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

Enhanced lysosomal exocytosis and altered growth factor signaling are associated with cartilage pathology in a model of mucopolysaccharidosis type IVA.

在粘多糖贮积症 IVA 型模型中,溶酶体胞吐作用增强和生长因子信号传导改变与软骨病理有关。

Lee Jen-Jie, Lu Po-Nien, Dukes-Rimsky Lynn, Jeter Chelsi, Colonna Maxwell B, Poplawski Andrzej B, Arno Gavin, Hallman Jenna, Underwood Christina, Basu Amrita, Pollard Laura, Weiss Ryan J, Steet Richard, Flanagan-Steet Heather

Characterization of a UQCRC1 variant in a patient with progressive weakness, pain and sleep issues reveals a functional mitochondrial defect restored by mitochondrial transplantation

对一名出现进行性虚弱、疼痛和睡眠障碍的患者的UQCRC1变异体进行表征,揭示了一种功能性线粒体缺陷,该缺陷可通过线粒体移植得到修复。

Piroli, Gerardo G; Myers, Rebecca; Holloway, Lynda; Hayek, Andrew; Linebaugh, Ellen; Jones, Julie R; Skinner, Cindy; Skinner, Steven A; Frizzell, Norma; Steet, Richard

A tribute to Stuart A. Kornfeld (1936–2025)

谨以此文纪念斯图尔特·A·科恩菲尔德(1936–2025)

Liu, Jiaxuan; Li, Haitao; Zeng, Bolun; Wang, Huixiang; Kikinis, Ron; Joskowicz, Leo; Chen, Xiaojun; Steet, Richard; Cummings, Richard D

Age-sensitive response of systemic AAV-mediated gene therapy in a newly characterized feline model of mucolipidosis II.

在新鉴定的猫粘脂病 II 型模型中,系统性 AAV 介导的基因治疗的年龄敏感性反应

Pyne Nettie K, Bagel Jessica, Shyng Charles, Odonnell Patricia, Miyadera Keiko, Srnak Jennifer, Swain Gary, Pesayco Jill P, Shelton G Diane, Assenmacher Charles-Antoine, Dickson Patricia, Stern Joshua A, Flanagan-Steet Heather, Gray Steven J, Bradbury Allison M

A Drosophila model of mucopolysaccharidosis IIIB.

粘多糖贮积症 IIIB 的果蝇模型

Simkhada Bibhu, Nazario-Yepiz Nestor O, Freymuth Patrick S, Lyman Rachel A, Shankar Vijay, Wiggins Kali, Flanagan-Steet Heather, Basu Amrita, Weiss Ryan J, Anholt Robert R H, Mackay Trudy F C

Lysosomal free sialic acid storage disorder iPSC-derived neural cells display altered glycosphingolipid metabolism

溶酶体游离唾液酸贮积症患者的诱导多能干细胞衍生神经细胞表现出糖鞘脂代谢异常

Sabir, Marya S; Jovanovic, Vukasin M; Ryu, Seungmi; Sen, Chaitali; Ormanoglu, Pinar; Pollard, Laura; Steet, Richard; Gahl, William A; Huizing, Marjan; Tristan, Carlos A; Platt, Frances M; Malicdan, May Christine V

O-GlcNAcylation modulates expression and abundance of N-glycosylation machinery in an inherited glycosylation disorder

O-GlcNAc糖基化修饰调节遗传性糖基化障碍中N-糖基化机制的表达和丰度

Courtney Matheny-Rabun ,Sneha S Mokashi ,Silvia Radenkovic ,Kali Wiggins ,Lynn Dukes-Rimsky ,Peggi Angel ,Bart Ghesquiere ,Tamas Kozicz ,Richard Steet ,Eva Morava ,Heather Flanagan-Steet

Functional assessment of IDUA variants of uncertain significance identified by newborn screening

对新生儿筛查中发现的意义未明的IDUA变异进行功能评估

Yu, Seok-Ho; Kubaski, Francyne; Arno, Gavin; Phinney, Whitney; Wood, Tim C; Flanagan-Steet, Heather; Pollard, Laura M; Steet, Richard

Dysregulated lysosomal exocytosis drives protease-mediated cartilage pathogenesis in multiple lysosomal disorders

溶酶体胞吐失调导致多种溶酶体疾病中蛋白酶介导的软骨发病机制

Jen-Jie Lee, Tong Wang, Kali Wiggins, Po Nien Lu, Christina Underwood, Katarzyna Ochenkowska, Eric Samarut, Laura M Pollard, Heather Flanagan-Steet, Richard Steet

Multi-omic analysis of a mucolipidosis II neuronal cell model uncovers involvement of pathways related to neurodegeneration and drug metabolism.

对粘脂病 II 型神经元细胞模型的多组学分析揭示了与神经退行性变和药物代谢相关的通路参与其中

Badenetti Lorenzo, Yu Seok-Ho, Colonna Maxwell B, Hull Rony, Bethard Jennifer R, Ball Lauren, Flanagan-Steet Heather, Steet Richard