功能失调的线粒体维持：是什么打破了生命的循环？ - Suppr

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Dysfunctional mitochondrial maintenance: what breaks the circle of life?

作者信息

Yu-Wai-Man Patrick, Chinnery Patrick F

出版信息

Brain. 2012 Jan;135(Pt 1):9-11. doi: 10.1093/brain/awr352. Epub 2012 Jan 23.

DOI:10.1093/brain/awr352

PMID:22271662

Abstract

摘要

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相似文献

Dysfunctional mitochondrial maintenance: what breaks the circle of life?

Brain. 2012 Jan;135(Pt 1):9-11. doi: 10.1093/brain/awr352. Epub 2012 Jan 23.

MFN2 mutations cause compensatory mitochondrial DNA proliferation.

Brain. 2012 Aug;135(Pt 8):e219, 1-3; author reply e220, 1-3. doi: 10.1093/brain/aws049. Epub 2012 Apr 4.

MFN2, a new gene responsible for mitochondrial DNA depletion.

Brain. 2012 Aug;135(Pt 8):e223, 1-4; author reply e224, 1-3. doi: 10.1093/brain/aws111. Epub 2012 May 3.

The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype.

Brain. 2012 Jan;135(Pt 1):23-34. doi: 10.1093/brain/awr323. Epub 2011 Dec 20.

Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations.

Neurology. 2017 Jan 10;88(2):131-142. doi: 10.1212/WNL.0000000000003491. Epub 2016 Dec 14.

Complete mitochondrial DNA sequence analysis in a family with early-onset dystonia and optic atrophy.

Mov Disord. 2004 Feb;19(2):235-7. doi: 10.1002/mds.10646.

Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.

Brain. 2017 Oct 1;140(10):2586-2596. doi: 10.1093/brain/awx219.

Mitochondrial disorders of the nuclear genome.

Acta Myol. 2009 Jul;28(1):16-23.

Mitochondrial disorder with OPA1 mutation lacking optic atrophy.

Mitochondrion. 2009 Jul;9(4):279-81. doi: 10.1016/j.mito.2009.03.001. Epub 2009 Mar 20.

[Optic atrophy in a patient with axonal Charcot-Marie-Tooth disease 2A2A due to MFN2 gene mutations].

Zhonghua Yan Ke Za Zhi. 2023 May 11;59(5):408-410. doi: 10.3760/cma.j.cn112142-20220611-00289.

引用本文的文献

Rapid manipulation of mitochondrial morphology in a living cell with iCMM.

Cell Rep Methods. 2021 Jul 22;1(4):100052. doi: 10.1016/j.crmeth.2021.100052. eCollection 2021 Aug 23.

CPEO and Mitochondrial Myopathy in a Patient with Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions.

Case Rep Neurol Med. 2019 Mar 6;2019:5918632. doi: 10.1155/2019/5918632. eCollection 2019.

Poly(ADP-ribose)polymerases inhibitors prevent early mitochondrial fragmentation and hepatocyte cell death induced by H2O2.

PLoS One. 2017 Oct 26;12(10):e0187130. doi: 10.1371/journal.pone.0187130. eCollection 2017.

Inherited eye-related disorders due to mitochondrial dysfunction.

Hum Mol Genet. 2017 Aug 1;26(R1):R12-R20. doi: 10.1093/hmg/ddx182.

MtDNA-maintenance defects: syndromes and genes.

J Inherit Metab Dis. 2017 Jul;40(4):587-599. doi: 10.1007/s10545-017-0027-5. Epub 2017 Mar 21.

A neurodegenerative perspective on mitochondrial optic neuropathies.

Acta Neuropathol. 2016 Dec;132(6):789-806. doi: 10.1007/s00401-016-1625-2. Epub 2016 Sep 30.

Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes.

JIMD Rep. 2015;23:91-100. doi: 10.1007/8904_2015_438. Epub 2015 May 5.

Disturbed mitochondrial dynamics and neurodegenerative disorders.

Nat Rev Neurol. 2015 Jan;11(1):11-24. doi: 10.1038/nrneurol.2014.228. Epub 2014 Dec 9.

Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.

Brain. 2014 Oct;137(Pt 10):e302. doi: 10.1093/brain/awu187. Epub 2014 Jul 10.

The clinical maze of mitochondrial neurology.

Nat Rev Neurol. 2013 Aug;9(8):429-44. doi: 10.1038/nrneurol.2013.126. Epub 2013 Jul 9.