The rapidly evolving view of lysosomal storage diseases
Abstract Lysosomal storage diseases are a group of metabolic disorders caused by deficiencies of several components of lysosomal function. Most commonly affected are lysosomal hydrolases, which are involved in the breakdown and recycling of a variety of complex molecules and cellular structures. The...
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Online Access: | https://doi.org/10.15252/emmm.202012836 |
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doaj-af55b965be18440e8fdcf0608db347072021-08-02T20:35:55ZengWileyEMBO Molecular Medicine1757-46761757-46842021-02-01132n/an/a10.15252/emmm.202012836The rapidly evolving view of lysosomal storage diseasesGiancarlo Parenti0Diego L Medina1Andrea Ballabio2Telethon Institute of Genetics and Medicine Pozzuoli ItalyTelethon Institute of Genetics and Medicine Pozzuoli ItalyTelethon Institute of Genetics and Medicine Pozzuoli ItalyAbstract Lysosomal storage diseases are a group of metabolic disorders caused by deficiencies of several components of lysosomal function. Most commonly affected are lysosomal hydrolases, which are involved in the breakdown and recycling of a variety of complex molecules and cellular structures. The understanding of lysosomal biology has progressively improved over time. Lysosomes are no longer viewed as organelles exclusively involved in catabolic pathways, but rather as highly dynamic elements of the autophagic‐lysosomal pathway, involved in multiple cellular functions, including signaling, and able to adapt to environmental stimuli. This refined vision of lysosomes has substantially impacted on our understanding of the pathophysiology of lysosomal disorders. It is now clear that substrate accumulation triggers complex pathogenetic cascades that are responsible for disease pathology, such as aberrant vesicle trafficking, impairment of autophagy, dysregulation of signaling pathways, abnormalities of calcium homeostasis, and mitochondrial dysfunction. Novel technologies, in most cases based on high‐throughput approaches, have significantly contributed to the characterization of lysosomal biology or lysosomal dysfunction and have the potential to facilitate diagnostic processes, and to enable the identification of new therapeutic targets.https://doi.org/10.15252/emmm.202012836autophagylysosomal biologylysosomal storage diseaseslysosomes |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Giancarlo Parenti Diego L Medina Andrea Ballabio |
spellingShingle |
Giancarlo Parenti Diego L Medina Andrea Ballabio The rapidly evolving view of lysosomal storage diseases EMBO Molecular Medicine autophagy lysosomal biology lysosomal storage diseases lysosomes |
author_facet |
Giancarlo Parenti Diego L Medina Andrea Ballabio |
author_sort |
Giancarlo Parenti |
title |
The rapidly evolving view of lysosomal storage diseases |
title_short |
The rapidly evolving view of lysosomal storage diseases |
title_full |
The rapidly evolving view of lysosomal storage diseases |
title_fullStr |
The rapidly evolving view of lysosomal storage diseases |
title_full_unstemmed |
The rapidly evolving view of lysosomal storage diseases |
title_sort |
rapidly evolving view of lysosomal storage diseases |
publisher |
Wiley |
series |
EMBO Molecular Medicine |
issn |
1757-4676 1757-4684 |
publishDate |
2021-02-01 |
description |
Abstract Lysosomal storage diseases are a group of metabolic disorders caused by deficiencies of several components of lysosomal function. Most commonly affected are lysosomal hydrolases, which are involved in the breakdown and recycling of a variety of complex molecules and cellular structures. The understanding of lysosomal biology has progressively improved over time. Lysosomes are no longer viewed as organelles exclusively involved in catabolic pathways, but rather as highly dynamic elements of the autophagic‐lysosomal pathway, involved in multiple cellular functions, including signaling, and able to adapt to environmental stimuli. This refined vision of lysosomes has substantially impacted on our understanding of the pathophysiology of lysosomal disorders. It is now clear that substrate accumulation triggers complex pathogenetic cascades that are responsible for disease pathology, such as aberrant vesicle trafficking, impairment of autophagy, dysregulation of signaling pathways, abnormalities of calcium homeostasis, and mitochondrial dysfunction. Novel technologies, in most cases based on high‐throughput approaches, have significantly contributed to the characterization of lysosomal biology or lysosomal dysfunction and have the potential to facilitate diagnostic processes, and to enable the identification of new therapeutic targets. |
topic |
autophagy lysosomal biology lysosomal storage diseases lysosomes |
url |
https://doi.org/10.15252/emmm.202012836 |
work_keys_str_mv |
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1721227198387453952 |