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GFAP canonical transcript may not be suitable for the diagnosis of adult-onset Alexander disease.

作者信息

Pinto E Vairo Filippo, Bertsch Nicole, Klee Eric W, Gavrilova Ralitza H

机构信息

Center for Individualized Medicine, Mayo Clinic, Harwick 3, 200 First Street SW, Rochester, MN, 55905, USA.

Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.

出版信息

Acta Neuropathol Commun. 2018 Oct 24;6(1):112. doi: 10.1186/s40478-018-0616-z.

DOI:10.1186/s40478-018-0616-z
PMID:30355306
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6201530/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fb9b/6201530/6116e6e74813/40478_2018_616_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fb9b/6201530/6116e6e74813/40478_2018_616_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fb9b/6201530/6116e6e74813/40478_2018_616_Fig1_HTML.jpg

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引用本文的文献

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Analysis of GFAP variants in UK Biobank suggests underdiagnosis or incomplete penetrance of adult-onset Alexander disease.英国生物银行中胶质纤维酸性蛋白(GFAP)变异分析表明成人型亚历山大病存在诊断不足或不完全显性。
J Neurol Neurosurg Psychiatry. 2024 Dec 6. doi: 10.1136/jnnp-2024-335089.
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Effects of Xiaoyaosan on Depressive-Like Behaviors in Rats With Chronic Unpredictable Mild Stress Through HPA Axis Induced Astrocytic Activities.

本文引用的文献

1
Analysis of protein-coding genetic variation in 60,706 humans.对60706名人类的蛋白质编码基因变异进行分析。
Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057.
2
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant.成人型亚历山大病与 GFAP 转录本中的突变相关,可能受非中性 HDAC6 变异体的表型调节。
Orphanet J Rare Dis. 2013 May 1;8:66. doi: 10.1186/1750-1172-8-66.
3
Late onset Alexander's disease presenting as cerebellar ataxia associated with a novel mutation in the GFAP gene.
逍遥散通过下丘脑-垂体-肾上腺轴诱导星形胶质细胞活动对慢性不可预测轻度应激大鼠抑郁样行为的影响
Front Psychiatry. 2020 Oct 20;11:545823. doi: 10.3389/fpsyt.2020.545823. eCollection 2020.
4
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform.由剪接错误和未明胶纤维酸性蛋白同种型异常过表达引起的 II 型亚历山大病。
Hum Mutat. 2020 Jun;41(6):1131-1137. doi: 10.1002/humu.24008. Epub 2020 Mar 11.
迟发性亚历山大病表现为小脑共济失调,与胶质纤维酸性蛋白(GFAP)基因的一种新突变相关。
J Neurol. 2011 May;258(5):938-40. doi: 10.1007/s00415-010-5849-0. Epub 2010 Dec 17.