Suppr超能文献

轻度和重度脊髓性肌萎缩症的病因各不相同。

Different factors underlie mild and severe forms of spinal muscular atrophy.

作者信息

Ottesen Eric W, Singh Ravindra N

机构信息

Department of Biomedical Sciences, Iowa State University, Ames, IA 50011, USA.

出版信息

Brain. 2025 Feb 3;148(2):360-362. doi: 10.1093/brain/awaf012.

Abstract

This scientific commentary refers to ‘The systemic complexity of a monogenic disease: the molecular network of spinal muscular atrophy’ by Tapken (https://doi.org/10.1093/brain/awae272).

摘要

本科学评论参考了塔普肯所著的《单基因疾病的系统复杂性:脊髓性肌萎缩症的分子网络》(https://doi.org/10.1093/brain/awae272)。

相似文献

1
Different factors underlie mild and severe forms of spinal muscular atrophy.
Brain. 2025 Feb 3;148(2):360-362. doi: 10.1093/brain/awaf012.
6
Cardiac pathology in spinal muscular atrophy: a systematic review.
Orphanet J Rare Dis. 2017 Apr 11;12(1):67. doi: 10.1186/s13023-017-0613-5.
8
Treatment Guidelines and Rehabilitation in Spinal Muscular Atrophy and Duchenne's Muscular Dystrophy.
Phys Med Rehabil Clin N Am. 2025 Aug;36(3):531-554. doi: 10.1016/j.pmr.2025.03.001. Epub 2025 May 24.

本文引用的文献

2
Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment.
Int J Mol Sci. 2023 Jul 26;24(15):11939. doi: 10.3390/ijms241511939.
3
Phosphorylation of ribosomal protein S6 differentially affects mRNA translation based on ORF length.
Nucleic Acids Res. 2021 Dec 16;49(22):13062-13074. doi: 10.1093/nar/gkab1157.
4
Spinal muscular atrophy: Broad disease spectrum and sex-specific phenotypes.
Biochim Biophys Acta Mol Basis Dis. 2021 Apr 1;1867(4):166063. doi: 10.1016/j.bbadis.2020.166063. Epub 2021 Jan 5.
5
SMN-primed ribosomes modulate the translation of transcripts related to spinal muscular atrophy.
Nat Cell Biol. 2020 Oct;22(10):1239-1251. doi: 10.1038/s41556-020-00577-7. Epub 2020 Sep 21.
6
Diverse role of survival motor neuron protein.
Biochim Biophys Acta Gene Regul Mech. 2017 Mar;1860(3):299-315. doi: 10.1016/j.bbagrm.2016.12.008. Epub 2017 Jan 15.
7
SMN affects membrane remodelling and anchoring of the protein synthesis machinery.
J Cell Sci. 2016 Feb 15;129(4):804-16. doi: 10.1242/jcs.176750. Epub 2016 Jan 7.
8
Mouse models of SMA: tools for disease characterization and therapeutic development.
Hum Genet. 2012 Aug;131(8):1277-93. doi: 10.1007/s00439-012-1171-5. Epub 2012 Apr 29.
10
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy.
Proc Natl Acad Sci U S A. 1999 May 25;96(11):6307-11. doi: 10.1073/pnas.96.11.6307.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验