{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T03:17:39Z","timestamp":1792034259273,"version":"4.4.0"},"reference-count":80,"publisher":"Oxford University Press (OUP)","issue":"11","license":[{"start":{"date-parts":[[2019,1,11]],"date-time":"2019-01-11T00:00:00Z","timestamp":1547164800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Inherited Neuropathies Consortium","award":["U54NS065712"],"award-info":[{"award-number":["U54NS065712"]}]},{"DOI":"10.13039\/100010897","name":"Newton Fund","doi-asserted-by":"publisher","award":["MR\/N027302\/1"],"award-info":[{"award-number":["MR\/N027302\/1"]}],"id":[{"id":"10.13039\/100010897","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Wellcome Trust Pathfinder Scheme"},{"DOI":"10.13039\/100010663","name":"European Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010663","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"MRC","doi-asserted-by":"publisher","award":["MR\/N025431\/1"],"award-info":[{"award-number":["MR\/N025431\/1"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Wellcome Centre for Mitochondrial Research","award":["203105\/Z\/16\/Z"],"award-info":[{"award-number":["203105\/Z\/16\/Z"]}]},{"name":"Wellcome Centre for Mitochondrial Research","award":["109915\/Z\/15\/Z"],"award-info":[{"award-number":["109915\/Z\/15\/Z"]}]},{"name":"Unipd STARS Consolidator"},{"name":"DeBio Departmental Research Project PRID Seed 2017"},{"name":"CARIPARO Starting Grant 2016 AIFbiol"},{"name":"Keith B Hayes Foundation and the Kassab Family"},{"DOI":"10.13039\/100006309","name":"American Parkinson Disease Association","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006309","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"U.S. National Institutes of Health","doi-asserted-by":"crossref","award":["K01-AG045335"],"award-info":[{"award-number":["K01-AG045335"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000002","name":"U.S. National Institutes of Health","doi-asserted-by":"crossref","award":["P01-HD032062"],"award-info":[{"award-number":["P01-HD032062"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100015138","name":"J. Willard and Alice S. Marriott Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100015138","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000005","name":"U.S. Department of Defense","doi-asserted-by":"publisher","award":["W911F-15-1-0169"],"award-info":[{"award-number":["W911F-15-1-0169"]}],"id":[{"id":"10.13039\/100000005","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,6,1]]},"DOI":"10.1093\/hmg\/ddz008","type":"journal-article","created":{"date-parts":[[2019,1,9]],"date-time":"2019-01-09T20:15:09Z","timestamp":1547064909000},"page":"1782-1800","source":"Crossref","is-referenced-by-count":106,"title":["MFN2 mutations in Charcot\u2013Marie\u2013Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics"],"prefix":"10.1093","volume":"28","author":[{"given":"Delfina","family":"Larrea","sequence":"first","affiliation":[{"name":"Department of Neurology, Columbia University Medical Center, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Pera","sequence":"additional","affiliation":[{"name":"Department of Neurology, Columbia University Medical Center, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adriano","family":"Gonnelli","sequence":"additional","affiliation":[{"name":"Department of Biology, University of Padova 35131, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rub\u00e9n","family":"Quintana\u2013Cabrera","sequence":"additional","affiliation":[{"name":"Department of Biology, University of Padova 35131, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H Orhan","family":"Akman","sequence":"additional","affiliation":[{"name":"Department of Neurology, Columbia University Medical Center, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Guardia-Laguarta","sequence":"additional","affiliation":[{"name":"Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin R","family":"Velasco","sequence":"additional","affiliation":[{"name":"Department of Neurology, Columbia University Medical Center, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Estela","family":"Area-Gomez","sequence":"additional","affiliation":[{"name":"Department of Neurology, Columbia University Medical Center, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Dal Bello","sequence":"additional","affiliation":[{"name":"Department of Biology, University of Padova 