Neurodevelopmental defects as a primer of neurodegeneration: lessons from spinal muscular atrophy and Huntington's disease.
作者信息
Grice Stuart J, Liu Ji-Long
机构信息
Medical Research Council Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK.
Medical Research Council Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK; School of Life Science and Technology, ShanghaiTech University, Shanghai, China.
出版信息
Neural Regen Res. 2023 Sep;18(9):1952-1953. doi: 10.4103/1673-5374.367844.
Abstract
摘要
相似文献
1
Neurodevelopmental defects as a primer of neurodegeneration: lessons from spinal muscular atrophy and Huntington's disease.神经发育缺陷作为神经退行性变的起始因素：来自脊髓性肌萎缩症和亨廷顿舞蹈病的教训
Neural Regen Res. 2023 Sep;18(9):1952-1953. doi: 10.4103/1673-5374.367844.
2
Muscle atrophy is associated with cervical spinal motoneuron loss in BACHD mouse model for Huntington's disease.在亨廷顿舞蹈症的BACHD小鼠模型中，肌肉萎缩与颈脊髓运动神经元丧失有关。
Eur J Neurosci. 2017 Mar;45(6):785-796. doi: 10.1111/ejn.13510. Epub 2017 Jan 30.
3
A tale of two factors: what determines the rate of progression in Huntington's disease? A longitudinal MRI study.两个因素的故事：什么决定亨廷顿病的进展速度？一项纵向 MRI 研究。
Mov Disord. 2011 Aug 1;26(9):1691-7. doi: 10.1002/mds.23762. Epub 2011 May 24.
4
Spinal cord atrophy in early Huntington's disease.早期亨廷顿病的脊髓萎缩。
Ann Clin Transl Neurol. 2014 Apr;1(4):302-6. doi: 10.1002/acn3.52. Epub 2014 Mar 24.
5
Multimodal imaging biomarkers in premanifest and early Huntington's disease: 30-month IMAGE-HD data.多模态影像生物标志物在未显症和早期亨廷顿病中的应用：IMAGE-HD 研究 30 个月数据。
Br J Psychiatry. 2016 Jun;208(6):571-8. doi: 10.1192/bjp.bp.114.156588. Epub 2015 Dec 17.
6
Huntington's disease-specific mis-splicing unveils key effector genes and altered splicing factors.亨廷顿病特异性剪接揭示关键效应基因和改变的剪接因子。
Brain. 2021 Aug 17;144(7):2009-2023. doi: 10.1093/brain/awab087.
7
Reactive astrocytes promote proteostasis in Huntington's disease through the JAK2-STAT3 pathway.反应性星形胶质细胞通过JAK2-STAT3信号通路促进亨廷顿舞蹈病中的蛋白质稳态。
Brain. 2023 Jan 5;146(1):149-166. doi: 10.1093/brain/awac068.
8
The pattern of neurodegeneration in Huntington's disease: a comparative study of cannabinoid, dopamine, adenosine and GABA(A) receptor alterations in the human basal ganglia in Huntington's disease.亨廷顿舞蹈病中的神经退行性变模式：亨廷顿舞蹈病患者人类基底神经节中大麻素、多巴胺、腺苷和GABA(A)受体改变的比较研究
Neuroscience. 2000;97(3):505-19. doi: 10.1016/s0306-4522(00)00008-7.
9
Increased brain tissue sodium concentration in Huntington's Disease - a sodium imaging study at 4 T.亨廷顿病患者脑组织钠离子浓度增加——4T 下的钠成像研究。
Neuroimage. 2012 Oct 15;63(1):517-24. doi: 10.1016/j.neuroimage.2012.07.009. Epub 2012 Jul 14.
10
Mutant huntingtin and glycogen synthase kinase 3-beta accumulate in neuronal lipid rafts of a presymptomatic knock-in mouse model of Huntington's disease.突变型亨廷顿蛋白和糖原合成酶激酶 3-β在亨廷顿病的一种前症状敲入小鼠模型的神经元脂筏中积累。
J Neurosci Res. 2010 Jan;88(1):179-90. doi: 10.1002/jnr.22184.
