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

Dominant NARS1 mutations causing axonal Charcot-Marie-Tooth disease expand NARS1-associated diseases

导致轴突型夏科-马里-图斯病(Charcot-Marie-Tooth disease)的显性NARS1突变扩大了NARS1相关疾病的范围。

Beijer, Danique; Marte, Sheila; Li, Jiaxin C; De Ridder, Willem; Chen, Jessie Z; Tadenev, Abigail L D; Miers, Kathy E; Deconinck, Tine; Macdonell, Richard; Marques, Wilson Jr; De Jonghe, Peter; Pratt, Samia L; Meyer-Schuman, Rebecca; Züchner, Stephan; Antonellis, Anthony; Burgess, Robert W; Baets, Jonathan

Lack of effect from genetic deletion of Hdac6 in a humanized mouse model of CMT2D.

在人源化 CMT2D 小鼠模型中,Hdac6 基因缺失没有产生影响

Tadenev Abigail L D, Hatton Courtney L, Burgess Robert W

Misregulation of mitochondria-lysosome contact dynamics in Charcot-Marie-Tooth Type 2B disease Rab7 mutant sensory peripheral neurons

夏科-马里-图斯病2B型Rab7突变感觉周围神经元中线粒体-溶酶体接触动力学的失调

Wong, Yvette C; Jayaraj, Nirupa D; Belton, Tayler B; Shum, George C; Ball, Hannah E; Ren, Dongjun; Tadenev, Abigail L D; Krainc, Dimitri; Burgess, Robert W; Menichella, Daniela M

An allelic series of spontaneous Rorb mutant mice exhibit a gait phenotype, changes in retina morphology and behavior, and gene expression signatures associated with the unfolded protein response

一系列自发的 Rorb 突变小鼠表现出步态表型、视网膜形态和行为的变化以及与未折叠蛋白反应相关的基因表达特征

George C Murray, Jason A Bubier, Oraya J Zinder, Belinda Harris, James Clark, Mia-Cara Christopher, Courtany Hanley, Harianto Tjong, Meihong Li, Chew Yee Ngan, Laura Reinholdt, Robert W Burgess, Abigail L D Tadenev

Testing SIPA1L2 as a modifier of CMT1A using mouse models

利用小鼠模型测试SIPA1L2作为CMT1A修饰因子的作用

Murray, George C; Hines, Timothy J; Tadenev, Abigail L D; Xu, Isaac; Züchner, Stephan; Burgess, Robert W

Mouse models of NADK2 deficiency analyzed for metabolic and gene expression changes to elucidate pathophysiology

分析 NADK2 缺乏症小鼠模型的代谢和基因表达变化,以阐明病理生理学

G C Murray, P Bais, C L Hatton, A L D Tadenev, B R Hoffmann, T J Stodola, K H Morelli, S L Pratt, D Schroeder, R Doty, O Fiehn, S W M John, C J Bult, G A Cox, R W Burgess

Precision mouse models of Yars/dominant intermediate Charcot-Marie-Tooth disease type C and Sptlc1/hereditary sensory and autonomic neuropathy type 1

Yars/显性中间型腓骨肌萎缩症 C 型和 Sptlc1/遗传性感觉和自主神经病变 1 型的精密小鼠模型

Timothy J Hines, Abigail L D Tadenev, Museer A Lone, Courtney L Hatton, Inseyah Bagasrawala, Morgane G Stum, Kathy E Miers, Thorsten Hornemann, Robert W Burgess

The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy

整合应激反应会导致tRNA合成酶相关的周围神经病变。

Spaulding, E L; Hines, T J; Bais, P; Tadenev, A L D; Schneider, R; Jewett, D; Pattavina, B; Pratt, S L; Morelli, K H; Stum, M G; Hill, D P; Gobet, C; Pipis, M; Reilly, M M; Jennings, M J; Horvath, R; Bai, Y; Shy, M E; Alvarez-Castelao, B; Schuman, E M; Bogdanik, L P; Storkebaum, E; Burgess, R W

tRNA overexpression rescues peripheral neuropathy caused by mutations in tRNA synthetase

tRNA 过表达可挽救由 tRNA 合成酶突变引起的周围神经病变

Zuko, Amila; Mallik, Moushami; Thompson, Robin; Spaulding, Emily L; Wienand, Anne R; Been, Marije; Tadenev, Abigail L D; van Bakel, Nick; Sijlmans, Céline; Santos, Leonardo A; Bussmann, Julia; Catinozzi, Marica; Das, Sarada; Kulshrestha, Divita; Burgess, Robert W; Ignatova, Zoya; Storkebaum, Erik

Genetic analysis of Pycr1 and Pycr2 in mice

小鼠 Pycr1 和 Pycr2 的基因分析

Morgane G Stum, Abigail L D Tadenev, Kevin L Seburn, Kathy E Miers, Pak P Poon, Christopher R McMaster, Carolyn Robinson, Coleen Kane, Kathleen A Silva, Paul F Cliften, John P Sundberg, Laura G Reinholdt, Simon W M John, Robert W Burgess