Impairment of homeostasis in lysosomal storage disorders.

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 Life

journal_title

IUBMB life

authors

Segatori L

doi

10.1002/iub.1288

subject

Has Abstract

pub_date

2014-07-01 00:00:00

pages

472-7

issue

7

eissn

1521-6543

issn

1521-6551

journal_volume

66

pub_type

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