3GZO

HUMAN SOD1 G93A Variant

3GZO の概要

• エントリーDOI: 10.2210/pdb3gzo/pdb
• 関連するPDBエントリー: 3GZP 3GZQ
• 分子名称: Superoxide dismutase [Cu-Zn], COPPER (II) ION, ZINC ION, ... (6 entities in total)
• 機能のキーワード: oxidoreductase, human cu, zn superoxide dismutase, antioxidant, metal-binding, amyotrophic lateral sclerosis, disease mutation, disulfide bond, phosphoprotein
• 由来する生物種: Homo sapiens (Human)
• 細胞内の位置: Cytoplasm: P00441
• タンパク質・核酸の鎖数: 10
• 化学式量合計: 160252.02

構造登録者

Galaleldeen, A.,Taylor, A.B.,Narayana, N.,Whitson, L.J.,Hart, P.J. (登録日: 2009-04-07, 公開日: 2009-10-13, 最終更新日: 2024-10-30)

主引用文献

Galaleldeen, A.,Strange, R.W.,Whitson, L.J.,Antonyuk, S.V.,Narayana, N.,Taylor, A.B.,Schuermann, J.P.,Holloway, S.P.,Hasnain, S.S.,Hart, P.J.
Structural and biophysical properties of metal-free pathogenic SOD1 mutants A4V and G93A.
Arch.Biochem.Biophys., 492:40-47, 2009

PubMed Abstract: Amyotrophic lateral sclerosis (ALS) is a fatal, progressive neurodegenerative disease characterized by the destruction of motor neurons in the spinal cord and brain. A subset of ALS cases are linked to dominant mutations in copper-zinc superoxide dismutase (SOD1). The pathogenic SOD1 variants A4V and G93A have been the foci of multiple studies aimed at understanding the molecular basis for SOD1-linked ALS. The A4V variant is responsible for the majority of familial ALS cases in North America, causing rapidly progressing paralysis once symptoms begin and the G93A SOD1 variant is overexpressed in often studied murine models of the disease. Here we report the three-dimensional structures of metal-free A4V and of metal-bound and metal-free G93A SOD1. In the metal-free structures, the metal-binding loop elements are observed to be severely disordered, suggesting that these variants may share mechanisms of aggregation proposed previously for other pathogenic SOD1 proteins.

PubMed: 19800308
DOI: 10.1016/j.abb.2009.09.020

実験手法

X-RAY DIFFRACTION (2.1 Å)