Analysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann–Pick disease patients: Mutation profile and description of a novel mutation-Reference-Cited by-同舟云学术

Analysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann–Pick disease patients: Mutation profile and description of a novel mutation

Published:2013-09 Issue:2 Volume:526 Page:484-486
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Aykut A.,Karaca E.,Onay H.,Kalkan Ucar S.,Coker M.,Cogulu O.,Ozkinay F.

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference16 articles.

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3. Acid sphingomyelinase mediated release of ceramide is essential to trigger the mitochondrial pathway of apoptosis by galectin-1;Ion;Cell. Signal.,2006

4. Human acid sphingomyelinase;Lansmann;Eur. J. Biochem.,2003

5. Carboxyl-terminal disulfide bond of acid sphingomyelinase is critical for its secretion and enzymatic function;Lee;Biochemistry,2007

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