Emerging concepts underlying selective neuromuscular dysfunction in infantile-onset spinal muscular atrophy.
Emerging concepts underlying selective neuromuscular dysfunction in infantile-onset spinal muscular atrophy.
复制标题
婴儿性脊柱肌肉萎缩的选择性神经肌肉功能障碍的基础的新兴概念。
DOI：
10.4103/1673-5374.308073
复制
发表时间：
2021-10
影响因子：
6.1
通讯作者：
Monani UR
中科院分区：
文献类型：
--
作者：
Gollapalli K;Kim JK;Monani UR
婴儿发病的脊髓性肌萎缩症是一种以神经退行性表型为主的疾病的典型例子，但其根源是管家蛋白的扰动。由于运动神经元存活（SMN）蛋白水平低，脊髓性肌萎缩症主要表现为下运动神经元疾病。为什么会出现这种情况以及其他细胞类型是否会导致经典的脊髓性肌萎缩症表型仍然是深入研究的主题，并且现在才得到重视。然而，正在出现的情况有时既令人费解，又具有启发性，要求仔细重新审查最近的研究结果，提出对该领域既定教条的质疑，并提出更多关注轻度脊髓性肌萎缩模型的理由，将其作为确定导致该疾病选择性神经肌肉功能障碍的关键机制的工具。这篇综述检查了最近与脊髓性肌萎缩症有关的新分子和细胞机制的证据，强调了突破，指出了警告并提出了应该作为新研究基础的问题，以更好地理解和治疗这种疾病和其他更常见的神经退行性疾病。
Infantile-onset spinal muscular atrophy is the quintessential example of a disorder characterized by a predominantly neurodegenerative phenotype that nevertheless stems from perturbations in a housekeeping protein. Resulting from low levels of the Survival of Motor Neuron (SMN) protein, spinal muscular atrophy manifests mainly as a lower motor neuron disease. Why this is so and whether other cell types contribute to the classic spinal muscular atrophy phenotype continue to be the subject of intense investigation and are only now gaining appreciation. Yet, what is emerging is sometimes as puzzling as it is instructive, arguing for a careful re-examination of recent study outcomes, raising questions about established dogma in the field and making the case for a greater focus on milder spinal muscular atrophy models as tools to identify key mechanisms driving selective neuromuscular dysfunction in the disease. This review examines the evidence for novel molecular and cellular mechanisms that have recently been implicated in spinal muscular atrophy, highlights breakthroughs, points out caveats and poses questions that ought to serve as the basis of new investigations to better understand and treat this and other more common neurodegenerative disorders.
登录
查看更多内容
影响因子：
4.9
作者：
Boyer, Justin G.;Murray, Lyndsay M.;Kothary, Rashmi
通讯作者：
Kothary, Rashmi
影响因子：
11.2
作者：
Bowerman, Melissa;Swoboda, Kathryn J.;Michalski, John-Paul;Wang, Gen-Sheng;Reeks, Courtney;Beauvais, Ariane;Murphy, Kelley;Woulfe, John;Screaton, Robert A.;Scott, Fraser W.;Kothary, Rashmi
通讯作者：
Kothary, Rashmi
影响因子：
5.3
作者：
Deguise, Marc-Olivier;Baranello, Giovanni;Kothary, Rashmi
通讯作者：
Kothary, Rashmi
影响因子：
3.5
作者：
Coovert, DD;Le, TT;Burghes, AHM
通讯作者：
Burghes, AHM
影响因子：
25
作者：
Fletcher EV;Simon CM;Pagiazitis JG;Chalif JI;Vukojicic A;Drobac E;Wang X;Mentis GZ
通讯作者：
Mentis GZ