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

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

Antenatal Presentation of MRPS22-Related Mitochondrial Disease Confirmed With Rapid Proteomics

快速蛋白质组学证实MRPS22相关线粒体疾病的产前表现

Semcesen, Liana N; Ball, Megan; Hock, Daniella H; Kaye, Juliet; Woods, Aimee; De Jong, Lucas; Christodoulou, John; Thorburn, David R; Compton, Alison G; Stroud, David A; Liebelt, Jan

Complex II assembly drives metabolic adaptation to OXPHOS dysfunction.

复合物 II 的组装驱动代谢适应氧化磷酸化功能障碍

Kugapreethan Roopasingam, Elahee Doomun Sheik Nadeem, Sacharz Joanna, Frazier Ann E, Sharma Tanavi, Low Yau Chung, Nie Shuai, Leeming Michael G, Muellner-Wong Linden, Last Karena, Stait Tegan, De Souza David P, Thorburn David R, McConville Malcolm J, Stroud David A

HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.

HMGCS1 变异体可导致脊柱僵硬综合征,在动物模型中可通过甲羟戊酸治疗治愈

Dofash Lein N H, Miles Lee B, Saito Yoshihiko, Rivas Eloy, Calcinotto Vanessa, Oveissi Sara, Serrano Rita J, Templin Rachel, Ramm Georg, Rodger Alison, Haywood Joel, Ingley Evan, Clayton Joshua S, Taylor Rhonda L, Folland Chiara L, Groth David, Hock Daniella H, Stroud David A, Gorokhova Svetlana, Donkervoort Sandra, Bönnemann Carsten G, Sud Malika, VanNoy Grace E, Mangilog Brian E, Pais Lynn, O'Donnell-Luria Anne, Madruga-Garrido Marcos, Scala Marcello, Fiorillo Chiara, Baratto Serena, Traverso Monica, Malfatti Edoardo, Bruno Claudio, Zara Federico, Paradas Carmen, Ogata Katsuhisa, Nishino Ichizo, Laing Nigel G, Bryson-Richardson Robert J, Cabrera-Serrano Macarena, Ravenscroft Gianina

Review: Utility of mass spectrometry in rare disease research and diagnosis

综述:质谱技术在罕见病研究和诊断中的应用

Zhao, Teresa; Hock, Daniella H; Pitt, James; Thorburn, David R; Stroud, David A; Christodoulou, John

HSD17β11 regulates PLIN5-ATGL mediated lipolysis, but not hepatic lipid metabolism in mice

HSD17β11 调节 PLIN5-ATGL 介导的脂肪分解,但不调节小鼠肝脏脂质代谢。

Keenan, Stacey N; Suriani, Natasha D; Fidelito, Gio; Bayliss, Jackie; Lou, Jieqiong; Solano, Ashleigh N; Sacharz, Joanna; Stroud, David A; Bezawork-Geleta, Ayenachew; Ooi, Geraldine; Burton, Paul R; Hinde, Elizabeth; Watt, Matthew J

CHD8 Variant and Rett Syndrome: Overlapping Phenotypes, Molecular Convergence, and Expanding the Genetic Spectrum.

CHD8 变异与雷特综合征:表型重叠、分子趋同和遗传谱的扩展

Zhang Elaine, Zhao Teresa, Sikora Tim, Ellaway Carolyn, Gold Wendy A, Van Bergen Nicole J, Stroud David A, Christodoulou John, Kaur Simranpreet

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