Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Stephanie Li-Ying Soh"'
Publikováno v:
Journal of neurochemistry. 129(2)
Gain-of-toxic-function mutations in Seipin (Asparagine 88 to Serine (N88S) and Serine 90 to Leucine (S90L) mutations, both of which disrupt the N-glycosylation) cause autosomal dominant motor neuron diseases. However, the mechanism of how these misse
Autor:
Wenjie Qiu, Stephanie Li-Ying Soh, Wulin Yang, Wei-Yi Ong, Shunhui Wei, Weiping Han, Cheyenne Jia-Yan Seah, Zhiping P. Pang, Jing Guo
Publikováno v:
Journal of neurochemistry. 124(4)
Heterozygosity for missense mutations in Seipin, namely N88S and S90L, leads to a broad spectrum of motor neuropathy, while a number of loss-of-function mutations in Seipin are associated with the Berardinelli–Seip congenital generalized lipodystro
Autor:
Zhiguo Liu, Chun Yan Lim, Michelle Yu-Fah Su, Stephanie Li Ying Soh, Guanghou Shui, Wenk, Markus R., Grove, Kevin L., Radda, George K., Weiping Han, Xiaoqiu Xiao
Publikováno v:
Journal of Endocrinology; Nov2013, Vol. 219 Issue 2, p131-143, 13p