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A drug candidate for a rare polyalanine disease targeting the protein quality control.

作者信息

Pochtar Sharon, Ashkenazi Avraham

机构信息

The Department of Cell and Developmental Biology, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv 6997801, Israel.

Sagol School of Neuroscience, Tel Aviv University, Tel Aviv 6997801, Israel.

出版信息

Mol Ther Nucleic Acids. 2024 Oct 30;35(4):102364. doi: 10.1016/j.omtn.2024.102364. eCollection 2024 Dec 10.

DOI:10.1016/j.omtn.2024.102364
PMID:39554994
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11564928/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37d0/11564928/78324ab5eee0/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37d0/11564928/78324ab5eee0/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37d0/11564928/78324ab5eee0/gr1.jpg

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本文引用的文献

1
Identification of a histone deacetylase inhibitor as a therapeutic candidate for congenital central hypoventilation syndrome.鉴定一种组蛋白去乙酰化酶抑制剂作为先天性中枢性低通气综合征的治疗候选药物。
Mol Ther Nucleic Acids. 2024 Sep 3;35(4):102319. doi: 10.1016/j.omtn.2024.102319. eCollection 2024 Dec 10.
2
Disease-associated polyalanine expansion mutations impair UBA6-dependent ubiquitination.疾病相关多聚丙氨酸扩展突变会损害 UBA6 依赖性泛素化。
EMBO J. 2024 Jan;43(2):250-276. doi: 10.1038/s44318-023-00018-9. Epub 2024 Jan 2.
3
Congenital central hypoventilation syndrome: An overview of etiopathogenesis, associated pathologies, clinical presentation, and management.
先天性中枢性低通气综合征:病因发病机制、相关病变、临床表现及治疗概述
Auton Neurosci. 2018 Mar;210:1-9. doi: 10.1016/j.autneu.2017.11.003. Epub 2017 Nov 13.
4
Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome.与先天性中枢性低通气综合征相关的多聚丙氨酸扩展突变诱导的转录失调和 PHOX2B 自身调节机制障碍。
Neurobiol Dis. 2013 Feb;50:187-200. doi: 10.1016/j.nbd.2012.10.019. Epub 2012 Oct 25.
5
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.先天性中枢性低通气综合征中配对样同源盒基因PHOX2B的聚丙氨酸扩展和移码突变
Nat Genet. 2003 Apr;33(4):459-61. doi: 10.1038/ng1130. Epub 2003 Mar 17.
6
Control of noradrenergic differentiation and Phox2a expression by MASH1 in the central and peripheral nervous system.MASH1对中枢和外周神经系统中去甲肾上腺素能分化及Phox2a表达的调控
Development. 1998 Feb;125(4):599-608. doi: 10.1242/dev.125.4.599.