35131, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diego","family":"De Stefani","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, University of Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Horvath","sequence":"additional","affiliation":[{"name":"Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael E","family":"Shy","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Iowa, Iowa City, IA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric A","family":"Schon","sequence":"additional","affiliation":[{"name":"Department of Neurology, Columbia University Medical Center, New York, NY, USA"},{"name":"Department of Genetics and Development, Columbia University Medical Center, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Giacomello","sequence":"additional","affiliation":[{"name":"Department of Biology, University of Padova 35131, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2019,1,11]]},"reference":[{"key":"2019051613101244000_ref1","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/0022-510X(81)90097-6","article-title":"Hereditary motor and sensory neuropathy of neuronal type with onset in early childhood","volume":"51","author":"Ouvrier","year":"1981","journal-title":"J. Neurol. Sci."},{"key":"2019051613101244000_ref2","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1002\/ana.24824","article-title":"Cerebral white matter abnormalities in patients with Charcot\u2013Marie\u2013Tooth disease","volume":"81","author":"Lee","year":"2017","journal-title":"Ann. Neurol."},{"key":"2019051613101244000_ref3","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1038\/ng1341","article-title":"Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot\u2013Marie\u2013Tooth neuropathy type 2A","volume":"36","author":"Zuchner","year":"2004","journal-title":"Nat. Genet."},{"key":"2019051613101244000_ref4","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1016\/j.ejpn.2017.12.020","article-title":"A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotype","volume":"22","author":"Iapadre","year":"2018","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"2019051613101244000_ref5","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1111\/jns.12145","article-title":"Mutational mechanisms in MFN2-related neuropathy: compound heterozygosity for recessive and semidominant mutations","volume":"20","author":"Piscosquito","year":"2015","journal-title":"J. Peripher. Nerv. Syst."},{"key":"2019051613101244000_ref6","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1007\/s10048-012-0327-8","article-title":"A novel double mutation in cis in MFN2 causes Charcot\u2013Marie\u2013Tooth neuropathy type 2A","volume":"13","author":"Park","year":"2012","journal-title":"Neurogenetics"},{"key":"2019051613101244000_ref7","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1385\/NMM:8:1-2:63","article-title":"Molecular genetics of autosomal-dominant axonal Charcot\u2013Marie\u2013Tooth disease","volume":"8","author":"Zuchner","year":"2006","journal-title":"Neuromolecular Med."},{"key":"2019051613101244000_ref8","doi-asserted-by":"crossref","first-page":"2103","DOI":"10.1093\/brain\/awl174","article-title":"Early onset severe and late-onset mild Charcot\u2013Marie\u2013Tooth disease with mitofusin 2 (MFN2) mutations","volume":"129","author":"Chung","year":"2006","journal-title":"Brain"},{"key":"2019051613101244000_ref9","doi-asserted-by":"crossref","first-page":"2093","DOI":"10.1093\/brain\/awl126","article-title":"MFN2 mutation distribution and genotype\/phenotype correlation in Charcot\u2013Marie\u2013Tooth type 2","volume":"129","author":"Verhoeven","year":"2006","journal-title":"Brain"},{"key":"2019051613101244000_ref10","doi-asserted-by":"crossref","first-page":"33","DOI":"10.12688\/wellcomeopenres.11640.1","article-title":"ClinVar data parsing","volume":"2","author":"Zhang","year":"2017","journal-title":"Wellcome Open Res."