小头畸形的内质网和高尔基应激。

IF 4.1 Q2 CELL BIOLOGY
Sandrine Passemard, Franck Perez, Pierre Gressens, Vincent El Ghouzzi
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引用次数: 21

摘要

小头畸形是一种神经发育疾病,其特征是大脑体积小,在大多数情况下伴有智力缺陷,是神经发育障碍中最常见的临床症状之一。它可以由怀孕期间或产后发生的各种环境损害以及各种遗传原因引起,并且是一种高度异质性的疾病。然而,一些证据表明,在神经发生过程中,皮质前体细胞的分裂模式受损,影响神经的承诺或存活,这是导致神经元产生有限的常见机制之一,并与最严重的先天性小头畸形有关。在这种背景下,内质网(ER)和高尔基体作为细胞内稳态的关键守护者的出现,特别是通过调节蛋白质平衡,提出了一种假设,即病理性内质网和/或高尔基体应激可能对引起小头畸形的皮质损伤有显著贡献。在这篇综述中,我们讨论了在早期大脑发育中涉及内质网和高尔基应激反应的最新发现,并概述了参与这些途径的小头症相关基因。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Endoplasmic reticulum and Golgi stress in microcephaly.

Endoplasmic reticulum and Golgi stress in microcephaly.

Endoplasmic reticulum and Golgi stress in microcephaly.

Microcephaly is a neurodevelopmental condition characterized by a small brain size associated with intellectual deficiency in most cases and is one of the most frequent clinical sign encountered in neurodevelopmental disorders. It can result from a wide range of environmental insults occurring during pregnancy or postnatally, as well as from various genetic causes and represents a highly heterogeneous condition. However, several lines of evidence highlight a compromised mode of division of the cortical precursor cells during neurogenesis, affecting neural commitment or survival as one of the common mechanisms leading to a limited production of neurons and associated with the most severe forms of congenital microcephaly. In this context, the emergence of the endoplasmic reticulum (ER) and the Golgi apparatus as key guardians of cellular homeostasis, especially through the regulation of proteostasis, has raised the hypothesis that pathological ER and/or Golgi stress could contribute significantly to cortical impairments eliciting microcephaly. In this review, we discuss recent findings implicating ER and Golgi stress responses in early brain development and provide an overview of microcephaly-associated genes involved in these pathways.

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来源期刊
Cell Stress
Cell Stress Biochemistry, Genetics and Molecular Biology-Biochemistry, Genetics and Molecular Biology (miscellaneous)
CiteScore
13.50
自引率
0.00%
发文量
21
审稿时长
15 weeks
期刊介绍: Cell Stress is an open-access, peer-reviewed journal that is dedicated to publishing highly relevant research in the field of cellular pathology. The journal focuses on advancing our understanding of the molecular, mechanistic, phenotypic, and other critical aspects that underpin cellular dysfunction and disease. It specifically aims to foster cell biology research that is applicable to a range of significant human diseases, including neurodegenerative disorders, myopathies, mitochondriopathies, infectious diseases, cancer, and pathological aging. The scope of Cell Stress is broad, welcoming submissions that represent a spectrum of research from fundamental to translational and clinical studies. The journal is a valuable resource for scientists, educators, and policymakers worldwide, as well as for any individual with an interest in cellular pathology. It serves as a platform for the dissemination of research findings that are instrumental in the investigation, classification, diagnosis, and therapeutic management of major diseases. By being open-access, Cell Stress ensures that its content is freely available to a global audience, thereby promoting international scientific collaboration and accelerating the exchange of knowledge within the research community.
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