scholarly journals Therapeutic Approaches in Lysosomal Storage Diseases

Biomolecules ◽  
2021 ◽  
Vol 11 (12) ◽  
pp. 1775
Author(s):  
Carlos Fernández-Pereira ◽  
Beatriz San Millán-Tejado ◽  
María Gallardo-Gómez ◽  
Tania Pérez-Márquez ◽  
Marta Alves-Villar ◽  
...  
Keyword(s):  
Small Molecules ◽  
Lysosomal Storage Diseases ◽  
Therapeutic Strategies ◽  
Lysosomal Storage ◽  
Future Perspectives ◽  
Therapeutic Approaches ◽  
Lysosomal Function ◽  
Storage Diseases ◽  
Enzyme Replacement ◽  
Multisystemic Disorders

Lysosomal Storage Diseases are multisystemic disorders determined by genetic variants, which affect the proteins involved in lysosomal function and cellular metabolism. Different therapeutic approaches, which are based on the physiologic mechanisms that regulate lysosomal function, have been proposed for these diseases. Currently, enzyme replacement therapy, gene therapy, or small molecules have been approved or are under clinical development to treat lysosomal storage disorders. The present article reviews the main therapeutic strategies that have been proposed so far, highlighting possible limitations and future perspectives.

scholarly journals Sphingolipid lysosomal storage diseases: from bench to bedside

2021 ◽  
Vol 20 (1) ◽  
Author(s):  
Muna Abed Rabbo ◽  
Yara Khodour ◽  
Laurie S. Kaguni ◽  
Johnny Stiban
Keyword(s):  
Basic Research ◽  
Lysosomal Storage Diseases ◽  
Therapeutic Strategies ◽  
Clinical Applications ◽  
Late Nineteenth Century ◽  
Lysosomal Storage ◽  
Storage Diseases ◽  
The Past ◽  
Health And Disease ◽  
General Aspects

AbstractJohann Ludwig Wilhelm Thudicum described sphingolipids (SLs) in the late nineteenth century, but it was only in the past fifty years that SL research surged in importance and applicability. Currently, sphingolipids and their metabolism are hotly debated topics in various biochemical fields. Similar to other macromolecular reactions, SL metabolism has important implications in health and disease in most cells. A plethora of SL-related genetic ailments has been described. Defects in SL catabolism can cause the accumulation of SLs, leading to many types of lysosomal storage diseases (LSDs) collectively called sphingolipidoses. These diseases mainly impact the neuronal and immune systems, but other systems can be affected as well. This review aims to present a comprehensive, up-to-date picture of the rapidly growing field of sphingolipid LSDs, their etiology, pathology, and potential therapeutic strategies. We first describe LSDs biochemically and briefly discuss their catabolism, followed by general aspects of the major diseases such as Gaucher, Krabbe, Fabry, and Farber among others. We conclude with an overview of the available and potential future therapies for many of the diseases. We strive to present the most important and recent findings from basic research and clinical applications, and to provide a valuable source for understanding these disorders.

scholarly journals Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction

2016 ◽  
Vol 117 (2) ◽  
pp. 66-83 ◽  
Author(s):  
Priya S. Kishnani ◽  
Patricia I. Dickson ◽  
Laurie Muldowney ◽  
Jessica J. Lee ◽  
Amy Rosenberg ◽  
...  
Keyword(s):  
Immune Response ◽  
Immune Tolerance ◽  
Tolerance Induction ◽  
Lysosomal Storage Diseases ◽  
Lysosomal Storage ◽  
Immune Tolerance Induction ◽  
Storage Diseases ◽  
Enzyme Replacement

Management of hypersensitivity reactions to enzyme replacement therapy in children with lysosomal storage diseases

2020 ◽  
Vol 125 (4) ◽  
pp. 460-467
Author(s):  
Irem Turgay Yagmur ◽  
Ozlem Unal Uzun ◽  
Aynur Kucukcongar Yavas ◽  
Ilknur Kulhas Celik ◽  
Muge Toyran ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Lysosomal Storage Diseases ◽  
Hypersensitivity Reactions ◽  
Lysosomal Storage ◽  
Storage Diseases ◽  
Enzyme Replacement

Therapeutic Approaches for Lysosomal Storage Diseases: A Patent Update

2013 ◽  
Vol 8 (2) ◽  
pp. 91-109 ◽  
Author(s):  
Lorena Urbanelli ◽  
Krizia Sagini ◽  
Mario Polidoro ◽  
Alessandro Brozzi ◽  
Alessandro Magini ◽  
...  
Keyword(s):  
Lysosomal Storage Diseases ◽  
Lysosomal Storage ◽  
Therapeutic Approaches ◽  
Storage Diseases
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