Decoding hereditary spastic paraplegia pathogenicity through transcriptomic profiling

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	Decoding hereditary spastic paraplegia pathogenicity through transcriptomic profiling
	Ho, NJ; Chen, X; Lei, Y; Gu, S
	2023
发表期刊	ZOOLOGICAL RESEARCH
ISSN	2095-8137
卷号	44 期号:3
摘要	Hereditary spastic paraplegia (HSP) is a group of genetic motor neuron diseases resulting from length-dependent axonal degeneration of the corticospinal upper motor neurons. Due to the advancement of next-generation sequencing, more than 70 novel HSP disease-causing genes have been identified in the past decade. Despite this, our understanding of HSP physiopathology and the development of efficient management and treatment strategies remain poor. One major challenge in studying HSP pathogenicity is selective neuronal vulnerability, characterized by the manifestation of clinical symptoms that are restricted to specific neuronal populations, despite the presence of germline disease-causing variants in every cell of the patient. Furthermore, disease genes may exhibit ubiquitous expression patterns and involve a myriad of different pathways to cause motor neuron degeneration. In the current review, we explore the correlation between transcriptomic data and clinical manifestations, as well as the importance of interspecies models by comparing tissue-specific transcriptomic profiles of humans and mice, expression patterns of different genes in the brain during development, and single-cell transcriptomic data from related tissues. Furthermore, we discuss the potential of emerging single-cell RNA sequencing technologies to resolve unanswered questions related to HSP
收录类别	SCI
语种	英语
文献类型	期刊论文
条目标识符	http://ir.kiz.ac.cn/handle/152453/14087
专题	其他
推荐引用方式 GB/T 7714	Ho, NJ,Chen, X,Lei, Y,et al. Decoding hereditary spastic paraplegia pathogenicity through transcriptomic profiling[J]. ZOOLOGICAL RESEARCH,2023,44(3).
APA	Ho, NJ,Chen, X,Lei, Y,&Gu, S.(2023).Decoding hereditary spastic paraplegia pathogenicity through transcriptomic profiling.ZOOLOGICAL RESEARCH,44(3).
MLA	Ho, NJ,et al."Decoding hereditary spastic paraplegia pathogenicity through transcriptomic profiling".ZOOLOGICAL RESEARCH 44.3(2023).

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20240614110.pdf（9317KB）	期刊论文	出版稿	开放获取	CC BY-NC-SA	请求全文