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

Glycogen synthase GYS1 overactivation contributes to glycogen insolubility and malto-oligoglucan-associated neurodegenerative disease

糖原合酶 GYS1 过度激活导致糖原不溶性和麦芽寡葡聚糖相关的神经退行性疾病

Silvia Nitschke, Alina P Montalbano, Megan E Whiting, Brandon H Smith, Neije Mukherjee-Roy, Charlotte R Marchioni, Mitchell A Sullivan, Xiaochu Zhao, Peixiang Wang, Howard Mount, Mayank Verma, Berge A Minassian, Felix Nitschke2

Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy

Laforin 将马林靶向至 Lafora 进行性肌阵挛性癫痫的糖原

Sharmistha Mitra, Baozhi Chen, Peixiang Wang, Erin E Chown, Mathew Dear, Dikran R Guisso, Ummay Mariam, Jun Wu, Emrah Gumusgoz, Berge A Minassian

Clinicopathologic Dissociation: Robust Lafora Body Accumulation in Malin KO Mice Without Observable Changes in Home-cage Behavior

临床病理分离:Malin KO 小鼠体内 Lafora 小体大量积聚,而笼养行为未发生明显变化

Vaishnav Krishnan, Jun Wu, Arindam Ghosh Mazumder, Jessica L Kamen, Catharina Schirmer, Nandani Adhyapak, John Samuel Bass, Samuel C Lee, Atul Maheshwari, Gemma Molinaro, Jay R Gibson, Kimberly M Huber, Berge A Minassian

Gys1 antisense therapy rescues neuropathological bases of murine Lafora disease

Gys1 反义疗法挽救了小鼠拉福拉病的神经病理学基础

Saija Ahonen, Silvia Nitschke, Tamar R Grossman, Holly Kordasiewicz, Peixiang Wang, Xiaochu Zhao, Dikran R Guisso, Sahba Kasiri, Felix Nitschke, Berge A Minassian

Ppp1r3d deficiency preferentially inhibits neuronal and cardiac Lafora body formation in a mouse model of the fatal epilepsy Lafora disease

Ppp1r3d 缺乏优先抑制致命性癫痫拉福拉病小鼠模型中的神经元和心脏拉福拉体形成

Lori Israelian, Silvia Nitschke, Peixiang Wang, Xiaochu Zhao, Ami M Perri, Jennifer P Y Lee, Brandy Verhalen, Felix Nitschke, Berge A Minassian

An inducible glycogen synthase-1 knockout halts but does not reverse Lafora disease progression in mice

诱导型糖原合酶-1 敲除可阻止但不能逆转小鼠拉福拉病的进展

Silvia Nitschke, Erin E Chown, Xiaochu Zhao, Shoghig Gabrielian, Sara Petković, Dikran R Guisso, Ami M Perri, Peixiang Wang, Saija Ahonen, Felix Nitschke, Berge A Minassian

SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease

SUCLA2 突变导致整体蛋白质琥珀酰化,导致遗传性线粒体疾病的发病机制

Philipp Gut, Sanna Matilainen, Jesse G Meyer, Pieti Pällijeff, Joy Richard, Christopher J Carroll, Liliya Euro, Christopher B Jackson, Pirjo Isohanni, Berge A Minassian, Reem A Alkhater, Elsebet Østergaard, Gabriele Civiletto, Alice Parisi, Jonathan Thevenet, Matthew J Rardin, Wenjuan He, Yuya Nishi

Exploiting the diphtheria toxin internalization receptor enhances delivery of proteins to lysosomes for enzyme replacement therapy

利用白喉毒素内化受体增强蛋白质向溶酶体的输送,用于酶替代疗法

Seiji N Sugiman-Marangos, Greg L Beilhartz, Xiaochu Zhao, Dongxia Zhou, Rong Hua, Peter K Kim, James M Rini, Berge A Minassian, Roman A Melnyk

Sensitive quantification of α-glucans in mouse tissues, cell cultures, and human cerebrospinal fluid

对小鼠组织、细胞培养物和人类脑脊液中的 α-葡聚糖进行灵敏定量分析

Silvia Nitschke, Sara Petković, Saija Ahonen, Berge A Minassian, Felix Nitschke

Sexually Divergent Mortality and Partial Phenotypic Rescue After Gene Therapy in a Mouse Model of Dravet Syndrome

Dravet 综合征小鼠模型中基因治疗后的性别差异死亡率和部分表型挽救

Yosuke Niibori, Shiron J Lee, Berge A Minassian, David R Hampson