Lysosomal storage diseases

  title={Lysosomal storage diseases},
  author={Frances M. Platt and Alessandra d’Azzo and Beverly L. Davidson and Elizabeth F. Neufeld and Cynthia J. Tifft},
  journal={Nature Reviews Disease Primers},
Lysosomal storage diseases (LSDs) are a group of over 70 diseases that are characterized by lysosomal dysfunction, most of which are inherited as autosomal recessive traits. These disorders are individually rare but collectively affect 1 in 5,000 live births. LSDs typically present in infancy and childhood, although adult-onset forms also occur. Most LSDs have a progressive neurodegenerative clinical course, although symptoms in other organ systems are frequent. LSD-associated genes encode… 

Treatment for Lysosomal Storage Disorders.

An elaborate description of the main treatment methods for lysosomal storage disorders including Enzyme replacement therapy, Bone marrow transplantation, Substrate reduction therapy, use of molecular chaperones, and Gene therapy are presented.

Autophagy and Lysosome Storage Disorders.

  • H. RenGuanghui Wang
  • Biology, Chemistry
    Advances in experimental medicine and biology
  • 2020
The modulation of autophagy has been considered as novel therapeutic approach for LSDs, which can result in multiple systemic damages, including the nervous system, skeletal system and reticuloendothelial system, especially in the early stages of the disease.

Lysosomal positioning diseases: beyond substrate storage

Recent advances in the knowledge of cellular and molecular mechanisms linking lysosomal positioning and trafficking to LSDs are discussed.

Lysosomal storage disorders – challenges, concepts and avenues for therapy: beyond rare diseases

A critical review of the current knowledge on the cellular processes involved in lysosomal storage disorders is discussed, and how understanding of these rare disorders could be applied to more common diseases is discussed.

Modeling Lysosomal Storage Diseases in the Zebrafish

Non-mammalian models of LSDs are highlighted, focusing specifically on the zebrafish, a vertebrate model organism that shares remarkable genetic and metabolic similarities with mammals while also conferring unique advantages such as optical transparency and amenability toward high-throughput applications.

Inherited disorders of lysosomal membrane transporters.

Practical management of lysosomal storage disorders (LSDs)

Current and new therapeutic strategies as well as disease non-specific management of LSDs are reviewed, including gene therapy, which could slow disease progression and improve prognosis.

Lysosomal Storage Disorders

Nanotechnology-based approaches for treating lysosomal storage disorders, a focus on Fabry disease.

The present review summarizes distinct approaches followed by the group and collaborators on the use of nanotechnology-based drug delivery systems (DDS) for restoring lysosomal enzymes in disease-affected cells.



Pathophysiology of neuropathic lysosomal storage disorders

A discussion about the CNS pathophysiology involvement in LSDs is the aim of this review, and new insights may provide indications about possible disease reversal upon treatment.

Neuroinflammatory paradigms in lysosomal storage diseases

The role of neuroinflammation in select LSDs and its potential contribution to neuron loss are highlighted.

Common and Uncommon Pathogenic Cascades in Lysosomal Storage Diseases*

How pathogenic cascades impact upon LSD pathology are reviewed and how intervention in the pathways may lead to novel therapeutic approaches is suggested.

Prevalence of lysosomal storage disorders.

There was no significant increase in the rate of either clinical diagnoses or prenatal diagnoses of lysosomal storage disorders during the study period, and as a group, they are relatively common and represent an important health problem in Australia.

Lysosomal storage diseases: from pathophysiology to therapy.

As knowledge has improved about the pathophysiology of lysosomal storage diseases, novel targets for therapy have been identified, and innovative treatment approaches are being developed.

Gaucher disease and other storage disorders.

  • G. Grabowski
  • Medicine
    Hematology. American Society of Hematology. Education Program
  • 2012
The delineation of the causal enzymatic defects, genetics, molecular pathology, and genomics have provided pathogenic insights into the phenotypic spectrum and the bases for development of specific therapies for what is now known as Gaucher disease.

Gene therapy for lysosomal storage diseases.

  • M. SandsB. Davidson
  • Biology, Medicine
    Molecular therapy : the journal of the American Society of Gene Therapy
  • 2006

Mass Spectrometry-based Protein Profiling to Determine the Cause of Lysosomal Storage Diseases of Unknown Etiology*

Results indicate that this protein expression approach is useful for identifying defects in cases of undiagnosed lysosomal disease, and it is demonstrated that it can be used with more accessible patient samples, e.g. cultured cells.