},{"key":"2019051613101244000_ref11","doi-asserted-by":"crossref","first-page":"R169","DOI":"10.1093\/hmg\/ddp326","article-title":"Mitochondrial dynamics\u2014fusion, fission, movement, and mitophagy\u2014in neurodegenerative diseases","volume":"18","author":"Chen","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"2019051613101244000_ref12","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1126\/science.1099793","article-title":"Structural basis of mitochondrial tethering by mitofusin complexes","volume":"305","author":"Koshiba","year":"2004","journal-title":"Science"},{"key":"2019051613101244000_ref13","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1038\/nature07534","article-title":"Mitofusin 2 tethers endoplasmic reticulum to mitochondria","volume":"456","author":"Brito","year":"2008","journal-title":"Nature"},{"key":"2019051613101244000_ref14","doi-asserted-by":"crossref","first-page":"11249","DOI":"10.1073\/pnas.1606786113","article-title":"Critical reappraisal confirms that Mitofusin 2 is an endoplasmic reticulum\u2013mitochondria tether","volume":"113","author":"Naon","year":"2016","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"2019051613101244000_ref15","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1038\/nature20156","article-title":"Correcting mitochondrial fusion by manipulating mitofusin conformations","volume":"540","author":"Franco","year":"2016","journal-title":"Nature"},{"key":"2019051613101244000_ref16","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1083\/jcb.201611194","article-title":"A new mitofusin topology places the redox-regulated C terminus in the mitochondrial intermembrane space","volume":"217","author":"Mattie","year":"2017","journal-title":"J. Cell Biol."},{"key":"2019051613101244000_ref17","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/j.neuint.2017.05.009","article-title":"The thiol switch C684 in Mitofusin-2 mediates redox-induced alterations of mitochondrial shape and respiration","volume":"117","author":"Thaher","year":"2018","journal-title":"Neurochem. Int."},{"key":"2019051613101244000_ref18","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.expneurol.2008.01.010","article-title":"Mitochondrial fusion and function in Charcot\u2013Marie\u2013Tooth type 2A patient fibroblasts with mitofusin 2 mutations","volume":"211","author":"Amiott","year":"2008","journal-title":"Exp. Neurol."},{"key":"2019051613101244000_ref19","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1083\/jcb.200611080","article-title":"Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations","volume":"176","author":"Detmer","year":"2007","journal-title":"J. Cell Biol."},{"key":"2019051613101244000_ref20","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1126\/science.aao1785","article-title":"MFN2 agonists reverse mitochondrial defects in preclinical models of Charcot\u2013Marie\u2013Tooth disease type 2A","volume":"360","author":"Rocha","year":"2018","journal-title":"Science"},{"key":"2019051613101244000_ref21","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1007\/978-3-642-56808-4","volume-title":"Pathology of Perpheral Nerves. An Atlas of Structural and Pathological Changes","author":"Schr\u00f6der","year":"2001"},{"key":"2019051613101244000_ref22","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1007\/s00401-012-1036-y","article-title":"Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion","volume":"125","author":"Vielhaber","year":"2013","journal-title":"Acta Neuropathol."},{"key":"2019051613101244000_ref23","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1002\/ana.21086","article-title":"Mitochondrial coupling defect in Charcot\u2013Marie\u2013Tooth type 2A disease","volume":"61","author":"Loiseau","year":"2007","journal-title":"Ann. Neurol."},{"key":"2019051613101244000_ref24","doi-asserted-by":"crossref","first-page":"1618","DOI":"10.1096\/fj.10-173609","article-title":"Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutation","volume":"25","author":"Guillet","year":"2011","journal-title":"FASEB J."},{"key":"2019051613101244000_ref25","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1523\/JNEUROSCI.4798-06.2007","article-title":"Altered axonal mitochondrial transport in the pathogenesis of Charcot\u2013Marie\u2013Tooth disease from mitofusin 2 mutations","volume":"27","author":"Baloh","year":"2007","journal-title":"J. Neurosci."},{"key":"2019051613101244000_ref26","doi-asserted-by":"crossref","first-page":"4232","DOI":"10.1523\/JNEUROSCI.6248-09.2010","article-title":"Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro\/Milton complex","volume":"30","author":"Misko","year":"2010","journal-title":"J. Neurosci."},{"key":"2019051613101244000_ref27","doi-asserted-by":"crossref","first-page":"4145","DOI":"10.1523\/JNEUROSCI.6338-11.2012","article-title":"Mitofusin2 mutations disrupt axonal mitochondrial positioning and promote axon degeneration","volume":"32","author":"Misko","year":"2012","journal-title":"J. Neurosci."