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

Senataxin helicase, the causal gene defect in ALS4, is a significant modifier of C9orf72 ALS G4C2 and arginine-containing dipeptide repeat toxicity

Senataxin 解旋酶是 ALS4 中的致病基因缺陷,是 C9orf72 ALS G4C2 和含精氨酸二肽重复毒性的重要修饰因子

Craig L Bennett, Somasish Dastidar, Frederick J Arnold, Spencer U McKinstry, Cameron Stockford, Brian D Freibaum, Bryce L Sopher, Meilin Wu, Glen Seidner, William Joiner, J Paul Taylor, Ryan J H West #, Albert R La Spada #

MAP4K3 inhibits Sirtuin-1 to repress the LKB1-AMPK pathway to promote amino acid-dependent activation of the mTORC1 complex

MAP4K3 抑制 Sirtuin-1,从而抑制 LKB1-AMPK 通路,促进氨基酸依赖性的 mTORC1 复合物激活

Mary Rose Branch, Cynthia L Hsu, Kohta Ohnishi, Wen-Chuan Shen, Elian Lee, Jill Meisenhelder, Brett Winborn, Bryce L Sopher, J Paul Taylor, Tony Hunter, Albert R La Spada

Altered H3 histone acetylation impairs high-fidelity DNA repair to promote cerebellar degeneration in spinocerebellar ataxia type 7

组蛋白H3乙酰化异常会损害高保真DNA修复,从而促进脊髓小脑性共济失调7型的小脑变性

Pawel M Switonski ,Joe R Delaney ,Luke C Bartelt ,Chenchen Niu ,Maria Ramos-Zapatero ,Nathanael J Spann ,Akshay Alaghatta ,Toby Chen ,Emily N Griffin ,Jaidev Bapat ,Bryce L Sopher ,Albert R La Spada

4E-BP1 Protects Neurons from Misfolded Protein Stress and Parkinson's Disease Toxicity by Inducing the Mitochondrial Unfolded Protein Response

4E-BP1通过诱导线粒体未折叠蛋白反应来保护神经元免受错误折叠蛋白应激和帕金森病毒性的影响。

Somasish Ghosh Dastidar ,Michael T Pham ,Matthew B Mitchell ,Steven G Yeom ,Sarah Jordan ,Angela Chang ,Bryce L Sopher ,Albert R La Spada

Tight expression regulation of senataxin, linked to motor neuron disease and ataxia, is required to avert cell-cycle block and nucleolus disassembly

与运动神经元疾病和共济失调有关的 senataxin 的严格表达调控是避免细胞周期阻滞和核仁解体所必需的

Craig L Bennett, Bryce L Sopher, Albert R La Spada

Metabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial Disease

小鼠和人类患者的代谢和细胞器形态缺陷将脊髓小脑共济失调 7 型定义为线粒体疾病

Jacqueline M Ward, Colleen A Stoyas, Pawel M Switonski, Farid Ichou, Weiwei Fan, Brett Collins, Christopher E Wall, Isaac Adanyeguh, Chenchen Niu, Bryce L Sopher, Chizuru Kinoshita, Richard S Morrison, Alexandra Durr, Alysson R Muotri, Ronald M Evans, Fanny Mochel, Albert R La Spada

Astroglial-targeted expression of the fragile X CGG repeat premutation in mice yields RAN translation, motor deficits and possible evidence for cell-to-cell propagation of FXTAS pathology

小鼠中脆性 X CGG 重复前突变的星形胶质细胞靶向表达产生 RAN 翻译、运动障碍以及 FXTAS 病理细胞间传播的可能证据

H Jürgen Wenzel, Karl D Murray, Saif N Haify, Michael R Hunsaker, Jared J Schwartzer, Kyoungmi Kim, Albert R La Spada, Bryce L Sopher, Paul J Hagerman, Christopher Raske, Lies-Anne W F M Severijnen, Rob Willemsen, Renate K Hukema, Robert F Berman

Neuronal susceptibility to beta-amyloid toxicity and ischemic injury involves histone deacetylase-2 regulation of endophilin-B1

神经元对β-淀粉样蛋白毒性和缺血性损伤的敏感性涉及组蛋白去乙酰化酶-2对内皮素-B1的调节

David B Wang, Chizuru Kinoshita, Yoshito Kinoshita, Bryce L Sopher, Takuma Uo, Rona J Lee, Joon Kyu Kim, Sean P Murphy, C Dirk Keene, Gwenn A Garden, Richard S Morrison

Selective modulation of the androgen receptor AF2 domain rescues degeneration in spinal bulbar muscular atrophy

选择性调节雄激素受体 AF2 结构域可挽救脊髓延髓肌萎缩症的退化

Nisha M Badders, Ane Korff, Helen C Miranda, Pradeep K Vuppala, Rebecca B Smith, Brett J Winborn, Emmanuelle R Quemin, Bryce L Sopher, Jennifer Dearman, James Messing, Nam Chul Kim, Jennifer Moore, Brian D Freibaum, Anderson P Kanagaraj, Baochang Fan, Heather Tillman, Ping-Chung Chen, Yingzhe Wang, 

Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients

Senataxin 突变引起运动神经元变性表型,并在 ALS4 小鼠和人类患者中导致 TDP-43 错误定位

Craig L Bennett, Somasish G Dastidar, Shuo-Chien Ling, Bilal Malik, Travis Ashe, Mandheer Wadhwa, Derek B Miller, Changwoo Lee, Matthew B Mitchell, Michael A van Es, Christopher Grunseich, Yingzhang Chen, Bryce L Sopher, Linda Greensmith, Don W Cleveland, Albert R La Spada