Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.
Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.
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DOI：
10.1016/j.gde.2011.01.003
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发表时间：
2011-06
影响因子：
4
通讯作者：
Engle, Elizabeth C.
中科院分区：
文献类型：
--
作者：
Tischfield, Max A.;Cederquist, Gustav Y.;Gupta, Mohan L., Jr.;Engle, Elizabeth C.
一系列以异常神经元迁移、分化和轴突引导和维持为特征的神经系统疾病最近被归因于编码α和β微管蛋白同种型TUBA1A、TUBA8、TUBB2B和TUBB3的基因中的错义突变，所有这些基因都可以在puronecular下共组装成神经元微管。由此产生的神经系统畸形可包括不同类型的皮质畸形、连合纤维束缺陷以及运动和感觉轴突变性。许多临床表型和脑畸形在各种突变之间共享，而不管结构位置和/或同种型，而其他突变在微管蛋白内与不同的氨基酸或功能结构域分离。总的来说，这些疾病为理解微管及其核心成分在正常健康和疾病中的生物学功能提供了新的范例。
A spectrum of neurological disorders characterized by abnormal neuronal migration, differentiation, and axon guidance and maintenance have recently been attributed to missense mutations in the genes that encode α– and β-tubulin isotypes TUBA1A, TUBA8, TUBB2B, and TUBB3, all of which putatively co-assemble into neuronal microtubules. The resulting nervous system malformations can include different types of cortical malformations, defects in commissural fiber tracts, and degeneration of motor and sensory axons. Many clinical phenotypes and brain malformations are shared among the various mutations regardless of structural location and/or isotype, while others segregate with distinct amino acids or functional domains within tubulin. Collectively, these disorders provide novel paradigms for understanding the biological functions of microtubules and their core components in normal health and disease.
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影响因子：
3.5
作者：
Morris-Rosendahl, D. J.;Najm, J.;Uyanik, G.
通讯作者：
Uyanik, G.
DOI：
10.1073/pnas.91.24.11358
发表时间：
1994-11-22
影响因子：
11.1
作者：
PANDA, D;MILLER, HP;WILSON, L
通讯作者：
WILSON, L
影响因子：
12.7
作者：
Lecourtois, Magalie;Poirier, Karine;Laquerriere, Annie
通讯作者：
Laquerriere, Annie
影响因子：
11.4
作者：
Kikkawa, Masahide;Hirokawa, Nobutaka
通讯作者：
Hirokawa, Nobutaka
影响因子：
64.5
作者：
Keays DA;Tian G;Poirier K;Huang GJ;Siebold C;Cleak J;Oliver PL;Fray M;Harvey RJ;Molnár Z;Piñon MC;Dear N;Valdar W;Brown SD;Davies KE;Rawlins JN;Cowan NJ;Nolan P;Chelly J;Flint J
通讯作者：
Flint J