The Golgi apparatus (GA) is involved in a whole spectrum of activities, from lipid biosynthesis and membrane secretion to the posttranslational processing and trafficking of most proteins, the control of mitosis, cell polarity, migration and morphogenesis, and diverse processes such as apoptosis, autophagy, and the stress response. In keeping with its versatility, mutations in GA proteins lead to a number of different disorders, including syndromes with multisystem involvement. Intriguingly, however, > 40% of the GA-related genes known to be associated with disease affect the central or peripheral nervous system, highlighting the critical importance of the GA for neural function. We have previously proposed the term "Golgipathies" in relation to a group of disorders in which mutations in GA proteins or their molecular partners lead to consequences for brain development, in particular postnatal-onset microcephaly (POM), white-matter defects, and intellectual disability (ID). Here, taking into account the broader role of the GA in the nervous system, we refine and enlarge this emerging concept to include other disorders whose symptoms may be indicative of altered neurodevelopmental processes, from neurogenesis to neuronal migration and the secretory function critical for the maturation of postmitotic neurons and myelination.

中文翻译：

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神经发育中的高尔氏病：旧缺陷的新观点。

高尔基体（GA）参与了整个活动范围，从脂质的生物合成和膜分泌到大多数蛋白质的翻译后加工和运输，有丝分裂的控制，细胞极性，迁移和形态发生以及各种过程（例如凋亡），自噬和压力反应。为了保持其通用性，GA蛋白的突变会导致许多不同的疾病，包括涉及多系统的综合症。有趣的是，已知与疾病相关的与GA相关的基因中，有超过40％会影响中枢或周围神经系统，从而突出显示了GA对神经功能的至关重要性。我们之前曾提出过“ Golgipathies”一词 涉及一组疾病，其中GA蛋白或其分子伴侣的突变导致大脑发育，特别是出生后发作的小头畸形（POM），白质缺陷和智障（ID）。在这里，考虑到GA在神经系统中的广泛作用，我们改进并扩大了这个新兴概念，以包括其症状可能指示从神经发生到神经元迁移以及对成熟至关重要的分泌功能改变的神经发育过程的其他疾病有丝分裂后神经元和髓鞘形成。