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Impairment of homeostasis in lysosomal storage disorders
Author(s) -
Segatori Laura
Publication year - 2014
Publication title -
iubmb life
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.132
H-Index - 113
eISSN - 1521-6551
pISSN - 1521-6543
DOI - 10.1002/iub.1288
Subject(s) - proteostasis , biogenesis , autophagy , biology , microbiology and biotechnology , homeostasis , function (biology) , lysosome , pathogenesis , biochemistry , enzyme , immunology , gene , apoptosis
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. © 2014 IUBMB Life, 66(7):472–477, 2014