Abstract:
:Lysosomal storage disorders (LSDs) are inherited metabolic diseases caused by deficiencies in lysosomal proteins, which result in accumulation of undegraded metabolites and disruption of lysosomal proteostasis. Despite significant progress in the molecular genetics and biochemistry underlying the cellular pathogenesis of LSDs, the mechanisms that link accumulation of storage material to development and progression of these diseases are still unclear. At the crossroad of degradative pathways, lysosomes play a fundamental role in the maintenance of cellular homeostasis. Through a series of examples, this review illustrates how defects in lysosomal biogenesis and function impact a number of cellular pathways that are involved in the pathogenic cascade.
journal_name
IUBMB Lifejournal_title
IUBMB lifeauthors
Segatori Ldoi
10.1002/iub.1288subject
Has Abstractpub_date
2014-07-01 00:00:00pages
472-7issue
7eissn
1521-6543issn
1521-6551journal_volume
66pub_type
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