for enzyme replacement therapy in patients with lysosomal storage diseases contain very low levels of mannose 6-phosphate, limiting their uptake via mannose 6-phosphate receptors on the surface of the deficient ...
Doray, Balraj +3 more
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Role of lysosomes in physiological activities, diseases, and therapy
Journal of Hematology & Oncology, 2021 Long known as digestive organelles, lysosomes have now emerged as multifaceted centers responsible for degradation, nutrient sensing, and immunity. Growing evidence also implicates role of lysosome-related mechanisms in pathologic process. In this review,
Ziqi Zhang +5 more
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Gene Therapy for Lysosomal Storage Disorders
Journal of Inborn Errors of Metabolism and Screening, 2017 Lysosomal storage disorders (LSDs) are a group of diseases with multisystemic features. Current treatments have limitations and gene therapy arises as a promising treatment option. Here, we discuss some of the most recent studies for gene therapy in LSD,
Esteban Alberto Gonzalez MSc +1 more
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Lysosomal acid lipase deficiency in a 6-year-old child: case report
Archives of the Balkan Medical Union, 2020 Introduction. Cholesteryl ester storage disease or lysosomal acid lipase deficiency is a rare severe congenital enzyme pathology of lysosomal storage disorders.
Oleksandra SHULHAI +2 more
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The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina : Genotype, Experiences, Anecdotes, and New Learnings [PDF]
, 2015 The lysosomal storage disorder Fabry disease (FD) is caused by pathogenic mutations in the α-galactosidase A gene, localized in X chromosome. Deficient enzymatic activity of the product of this gene, the lysosomal hydrolase α-galactosidase A, leads to ...
Ceci, Romina +3 more
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Coutinho et al. Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders. Int. J. Mol. Sci. 2016, 17, 1065 [PDF]
, 2017 Erratum for Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders. [Int J Mol Sci.
Alves, Sandra +2 more
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