新的人类双糖酸盐突变酶结构为BPGM缺乏和酸盐抑制的结构基础提供了洞察力

Sergio Martínez-Rodríguez1, Jesús M Torres2, Pilar Sánchez2

  • 1Department of Biochemistry and Molecular Biology III and Immunology, University of Granada, Avenida de la Investigación 11, Granada, 18071, Spain; Raw Materials, Human and Environmental Health, UGR, Associated Unit of the CSIC by the IACT-CSIC, Avda. de Las Palmeras 4, Armilla, Granada, 18100, Spain.

概括

红细胞双糖酸突变酶 (BPGM) 缺乏会损害氧气的释放,导致组织缺氧和多细胞血. 对BPGM变异的结构分析揭示了对这种罕见疾病的分子洞察力.