MFN2, a new gene responsible for mitochondrial DNA depletion
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Published in | Brain (London, England : 1878) Vol. 135; no. 8; p. e223 |
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Main Authors | , , , , , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
England
01.08.2012
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Subjects | |
Online Access | Get full text |
ISSN | 0006-8950 1460-2156 1460-2156 |
DOI | 10.1093/brain/aws111 |
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Author | Romana, Claudia Billette de Villemeur, Thierry Amati-Bonneau, Patrizia Forin, Veronique Renaldo, Florence Mayer, Michèle Bernabe Gelot, Antoinette Rodriguez, Diana Burglen, Lydie Bursztyn, Joseph Reynier, Pascal Barnerias, Christine Doummar, Diane Khouri, Nejib Slama, Abdelhamid |
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BackLink | https://www.ncbi.nlm.nih.gov/pubmed/22556188$$D View this record in MEDLINE/PubMed |
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CitedBy_id | crossref_primary_10_1007_s00401_019_02059_z crossref_primary_10_1016_j_nmd_2014_05_004 crossref_primary_10_1242_dmm_048912 crossref_primary_10_1136_jnnp_2022_328921 crossref_primary_10_12688_f1000research_53230_2 crossref_primary_10_1093_hmg_ddt359 crossref_primary_10_1242_jcs_258944 crossref_primary_10_12688_f1000research_53230_1 crossref_primary_10_3390_life10090164 crossref_primary_10_1093_hmg_ddu203 crossref_primary_10_1136_jnnp_2017_316820 crossref_primary_10_1016_S1474_4422_13_70158_3 crossref_primary_10_1038_nrneurol_2014_228 crossref_primary_10_1038_s41598_018_35133_9 crossref_primary_10_1016_j_bbadis_2019_165536 crossref_primary_10_1093_hmg_ddx182 crossref_primary_10_1089_ars_2012_4800 crossref_primary_10_3389_fnmol_2022_974480 crossref_primary_10_1016_j_biocel_2015_01_023 crossref_primary_10_15252_emmm_201404575 crossref_primary_10_1016_j_mito_2016_08_014 crossref_primary_10_1093_hmg_ddw258 crossref_primary_10_1016_j_neulet_2015_04_001 crossref_primary_10_1016_j_mito_2021_09_011 crossref_primary_10_1371_journal_pgen_1006597 crossref_primary_10_1007_s00401_016_1625_2 crossref_primary_10_1002_1873_3468_14021 crossref_primary_10_1016_j_neuron_2014_11_022 crossref_primary_10_1038_s41419_024_07165_9 crossref_primary_10_3389_fcell_2022_858286 crossref_primary_10_1093_brain_aws112 crossref_primary_10_1093_brain_awu234 |
Cites_doi | 10.1093/brain/awr323 10.1007/s00415-008-0847-1 10.1212/01.wnl.0000171345.62270.29 10.1016/j.nmd.2011.03.008 10.1093/brain/awl174 10.1001/archneurol.2011.225 10.1016/j.cell.2010.02.026 10.1038/ng1341 10.1212/WNL.0b013e3181e240f9 10.3109/10409238.2011.632763 10.1212/01.wnl.0000327095.32005.a4 |
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References | Copeland ( key 20170522095717_aws111-B5) 2012; 47 Klein ( key 20170522095717_aws111-B8) 2011; 68 Chung ( key 20170522095717_aws111-B4) 2006; 129 Chen ( key 20170522095717_aws111-B3) 2010; 141 Rouzier ( key 20170522095717_aws111-B9) 2012; 135 Genaria ( key 20170522095717_aws111-B7) 2011; 21 Züchner ( key 20170522095717_aws111-B11) 2004; 36 Del Bo ( key 20170522095717_aws111-B6) 2008; 71 Brockmann ( key 20170522095717_aws111-B2) 2008; 255 Zhu ( key 20170522095717_aws111-B10) 2005; 65 Boaretto ( key 20170522095717_aws111-B1) 2010; 74 22189565 - Brain. 2012 Jan;135(Pt 1):23-34 |
References_xml | – volume: 135 start-page: 23 year: 2012 ident: key 20170522095717_aws111-B9 article-title: The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy ‘plus’ phenotype publication-title: Brain doi: 10.1093/brain/awr323 – volume: 255 start-page: 1049 year: 2008 ident: key 20170522095717_aws111-B2 article-title: Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations publication-title: J Neurol doi: 10.1007/s00415-008-0847-1 – volume: 65 start-page: 496 year: 2005 ident: key 20170522095717_aws111-B10 article-title: Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous families with and without MFN2 mutations publication-title: Neurology doi: 10.1212/01.wnl.0000171345.62270.29 – volume: 21 start-page: 428 year: 2011 ident: key 20170522095717_aws111-B7 article-title: Characterizing the phenotypic manifestations of MFN2 R104W mutation in Charcot-Marie-Tooth type 2 publication-title: Neuromusc Disord doi: 10.1016/j.nmd.2011.03.008 – volume: 129 start-page: 2103 year: 2006 ident: key 20170522095717_aws111-B4 article-title: Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin (MFN2) mutations publication-title: Brain doi: 10.1093/brain/awl174 – volume: 68 start-page: 1295 year: 2011 ident: key 20170522095717_aws111-B8 article-title: Large kindred evaluation of mitofusin 2 novel mutation, extremes of neurologic presentations, and preserved nerve mitochondria publication-title: Arch Neurol doi: 10.1001/archneurol.2011.225 – volume: 141 start-page: 280 year: 2010 ident: key 20170522095717_aws111-B3 article-title: Mitochondrial fusion is required for mtDNA stability in skeletal muscle and tolerance of mtDNA mutations publication-title: Cell doi: 10.1016/j.cell.2010.02.026 – volume: 36 start-page: 449 year: 2004 ident: key 20170522095717_aws111-B11 article-title: Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A publication-title: Nat Genet doi: 10.1038/ng1341 – volume: 74 start-page: 1919 year: 2010 ident: key 20170522095717_aws111-B1 article-title: Severe CMT type 2 with fatal encephalopathy associated with a novel MFN2 splicing mutation publication-title: Neurology doi: 10.1212/WNL.0b013e3181e240f9 – volume: 47 start-page: 64 year: 2012 ident: key 20170522095717_aws111-B5 article-title: Defects in mitochondrial DNA replication and human disease publication-title: Crit Rev Biochem Mol Biol doi: 10.3109/10409238.2011.632763 – volume: 71 start-page: 1959 year: 2008 ident: key 20170522095717_aws111-B6 article-title: Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction publication-title: Neurology doi: 10.1212/01.wnl.0000327095.32005.a4 – reference: 22189565 - Brain. 2012 Jan;135(Pt 1):23-34 |
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SubjectTerms | DNA, Mitochondrial - genetics Female GTP Phosphohydrolases - genetics Humans Male Mitochondrial Myopathies - genetics Mitochondrial Proteins - genetics Optic Atrophy - genetics |
Title | MFN2, a new gene responsible for mitochondrial DNA depletion |
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