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

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

A tribute to Richard L. Maas (1954–2025)

谨以此文纪念理查德·L·马斯(1954–2025)

Tsay, M Y; Steet, Richard; Cummings, Richard D; Haghighi, Alireza; Lachke, Salil A; Frank, Natasha Y; Goessling, Wolfram; Cole, Philip A

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

A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction

SLC37A4基因突变会导致一种常染色体显性遗传的先天性糖基化障碍,其特征是肝功能障碍。

Ng, Bobby G; Sosicka, Paulina; Fenaille, François; Harroche, Annie; Vuillaumier-Barrot, Sandrine; Porterfield, Mindy; Xia, Zhi-Jie; Wagner, Shannon; Bamshad, Michael J; Vergnes-Boiteux, Marie-Christine; Cholet, Sophie; Dalton, Stephen; Dell, Anne; Dupré, Thierry; Fiore, Mathieu; Haslam, Stuart M; Huguenin, Yohann; Kumagai, Tadahiro; Kulik, Michael; McGoogan, Katherine; Michot, Caroline; Nickerson, Deborah A; Pascreau, Tiffany; Borgel, Delphine; Raymond, Kimiyo; Warad, Deepti; Flanagan-Steet, Heather; Steet, Richard; Tiemeyer, Michael; Seta, Nathalie; Bruneel, Arnaud; Freeze, Hudson H

Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiency

溶酶体胆固醇积累导致与 NUS1 单倍体不足相关的运动表型

Seok-Ho Yu, Tong Wang, Kali Wiggins, Raymond J Louie, Emilio F Merino, Cindy Skinner, Maria B Cassera, Kirsten Meagher, Paul Goldberg, Neggy Rismanchi, Dillon Chen, Michael J Lyons, Heather Flanagan-Steet, Richard Steet