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Acid sphingomyelinase, cell membranes and human disease: Lessons from Niemann–Pick disease
Author(s) -
Schuchman Edward H.
Publication year - 2010
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/j.febslet.2009.11.083
Subject(s) - niemann–pick disease , sphingomyelin , membrane , disease , acid sphingomyelinase , cell , chemistry , biochemistry , microbiology and biotechnology , medicine , biology
Acid sphingomyelinase (ASM) plays an important role in normal membrane turnover through the hydrolysis of sphingomyelin, and is one of the key enzymes responsible for the production of ceramide. ASM activity is deficient in the genetic disorder Types A and B Niemann–Pick disease (NPD). ASM knockout (ASMKO) mice were originally constructed to study this disorder, and numerous defects in ceramide‐related signaling have been shown. Studies in these mice have further suggested that ASM may be involved in the pathogenesis of several common diseases through the reorganization of membrane microdomains. This review will focus on the role of ASM in membrane biology, with a specific emphasis on what a rare genetic disorder (NPD) has taught us about more common events.