Novel HSAN1 Mutation in Serine Palmitoyltransferase Resides at a Putative Phosphorylation Site That Is Involved in Regulating Substrate Specificity-Reference-Cited by-同舟云学术

Novel HSAN1 Mutation in Serine Palmitoyltransferase Resides at a Putative Phosphorylation Site That Is Involved in Regulating Substrate Specificity

Published:2015-01-08 Issue:1 Volume:17 Page:47-57
ISSN:1535-1084
Container-title:NeuroMolecular Medicine
language:en
Short-container-title:Neuromol Med

Author:

Ernst Daniela,Murphy Sinéad M.,Sathiyanadan Karthik,Wei Yu,Othman Alaa,Laurá Matilde,Liu Yo-Tsen,Penno Anke,Blake Julian,Donaghy Michael,Houlden Henry,Reilly Mary M.,Hornemann Thorsten

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology,Molecular Medicine

Link

http://link.springer.com/content/pdf/10.1007/s12017-014-8339-1.pdf

Reference29 articles.

1. Bejaoui, K., Wu, C., Scheffler, M. D., Haan, G., Ashby, P., Wu, L., et al. (2001). SPTLC1 is mutated in hereditary sensory neuropathy, type 1. Nature Genetics, 27(3), 261–262.

2. Bertea, M., Rutti, M. F., Othman, A., Marti-Jaun, J., Hersberger, M., von Eckardstein, A., et al. (2010). Deoxysphingoid bases as plasma markers in Diabetes mellitus. Lipids in Health and Disease, 9, 84. doi: 10.1186/1476-511X-9-84 .

3. Breslow, D. K., & Weissman, J. S. (2010). Membranes in balance: mechanisms of sphingolipid homeostasis. Molecular Cell, 40(2), 267–279. doi: 10.1016/j.molcel.2010.10.005 .

4. Breslow, D. K., Collins, S. R., Bodenmiller, B., Aebersold, R., Simons, K., Shevchenko, A., et al. (2010). Orm family proteins mediate sphingolipid homeostasis. Nature, 463(7284), 1048–1053. doi: 10.1038/nature08787 .

5. Dawkins, J. L., Hulme, D. J., Brahmbhatt, S. B., Auer-Grumbach, M., & Nicholson, G. A. (2001). Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Nature Genetics, 27(3), 309–312.

Cited by 27 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Human genetic defects of sphingolipid synthesis;Journal of Inherited Metabolic Disease;2024-05-05

2. Mysterious sphingolipids: metabolic interrelationships at the center of pathophysiology;Frontiers in Physiology;2024-01-03

3. Characterization of an Unusual α‐Oxoamine Synthase Off‐Loading Domain from a Cyanobacterial Type I Fatty Acid Synthase;ChemBioChem;2023-05-25

4. Structural insights into the substrate recognition of serine palmitoyltransferase from Sphingobacterium multivorum;Journal of Biological Chemistry;2023-05

5. Phosphorylation of the LCB1 subunit of Arabidopsis serine palmitoyltransferase stimulates its activity and modulates sphingolipid biosynthesis;Journal of Integrative Plant Biology;2023-03-03