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Three faces of the same gene: FA2H links neurodegeneration with brain iron accumulation, leukodystrophies, and hereditary spastic paraplegias.

作者信息

Schneider Susanne A, Bhatia Kailash P

出版信息

Ann Neurol. 2010 Nov;68(5):575-7. doi: 10.1002/ana.22211.

DOI:10.1002/ana.22211
PMID:21031573
Abstract
摘要

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1
Three faces of the same gene: FA2H links neurodegeneration with brain iron accumulation, leukodystrophies, and hereditary spastic paraplegias.同一基因的三个方面:FA2H 将神经退行性变与脑铁蓄积、脑白质营养不良和遗传性痉挛性截瘫联系起来。
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Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families.16号染色体单亲二倍体在4个家族中揭示了FA2H/SPG35的隐性突变。
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PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation.PANK2 和 C19orf12 突变是脑铁蓄积性神经退行性变的常见原因。
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Oxid Med Cell Longev. 2022 Apr 11;2022:5100904. doi: 10.1155/2022/5100904. eCollection 2022.
2
Glial α-synuclein promotes neurodegeneration characterized by a distinct transcriptional program in vivo.胶质细胞 α-突触核蛋白在体内促进具有独特转录程序的神经退行性变。
Glia. 2019 Oct;67(10):1933-1957. doi: 10.1002/glia.23671. Epub 2019 Jul 3.
3
[Ataxias and hereditary spastic paraplegias].
[共济失调与遗传性痉挛性截瘫]
Nervenarzt. 2017 Jul;88(7):720-727. doi: 10.1007/s00115-017-0357-4.
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Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology.深入探究遗传性痉挛性截瘫的复杂性:意外的表型和遗传模式如何彻底改变其疾病分类学。
Hum Genet. 2015 Jun;134(6):511-38. doi: 10.1007/s00439-015-1536-7. Epub 2015 Mar 11.
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Defective lipid metabolism in neurodegeneration with brain iron accumulation (NBIA) syndromes: not only a matter of iron.脑铁沉积神经变性(NBIA)综合征中的脂质代谢缺陷:不仅是铁的问题。
J Inherit Metab Dis. 2015 Jan;38(1):123-36. doi: 10.1007/s10545-014-9770-z. Epub 2014 Oct 10.
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Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA).脑铁蓄积性神经变性(NBIA)的遗传学和病理生理学。
Curr Neuropharmacol. 2013 Jan;11(1):59-79. doi: 10.2174/157015913804999469.
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Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia.一个患有复杂遗传性痉挛性截瘫的家族中可能的FA2H奠基者突变的表型变异性。
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Dystonic opisthotonus: a "red flag" for neurodegeneration with brain iron accumulation syndromes?扭转性角弓反张:脑铁蓄积神经变性综合征的“危险信号”?
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Excess iron harms the brain: the syndromes of neurodegeneration with brain iron accumulation (NBIA).铁过量会损害大脑:神经退行性疾病伴脑铁沉积(NBIA)综合征。
J Neural Transm (Vienna). 2013 Apr;120(4):695-703. doi: 10.1007/s00702-012-0922-8. Epub 2012 Dec 2.
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Plant Signal Behav. 2012 Nov;7(11):1388-92. doi: 10.4161/psb.21825. Epub 2012 Aug 23.