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

Pyroxd1 is essential for murine viability with the homozygous N155S recurrent variant linked to myopathy, muscle hypotrophy and osteopenia.

Pyroxd1 对小鼠的生存至关重要,纯合 N155S 复发性变异与肌病、肌肉萎缩和骨质减少有关。

Evesson Frances J, Dziaduch Gregory, Yasa Joe, Best Heather A, Kiriaev Leonit, Pang Ignatius, Jones Vanessa, Kettle Emma, Zhang Katharine, Piper Ann-Katrin, Wark Jesse R, Scott Isaac, Joshi Himanshu, Sutton R Bryan, Tam Patrick P L, Houweling Peter J, Graham Mark E, Yuen Michaela, Lemcket Frances A, Cooper Sandra T

Early-onset systemic lupus erythematosus-ANCA-associated vasculitis overlap syndrome caused by DNASE1L3 deficiency

由DNASE1L3缺陷引起的早发性系统性红斑狼疮-ANCA相关性血管炎重叠综合征

Triaille, Clément; Makita, Sohei; Côté, Kévin; Benoit, Geneviève; Campeau, Philippe M; De Bruycker, Jean Jacques; Ra, Ai; McCord, Jon J; Sayasith, Khampoun; Sutton, R Bryan; Touzot, Fabien; Haddad, Elie; Reizis, Boris; Morin, Marie-Paule

The AD3 locus of synaptotagmin-1 C2 domains modulates domain stability

突触结合蛋白-1 C2结构域的AD3位点调节结构域稳定性

Dominguez, Matthew J; Bui, Anthony A; Villarreal, Johanna; Snow, Adam; Karmakar, Souvic; Harsini, Faraz M; Rock, Patrick J; Rice, Anne M; Fuson, Kerry L; Sutton, R Bryan

Pathogenic Mutations in the C2A Domain of Dysferlin form Amyloid that Activates the Inflammasome

肌营养不良蛋白C2A结构域的致病性突变形成淀粉样蛋白,进而激活炎症小体。

Scott, Isaac L; Dominguez, Matthew J; Snow, Adam; Harsini, Faraz M; Williams, Justin; Fuson, Kerry L; Thapa, Roshan; Bhattacharjee, Pushpak; Cornwall, Gail A; Keyel, Peter A; Sutton, R Bryan

Redefining the architecture of ferlin proteins: Insights into multi-domain protein structure and function

重新定义ferlin蛋白的结构:深入了解多结构域蛋白的结构和功能

Dominguez, Matthew J; McCord, Jon J; Sutton, R Bryan

A unique C2 domain at the C terminus of Munc13 promotes synaptic vesicle priming

Munc13 C 末端的独特 C2 结构域促进突触小泡启动

Padmanarayana, Murugesh; Liu, Haowen; Michelassi, Francesco; Li, Lei; Betensky, Daniel; Dominguez, Matthew J; Sutton, R Bryan; Hu, Zhitao; Dittman, Jeremy S

Maturation of the functional mouse CRES amyloid from globular form

功能性小鼠CRES淀粉样蛋白从球状形式成熟

Hewetson, Aveline; Khan, Nazmul H; Dominguez, Matthew J; Do, Hoa Quynh; Kusko, R E; Borcik, Collin G; Rigden, Daniel J; Keegan, Ronan M; Sutton, R Bryan; Latham, Michael P; Wylie, Benjamin J; Cornwall, Gail A

Functional analysis of a species-specific inhibitor selective for human Na+-coupled citrate transporter (NaCT/SLC13A5/mINDY)

对人钠离子偶联柠檬酸转运蛋白(NaCT/SLC13A5/mINDY)选择性物种特异性抑制剂的功能分析

Higuchi, Kei; Kopel, Jonathan J; Sivaprakasam, Sathish; Jaramillo-Martinez, Valeria; Sutton, R Bryan; Urbatsch, Ina L; Ganapathy, Vadivel

Structural Basis for the Distinct Membrane Binding Activity of the Homologous C2A Domains of Myoferlin and Dysferlin

肌球蛋白和肌营养不良蛋白同源C2A结构域不同膜结合活性的结构基础

Harsini, Faraz M; Bui, Anthony A; Rice, Anne M; Chebrolu, Sukanya; Fuson, Kerry L; Turtoi, Andrei; Bradberry, Mazdak; Chapman, Edwin R; Sutton, R Bryan

FerA is a Membrane-Associating Four-Helix Bundle Domain in the Ferlin Family of Membrane-Fusion Proteins

FerA是Ferlin膜融合蛋白家族中的一种膜相关四螺旋束结构域。

Harsini, Faraz M; Chebrolu, Sukanya; Fuson, Kerry L; White, Mark A; Rice, Anne M; Sutton, R Bryan