DOCK3-Associated Neurodevelopmental Disorder-Clinical Features and Molecular Basis.
DOCK3-Associated Neurodevelopmental Disorder-Clinical Features and Molecular Basis.
复制标题
DOI：
10.3390/genes14101940
复制
发表时间：
2023-10-14
期刊：
影响因子：
3.5
通讯作者：
Velinov, Milen
中科院分区：
文献类型：
--
作者：
Alexander, Matthew S.;Velinov, Milen
DOCK 3的蛋白产物在神经元中高度表达，并通过其与肌动蛋白细胞骨架和关键细胞信号分子的相互作用在细胞粘附和神经元生长中起作用。DOCK3蛋白是细胞正常生长和迁移所必需的。DOCK3的双等位基因变异与该基因功能的完全或部分丧失有关，最近在6名智力残疾和肌肉张力减退的患者中报道。报告的患者中只有1例存在CNS以外的先天性畸形。需要进一步研究以更好地确定DOCK 3相关神经发育障碍的患病率和这些患者中非CNS临床表现的频率。由于DOCK3蛋白产物的缺陷现在是这种神经发育状况的既定途径，因此使用基因治疗方法补充缺陷基因产物可能是有效的治疗策略。
The protein product of DOCK3 is highly expressed in neurons and has a role in cell adhesion and neuronal outgrowth through its interaction with the actin cytoskeleton and key cell signaling molecules. The DOCK3 protein is essential for normal cell growth and migration. Biallelic variants in DOCK3 associated with complete or partial loss of function of the gene were recently reported in six patients with intellectual disability and muscle hypotonia. Only one of the reported patients had congenital malformations outside of the CNS. Further studies are necessary to better determine the prevalence of DOCK3-associated neurodevelopmental disorders and the frequency of non-CNS clinical manifestations in these patients. Since deficiency of the DOCK3 protein product is now an established pathway of this neurodevelopmental condition, supplementing the deficient gene product using a gene therapy approach may be an efficient treatment strategy.
登录
查看更多内容
影响因子：
64.8
作者：
Jumper J;Evans R;Pritzel A;Green T;Figurnov M;Ronneberger O;Tunyasuvunakool K;Bates R;Žídek A;Potapenko A;Bridgland A;Meyer C;Kohl SAA;Ballard AJ;Cowie A;Romera-Paredes B;Nikolov S;Jain R;Adler J;Back T;Petersen S;Reiman D;Clancy E;Zielinski M;Steinegger M;Pacholska M;Berghammer T;Bodenstein S;Silver D;Vinyals O;Senior AW;Kavukcuoglu K;Kohli P;Hassabis D
通讯作者：
Hassabis D
影响因子：
16.6
作者：
Tran, Viviane;Nahle, Sarah;Robert, Amelie;Desanlis, Ines;Killoran, Ryan;Ehresmann, Sophie;Thibault, Marie-Pier;Barford, David;Ravichandran, Kodi S.;Sauvageau, Martin;Smith, Matthew J.;Kmita, Marie;Cote, Jean-Francois
通讯作者：
Cote, Jean-Francois
DOI：
10.1523/jneurosci.3985-08.2009
发表时间：
2009-01-07
期刊：
The Journal of neuroscience : the official journal of the Society for Neuroscience
影响因子：
--
作者：
Chen Q;Peto CA;Shelton GD;Mizisin A;Sawchenko PE;Schubert D
通讯作者：
Schubert D
影响因子：
15.9
作者：
Alexander, Matthew S.;Carlos Casar, Juan;Kunkel, Louis M.
通讯作者：
Kunkel, Louis M.
影响因子：
23.9
作者：
Kann, Allison P.;Hung, Margaret;Wang, Wei;Nguyen, Jo;Gilbert, Penney M.;Wu, Zhuhao;Krauss, Robert S.
通讯作者：
Krauss, Robert S.