引用本文的文献
1
Understanding retinal tau pathology through functional 2D and 3D iPSC-derived in vitro retinal models.通过功能性二维和三维诱导多能干细胞衍生的体外视网膜模型了解视网膜tau病理。
Acta Neuropathol Commun. 2025 Jan 29;13(1):19. doi: 10.1186/s40478-024-01920-x.
2
Dendrite injury triggers neuroprotection in Drosophila models of neurodegenerative disease.树突损伤触发神经退行性疾病果蝇模型中的神经保护作用。
Sci Rep. 2024 Oct 21;14(1):24766. doi: 10.1038/s41598-024-74670-4.
3
Histaminergic System Activity in the Central Nervous System: The Role in Neurodevelopmental and Neurodegenerative Disorders.中枢神经系统的组胺能系统活性：在神经发育和神经退行性疾病中的作用。
Int J Mol Sci. 2024 Sep 12;25(18):9859. doi: 10.3390/ijms25189859.
4
Insights into spinal muscular atrophy from molecular biomarkers.从分子生物标志物看脊髓性肌萎缩症
Neural Regen Res. 2025 Jul 1;20(7):1849-1863. doi: 10.4103/NRR.NRR-D-24-00067. Epub 2024 Jun 26.
本文引用的文献
1
Motor defects in a Drosophila model for spinal muscular atrophy result from SMN depletion during early neurogenesis.果蝇脊髓性肌肉萎缩症模型中的运动缺陷是由于早期神经发生过程中 SMN 耗竭引起的。
PLoS Genet. 2022 Jul 25;18(7):e1010325. doi: 10.1371/journal.pgen.1010325. eCollection 2022 Jul.
2
Neurogenetic disorders across the lifespan: from aberrant development to degeneration.神经发育和退行性疾病：从发育异常到退行性变。
Nat Rev Neurol. 2022 Feb;18(2):117-124. doi: 10.1038/s41582-021-00595-5. Epub 2022 Jan 5.
3
Developmental defects in Huntington's disease show that axonal growth and microtubule reorganization require NUMA1.亨廷顿病中的发育缺陷表明轴突生长和微管重组需要NUMA1。
Neuron. 2022 Jan 5;110(1):36-50.e5. doi: 10.1016/j.neuron.2021.10.033. Epub 2021 Nov 17.
4
Neurodevelopmental Clues to Neurodegeneration.神经发育对神经退行性变的启示。
Pediatr Neurol. 2021 Oct;123:67-76. doi: 10.1016/j.pediatrneurol.2021.07.012. Epub 2021 Aug 6.
5
Tracing Environmental Exposure from Neurodevelopment to Neurodegeneration.从神经发育到神经退行性病变追踪环境暴露
Trends Neurosci. 2018 Aug;41(8):496-501. doi: 10.1016/j.tins.2018.04.005. Epub 2018 May 15.
6
Advances in therapy for spinal muscular atrophy: promises and challenges.脊髓性肌萎缩症治疗的进展：前景与挑战。
Nat Rev Neurol. 2018 Apr;14(4):214-224. doi: 10.1038/nrneurol.2018.4. Epub 2018 Feb 9.
7
Huntington disease.亨廷顿舞蹈病。
Nat Rev Dis Primers. 2015 Apr 23;1:15005. doi: 10.1038/nrdp.2015.5.
8
The role of type 2 diabetes in neurodegeneration.2型糖尿病在神经退行性变中的作用。
Neurobiol Dis. 2015 Dec;84:22-38. doi: 10.1016/j.nbd.2015.04.008. Epub 2015 Apr 26.
9
SMN is required for the maintenance of embryonic stem cells and neuronal differentiation in mice.在小鼠中，生存运动神经元（SMN）对于胚胎干细胞的维持和神经元分化是必需的。
Brain Struct Funct. 2015;220(3):1539-53. doi: 10.1007/s00429-014-0743-7. Epub 2014 Mar 17.
10
Survival motor neuron protein regulates stem cell division, proliferation, and differentiation in Drosophila.存活运动神经元蛋白调控果蝇干细胞的分裂、增殖和分化。
PLoS Genet. 2011 Apr;7(4):e1002030. doi: 10.1371/journal.pgen.1002030. Epub 2011 Apr 7.
Zotero 插件