Bi-allelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder
BCAT1基因的双等位基因变异会损害线粒体功能,并与一种候选神经代谢疾病相关。
期刊:HGG Advances
影响因子:3.3
doi:10.1016/j.xhgg.2025.100525.
Brianna L DiSanza,Giulia S Porcari,Livia Sertori Finoti,Leonardo Ramos-Rodriguez,Devin M Burris,Justin A McDonough,Gang Ning,Grace Fagan,Guy T Helman,Erin Weiss,Ryan J Taft,Amy Pizzino,Matthew T Whitehead,Amy Waldman,Cas Simons,Xilma Ortiz-Gonzalez,William C Skarnes,Adeline Vanderver,Elizabeth J Bhoj,Rebecca C Ahrens-Nicklas