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Updated: Jun 21, 2025

Studying Protein Function and the Role of Altered Protein Expression by Antibody Interference and Three-dimensional Reconstructions
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神经元形态发生蛋白质NAV3的变种会导致智力障碍,发育迟缓和小头症

Amama Ghaffar1,2, Tehmeena Akhter1,2, Petter Strømme3

  • 1Department of Otorhinolaryngology-Head & Neck Surgery, School of Medicine University of Maryland, Baltimore, MD, USA.

Communications biology
|July 8, 2024
PubMed
概括

NAV3基因的致病变体会导致神经发育障碍,包括智力障碍和小头症. 这些突变会损害神经元导航3在稳定微管中的功能,影响神经元发育.

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Neurulation01:30

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Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three primary cell layers of the embryo: ectoderm, mesoderm, and endoderm. In humans, the majority of this system is formed via primary neurulation, in which the central portion of the ectoderm—originally appearing as a flat sheet of cells—folds upwards and inwards, sealing off to form a hollow neural tube. As development proceeds, the...
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