ALG13-Related Epilepsy: Current Insights and Future Research Directions

IF 3.8 3区医学 Q2 BIOCHEMISTRY & MOLECULAR BIOLOGY Neurochemical Research Pub Date : 2024-12-14 DOI:10.1007/s11064-024-04300-y

Peng Gao, Haoran Chen, Yangyang Sun, Xin Qian, Tao Sun, Yuhan Fan, Jing Zhang

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Abstract

The ALG13 gene encodes a subunit of the uridine diphosphate-N-acetylglucosamine (UDP-GlcNAc) transferase enzyme, which plays a key role in the N-linked glycosylation pathway. This pathway involves the attachment of carbohydrate structures to asparagine (Asn) residues in proteins within the endoplasmic reticulum, by which N-glycosylated proteins produced participate a wide range of processes such as electrical gradients formation and neurotransmission. Mutations in the ALG13 gene have been identified as a causative factor for congenital disorders of glycosylation (CDG) and have been frequently associated with epilepsy in affected individuals. Several studies have demonstrated a strong correlation between abnormal N-glycosylation due to ALG13 deficiency and the onset of epilepsy. Despite these findings, the precise role of ALG13 in the pathogenesis of epilepsy remains unclear. This review provides a comprehensive overview of the current literature on ALG13-related disorders, with a focus on recent evidence regarding its role in epilepsy development and progression. Future research directions are also proposed to further elucidate the molecular mechanisms underlying this association.

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ALG13相关癫痫：当前见解和未来研究方向

ALG13基因编码尿苷二磷酸- n -乙酰氨基葡萄糖（UDP-GlcNAc）转移酶的一个亚基，该亚基在n -链糖基化途径中起关键作用。这一途径涉及到碳水化合物结构附着在内质网蛋白质中的天冬酰胺（Asn）残基上，由此产生的n -糖基化蛋白参与了广泛的过程，如电梯度形成和神经传递。ALG13基因突变已被确定为先天性糖基化障碍（CDG）的一个致病因素，并且经常与受影响个体的癫痫有关。一些研究表明，由于ALG13缺乏导致的n -糖基化异常与癫痫发作之间存在很强的相关性。尽管有这些发现，ALG13在癫痫发病机制中的确切作用仍不清楚。本文综述了目前有关alg13相关疾病的文献，重点介绍了其在癫痫发生和进展中的作用。未来的研究方向是进一步阐明这种关联的分子机制。

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来源期刊

Neurochemical Research 医学-神经科学

CiteScore

7.70

自引率

2.30%

发文量

320

审稿时长

6 months

期刊介绍： Neurochemical Research is devoted to the rapid publication of studies that use neurochemical methodology in research on nervous system structure and function. The journal publishes original reports of experimental and clinical research results, perceptive reviews of significant problem areas in the neurosciences, brief comments of a methodological or interpretive nature, and research summaries conducted by leading scientists whose works are not readily available in English.