In Vitro and In Vivo Modeling of Spinal and Bulbar Muscular Atrophy
In Vitro and In Vivo Modeling of Spinal and Bulbar Muscular Atrophy
复制标题
脊髓和延髓肌萎缩的体外和体内建模
DOI：
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发表时间：
2015
影响因子：
3.1
通讯作者：
M. Basso
中科院分区：
文献类型：
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作者：
M. Pennuto;M. Basso
脊髓延髓肌萎缩症（SBMA）是一种X连锁神经肌肉疾病，其特征是迟发性、进行性下运动神经元变性和骨骼肌萎缩。SBMA是由编码雄激素受体（AR）的基因中CAG三核苷酸重复扩增引起的。SBMA的一个显著特征是性别特异性：SBMA仅在男性中完全表现，而女性即使在突变纯合子时也表现出亚临床或轻度疾病表现。自1991年确定了导致SBMA的突变以来，已经开发了几种细胞和动物模型来概括体外和体内疾病的主要特征。在这篇综述中，我们描述了最广泛使用的细胞和动物模型的SBMA，突出的优点和缺点，在使用这些模型来获得机制和治疗的见解SBMA。
Spinal and bulbar muscular atrophy (SBMA) is an X-linked neuromuscular disease characterized by late-onset, progressive degeneration of lower motor neurons and skeletal muscle atrophy. SBMA is caused by expansions of a CAG trinucleotide repeat in the gene encoding the androgen receptor (AR). One striking feature of SBMA is sex specificity: SBMA fully manifests only in males, whereas females show subclinical or mild disease manifestations even when homozygous for the mutation. Since the identification of the mutation responsible for SBMA in 1991, several cell and animal models have been developed to recapitulate the main features of disease in vitro and in vivo. In this review, we describe the most widely used cellular and animal models of SBMA, highlighting advantages and disadvantages in the use of these models to gain mechanistic and therapeutic insights into SBMA.
影响因子：
3.4
作者：
H. Durham;S. Dahrouge;N. Cashman
通讯作者：
H. Durham;S. Dahrouge;N. Cashman