Niemann-Pick Disease
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1778-1
Reference25 articles.
1. Brady RO, Kanfer JN, Mock MB, Fredrickson DS (1966) The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae. Proc Natl Acad Sci U S A 55:366–369. https://doi.org/10.1073/pnas.55.2.366
2. Buccinnà B et al (2009) Alterations of myelin-specific proteins and sphingolipids characterize the brains of acid sphingomyelinase-deficient mice, an animal model of Niemann-Pick disease type A. J Neurochem 109:105–115. https://doi.org/10.1111/j.1471-4159.2009.05947.x
3. Charruyer A, Grazide S, Bezombes C, Müller S, Laurent G, Jaffrézou JP (2005) UV-C light induces raft-associated acid sphingomyelinase and JNK activation and translocation independently on a nuclear signal. J Biol Chem 280:19196–19204. https://doi.org/10.1074/jbc.M412867200
4. da Veiga Pereira L, Desnick RJ, Adler DA, Disteche CM, Schuchman EH (1991) Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1–p15.4. Genomics 9:229–234. https://doi.org/10.1016/0888-7543(91)90246-b
5. Fowler S (1969) Lysosomal localization of sphingomyelinase in rat liver. Biochim Biophys Acta 191:481–484. https://doi.org/10.1016/0005-2744(69)90271-x
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