Fukuyama-type congenital muscular dystrophy and defective glycosylation of α-dystroglycan
Fukuyama-type congenital muscular dystrophy and defective glycosylation of α-dystroglycan
复制标题
DOI：
10.1186/2044-5040-1-22
复制
发表时间：
2011-06-01
期刊：
影响因子：
4.9
通讯作者：
Matsumura K
中科院分区：
文献类型：
--
作者：
Saito F;Matsumura K
福山型先天性肌营养不良症（FCMD）是一种严重的肌营养不良症，伴有眼睛和大脑的异常。FCMD在日本人群中的发病率特别高。已在FCMD患者中鉴定出fuklidine基因突变。推测它是高尔基体的常驻蛋白，参与细胞表面蛋白的翻译后修饰。近年来，我们对fuketamine基因突变导致FCMD表型的分子机制的理解取得了进展。fuklavin功能丧失导致α-肌营养不良蛋白聚糖（肌营养不良蛋白-糖蛋白复合物的中心组分）糖基化缺陷，导致基底膜和细胞骨架之间的连接破坏。这种破坏与FCMD中MD和脑异常的发病机制有关。此外，遗传分析显示FCMD表型的谱比最初认为的要宽得多。本文就FCMD的临床表现及其分子病理机制作一综述。
Fukuyama-type congenital muscular dystrophy (FCMD) is a severe form of muscular dystrophy accompanied by abnormalities in the eye and brain. The incidence of FCMD is particularly high in the Japanese population. Mutations in the fukutin gene have been identified in patients with FCMD. Fukutin is predicted to be a Golgi apparatus resident protein and to be involved in the post-translational modification of cell-surface proteins. Recently, progress has been made in our understanding of the molecular mechanisms by which the mutation of fukutin leads to the phenotype of FCMD. Loss of function of fukutin results in defective glycosylation of α-dystroglycan, a central component of the dystrophin-glycoprotein complex, leading to disruption of the linkage between basal lamina and cytoskeleton. This disruption is implicated in the pathogenesis of both the MD and brain anomalies in FCMD. Furthermore, genetic analyses have revealed that the spectrum of the FCMD phenotype is much wider than originally thought. In this review, we summarize the diverging clinical phenotype of FCMD and its molecular pathomechanisms.
登录
查看更多内容
影响因子：
3.5
作者：
Esapa, CT;Benson, MA;Blake, DJ
通讯作者：
Blake, DJ
影响因子：
5.3
作者：
Satz, Jakob S.;Barresi, Rita;Campbell, Kevin P.
通讯作者：
Campbell, Kevin P.
胶质细胞和神经元肌营养不良聚糖在发育中和成年小鼠大脑中的独特功能。
DOI：
10.1523/jneurosci.3247-10.2010
发表时间：
2010-10-27
期刊：
The Journal of neuroscience : the official journal of the Society for Neuroscience
影响因子：
--
作者：
Satz JS;Ostendorf AP;Hou S;Turner A;Kusano H;Lee JC;Turk R;Nguyen H;Ross-Barta SE;Westra S;Hoshi T;Moore SA;Campbell KP
通讯作者：
Campbell KP
影响因子：
64.8
作者：
Michele, DE;Barresi, R;Campbell, KP
通讯作者：
Campbell, KP
影响因子：
9.8
作者：
Brockington, M;Blake, DJ;Muntoni, F
通讯作者：
Muntoni, F