日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Variable thresholds for phosphorylation targets of the ERK signaling pathway

ERK信号通路磷酸化靶点的可变阈值

Hayashi, Kristyn; Sekaran, Suganya; Simpson, Pelle; Ebmeier, Christopher C; Michel, Cole R; Ahn, Natalie G

A Nonketotic Hyperglycinemia Mouse Shows Wide-Ranging Biochemical Consequences of Elevated Glycine, Reduced Folate One-Carbon Charging, and Serine Deficiency

非酮症高甘氨酸血症小鼠表现出甘氨酸升高、叶酸一碳糖化减少和丝氨酸缺乏引起的广泛生化后果

Swanson, Michael A; Jiang, Hua; Kolora, Lakshmi Divya; Molino, Rachel; Reisdorph, Richard; Michel, Cole R; Doenges, Katrina A; Leung, Kit-Yi; Lin, Xiangping; Wong, Frank; Lancaster, Samual; Michael, Basil; Snyder, Michael; Hock, Daniella H; Stroud, David A; Wood, Tim; Binard, Robert; Anderson-Lehman, Laura; Christians, Uwe; Arning, Erland; Friederich, Marisa W; Van Hove, Roxanne A; MacLean, Kenneth N; Greene, Nicholas D E; Van Hove, Johan L K

Acetylation of proximal cysteine-lysine pairs by alcohol metabolism

酒精代谢引起的近端半胱氨酸-赖氨酸对的乙酰化

McGinnis, Courtney D; Harris, Peter S; Graham, Brenton I M; Marentette, John O; Michel, Cole R; Saba, Laura M; Reisdorph, Richard; Roede, James R; Fritz, Kristofer S

Deacetylation of SOD3 by sirtuins restores furin cleavage

sirtuins 对 SOD3 的去乙酰化作用恢复了弗林蛋白酶的切割活性

Mitchem, Emily C; Harris, Peter S; Michel, Cole R; McGinnis, Courtney D; Ray, Shashikant; Mallela, Krishna M G; Roede, James R; Petersen, Steen V; Nozik, Eva S; Fritz, Kristofer S

The Chromatin Remodeler Protein CHD4 Cooperates With NKX2.2 to Regulate Pancreatic Beta Cell Integrity.

染色质重塑蛋白 CHD4 与 NKX2.2 协同调节胰岛 β 细胞的完整性

Sarbaugh Dylan K, Oliveira Thais Gaia, Guney Michelle A, Hoelscher Victoria M, Hill Christopher J, Michel Cole R, Wells Kristen L, Benninger Richard K P, Sussel Lori

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.

显性负性 ATP5F1A 变体破坏氧化磷酸化,导致神经系统疾病

Fielder Sara M, Friederich Marisa W, Hock Daniella H, Zhang Jessie R, Valin Liana M, Rosenfeld Jill A, Booth Kevin T A, Brown Natasha J, Rius Rocio, Sharma Tanavi, Semcesen Liana N, Worley Kim C, Burrage Lindsay C, Treat Kayla, Samson Tara, Govert Sarah, DaCunha Sara, Yuan Weimin, Chen Jian, Lesinski Jacob, Hoang Hieu, Morrison Stephanie A, Ladha Farah A, Van Hove Roxanne A, Michel Cole R, Reisdorph Richard, Tycksen Eric, Baldridge Dustin, Silverman Gary A, Soler-Alfonso Claudia, Conboy Erin, Vetrini Francesco, Emrick Lisa, Craigen William J, Sykes Stephen M, Stroud David A, Van Hove Johan L K, Schedl Tim, Pak Stephen C

An integrated multi-omics approach allowed ultra-rapid diagnosis of a deep intronic pathogenic variant in PDHX and precision treatment in a neonate critically ill with lactic acidosis.

综合多组学方法能够超快速地诊断出 PDHX 基因深内含子致病变异,并对患有乳酸性酸中毒的危重新生儿进行精准治疗

Starosta Rodrigo T, Larson Austin A, Meeks Naomi J L, Gracie Sara, Friederich Marisa W, Gaughan Sommer M, Baker Peter R 2nd, Knupp Kelly G, Michel Cole R, Reisdorph Richard, Hock Daniella H, Stroud David A, Wood Tim, Van Hove Johan L K

ACAD9 treatment with bezafibrate and nicotinamide riboside temporarily stabilizes cardiomyopathy and lactic acidosis.

使用苯扎贝特和烟酰胺核苷治疗 ACAD9 可暂时稳定心肌病和乳酸性酸中毒

Van Hove Johan L K, Friederich Marisa W, Hock Daniella H, Stroud David A, Caruana Nikeisha J, Christians Uwe, Schniedewind Björn, Michel Cole R, Reisdorph Richard, Lopez Gonzalez Edwin D J, Brenner Charles, Donovan Tonia E, Lee Jessica C, Chatfield Kathryn C, Larson Austin A, Baker Peter R 2nd, McCandless Shawn E, Moore Burk Meghan F

Thiol-Mediated Enhancement of N(ε)-Acetyllysine Formation in Lens Proteins.

硫醇介导的晶状体蛋白中N(α)-乙酰赖氨酸形成的增强

Panja Sudipta, Nahomi Rooban B, Rankenberg Johanna, Michel Cole R, Nagaraj Ram H

Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts

UQCRFS1相关线粒体复合物III缺乏症和隐性GJA8相关白内障的双重诊断

Blue, Elizabeth E; Huang, Samuel J; Khan, Alyna; Golden-Grant, Katie; Boyd, Brenna; Rosenthal, Elisabeth A; Gillentine, Madelyn A; Fleming, Leah R; Adams, David R; Wolfe, Lynne; Allworth, Aimee; Bamshad, Michael J; Caruana, Nikeisha J; Chanprasert, Sirisak; Chen, Jingheng; Dargie, Nitsuh; Doherty, Daniel; Friederich, Marisa W; Hisama, Fuki M; Horike-Pyne, Martha; Lee, Jessica C; Donovan, Tonia E; Hock, Daniella H; Leppig, Kathleen A; Miller, Danny E; Mirzaa, Ghayda; Ranchalis, Jane; Raskind, Wendy H; Michel, Cole R; Reisdorph, Richard; Schwarze, Ulrike; Sheppeard, Sam; Strohbehn, Samuel; Stroud, David A; Sybert, Virginia P; Wener, Mark H; Stergachis, Andrew B; Lam, Christina T; Jarvik, Gail P; Dipple, Katrina M; Van Hove, Johan L K; Glass, Ian A