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

An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants

少突胶质细胞沉默元件是层粘蛋白B1结构变异致病作用的基础。

Nmezi, Bruce; Rodriguez Bey, Guillermo; Oranburg, Talia DeFrancesco; Dudnyk, Kseniia; Lardo, Santana M; Herdman, Nathan; Jacko, Anastasia; Rubio, Sandy; Loeza-Alcocer, Emanuel; Kofler, Julia; Kim, Dongkyeong; Rankin, Julia; Kivuva, Emma; Gutowski, Nicholas; Schon, Katherine; van den Ameele, Jelle; Chinnery, Patrick F; Sousa, Sérgio B; Palavra, Filipe; Toro, Camilo; Pinto E Vairo, Filippo; Saute, Jonas; Pan, Lisa; Alturkustani, Murad; Hammond, Robert; Gros-Louis, Francois; Gold, Michael S; Park, Yungki; Bernard, Geneviève; Raininko, Raili; Zhou, Jian; Hainer, Sarah J; Padiath, Quasar S

A high throughput, high content screen for non-toxic small molecules that reduce levels of the nuclear lamina protein, Lamin B1

一种高通量、高内涵的筛选方法,用于筛选能够降低核纤层蛋白 Lamin B1 水平的无毒小分子。

Laura L Vollmer ,Fang Liu ,Bruce Nmezi ,Guillermo Rodriguez Bey ,Nathan Herdman ,Tong Ying Shun ,Albert Gough ,Ruiting Liu ,Peter Wipf ,Timothy R Lezon ,Quasar S Padiath ,Andreas Vogt

Understanding the Ultra-Rare Disease Autosomal Dominant Leukodystrophy: an Updated Review on Morpho-Functional Alterations Found in Experimental Models

了解罕见病常染色体显性遗传性脑白质营养不良:实验模型中发现的形态功能改变的最新综述

Neri, Irene; Ramazzotti, Giulia; Mongiorgi, Sara; Rusciano, Isabella; Bugiani, Marianna; Conti, Luciano; Cousin, Margot; Giorgio, Elisa; Padiath, Quasar S; Vaula, Giovanna; Cortelli, Pietro; Manzoli, Lucia; Ratti, Stefano

LMNB1 Duplication-Mediated Autosomal Dominant Adult-Onset Leukodystrophy in an Indian Family

印度家族中由LMNB1基因重复介导的常染色体显性遗传成人发病型脑白质营养不良症

Bijarnia-Mahay, Sunita; Roy, Gaurav; Padiath, Quasar S; Saxena, Renu; Verma, Ishwar Chander

Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study

ATP1A3相关综合征的心脏表型:一项多中心队列研究

Balestrini, Simona; Mikati, Mohamad A; Álvarez-García-Rovés, Reyes; Carboni, Michael; Hunanyan, Arsen S; Kherallah, Bassil; McLean, Melissa; Prange, Lyndsey; De Grandis, Elisa; Gagliardi, Alessandra; Pisciotta, Livia; Stagnaro, Michela; Veneselli, Edvige; Campistol, Jaume; Fons, Carmen; Pias-Peleteiro, Leticia; Brashear, Allison; Miller, Charlotte; Samões, Raquel; Brankovic, Vesna; Padiath, Quasar S; Potic, Ana; Pilch, Jacek; Vezyroglou, Aikaterini; Bye, Ann M E; Davis, Andrew M; Ryan, Monique M; Semsarian, Christopher; Hollingsworth, Georgina; Scheffer, Ingrid E; Granata, Tiziana; Nardocci, Nardo; Ragona, Francesca; Arzimanoglou, Alexis; Panagiotakaki, Eleni; Carrilho, Inês; Zucca, Claudio; Novy, Jan; Dzieżyc, Karolina; Parowicz, Marek; Mazurkiewicz-Bełdzińska, Maria; Weckhuysen, Sarah; Pons, Roser; Groppa, Sergiu; Sinden, Daniel S; Pitt, Geoffrey S; Tinker, Andrew; Ashworth, Michael; Michalak, Zuzanna; Thom, Maria; Cross, J Helen; Vavassori, Rosaria; Kaski, Juan P; Sisodiya, Sanjay M

Development and Optimization of a High-Content Analysis Platform to Identify Suppressors of Lamin B1 Overexpression as a Therapeutic Strategy for Autosomal Dominant Leukodystrophy

开发和优化高内涵分析平台以识别层蛋白 B1 过度表达的抑制因子作为常染色体显性白质营养不良的治疗策略

Bruce Nmezi, Laura L Vollmer, Tong Ying Shun, Albert Gough, Harshvardhan Rolyan, Fang Liu, Yumeng Jia, Quasar S Padiath, Andreas Vogt

Autosomal Dominant Leukodystrophy: A Disease of the Nuclear Lamina

常染色体显性遗传性脑白质营养不良:一种核纤层疾病

Padiath, Quasar S

Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy

层粘蛋白B1上游的基因组缺失会导致非典型常染色体显性遗传性脑白质营养不良

Nmezi, Bruce; Giorgio, Elisa; Raininko, Raili; Lehman, Anna; Spielmann, Malte; Koenig, Mary Kay; Adejumo, Rahmat; Knight, Melissa; Gavrilova, Ralitza; Alturkustani, Murad; Sharma, Manas; Hammond, Robert; Gahl, William A; Toro, Camilo; Brusco, Alfredo; Padiath, Quasar S

Concentric organization of A- and B-type lamins predicts their distinct roles in the spatial organization and stability of the nuclear lamina

型和 B 型层蛋白的同心组织预示着它们在核层的空间组织和稳定性中的不同作用

Bruce Nmezi, Jianquan Xu, Rao Fu, Travis J Armiger, Guillermo Rodriguez-Bey, Juliana S Powell, Hongqiang Ma, Mara Sullivan, Yiping Tu, Natalie Y Chen, Stephen G Young, Donna B Stolz, Kris Noel Dahl, Yang Liu, Quasar S Padiath

Lamin B1 mediated demyelination: Linking Lamins, Lipids and Leukodystrophies

层粘蛋白B1介导的脱髓鞘:层粘蛋白、脂质和脑白质营养不良症之间的联系

Padiath, Quasar S