Cargando…
Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase
Missense mutations in spermine synthase (SpmSyn) protein have been shown to cause the Snyder-Robinson syndrome (SRS). Depending on the location within the structure of SpmSyn and type of amino acid substitution, different mechanisms resulting in SRS were proposed. Here we focus on naturally occurrin...
Autores principales: | Peng, Yunhui, Norris, Joy, Schwartz, Charles, Alexov, Emil |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4730321/ https://www.ncbi.nlm.nih.gov/pubmed/26761001 http://dx.doi.org/10.3390/ijms17010077 |
Ejemplares similares
-
In Silico and In Vitro Investigations of the Mutability of Disease-Causing Missense Mutation Sites in Spermine Synthase
por: Zhang, Zhe, et al.
Publicado: (2011) -
Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome
por: Li, Chong, et al.
Publicado: (2017) -
Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome
por: Li, Chong, et al.
Publicado: (2018) -
Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome
por: Qazi, Talal J., et al.
Publicado: (2020) -
Snyder-Robinson syndrome
por: Starks, Rachel, et al.
Publicado: (2018)