},{"key":"2019051613101244000_ref28","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1016\/j.expneurol.2014.10.005","article-title":"Axonal Charcot\u2013Marie\u2013Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties","volume":"263","author":"Saporta","year":"2015","journal-title":"Exp. Neurol."},{"key":"2019051613101244000_ref29","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.tcb.2008.12.002","article-title":"MAM: more than just a housekeeper","volume":"19","author":"Hayashi","year":"2009","journal-title":"Trends Cell Biol."},{"key":"2019051613101244000_ref30","doi-asserted-by":"crossref","first-page":"3356","DOI":"10.15252\/embj.201796797","article-title":"Increased localization of APP\u2013C99 in mitochondria-associated ER membranes causes mitochondrial dysfunction in Alzheimer disease","volume":"36","author":"Pera","year":"2017","journal-title":"EMBO J."},{"key":"2019051613101244000_ref31","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1016\/j.molcel.2013.04.023","article-title":"MITOL regulates endoplasmic reticulum\u2013mitochondria contacts via Mitofusin2","volume":"51","author":"Sugiura","year":"2013","journal-title":"Mol. Cell"},{"key":"2019051613101244000_ref32","doi-asserted-by":"crossref","first-page":"4106","DOI":"10.1038\/emboj.2012.202","article-title":"Upregulated function of mitochondria-associated ER membranes in Alzheimer disease","volume":"31","author":"Area-Gomez","year":"2012","journal-title":"EMBO J."},{"key":"2019051613101244000_ref33","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1016\/j.expneurol.2009.05.003","article-title":"Role of mitofusin 2 mutations in the physiopathology of Charcot\u2013Marie\u2013Tooth disease type 2A","volume":"218","author":"Cartoni","year":"2009","journal-title":"Exp. Neurol."},{"key":"2019051613101244000_ref34","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1083\/jcb.200211046","article-title":"Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development","volume":"160","author":"Chen","year":"2003","journal-title":"J. Cell Biol."},{"key":"2019051613101244000_ref35","doi-asserted-by":"crossref","first-page":"1551","DOI":"10.1007\/s00216-017-0805-9","article-title":"3D super-localization of intracellular organelle contacts at live single cell by dual-wavelength synchronized fluorescence-free imaging","volume":"410","author":"Chakkarapani","year":"2018","journal-title":"Anal. Bioanal. Chem."},{"key":"2019051613101244000_ref36","doi-asserted-by":"crossref","first-page":"1417","DOI":"10.1038\/cdd.2016.52","article-title":"The coming of age of the mitochondria\u2013ER contact: a matter of thickness","volume":"23","author":"Giacomello","year":"2016","journal-title":"Cell Death Differ."},{"key":"2019051613101244000_ref37","doi-asserted-by":"crossref","first-page":"1377","DOI":"10.1194\/jlr.R700020-JLR200","article-title":"Phosphatidylserine and phosphatidylethanolamine in mammalian cells: two metabolically related aminophospholipids","volume":"49","author":"Vance","year":"2008","journal-title":"J. Lipid Res."},{"key":"2019051613101244000_ref38","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1016\/j.tibs.2005.05.008","article-title":"Bridging gaps in phospholipid transport","volume":"30","author":"Voelker","year":"2005","journal-title":"Trends Biochem. Sci."},{"key":"2019051613101244000_ref39","doi-asserted-by":"crossref","first-page":"27494","DOI":"10.1016\/S0021-9258(18)47012-3","article-title":"A unique mitochondria-associated membrane fraction from rat liver has a high capacity for lipid synthesis and contains pre-Golgi secretory proteins including nascent lipoproteins","volume":"269","author":"Rusinol","year":"1994","journal-title":"J. Biol. Chem."},{"key":"2019051613101244000_ref40","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1083\/jcb.200604016","article-title":"Structural and functional features and significance of the physical linkage between ER and mitochondria","volume":"174","author":"Csordas","year":"2006","journal-title":"J. Cell Biol."},{"key":"2019051613101244000_ref41","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/j.molcel.2010.06.029","article-title":"Imaging interorganelle contacts and local calcium dynamics at the ER\u2013mitochondrial interface","volume":"39","author":"Csordas","year":"2010","journal-title":"Mol. Cell"},{"key":"2019051613101244000_ref42","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1038\/ncb1001-905","article-title":"Acyl-coenzyme A:cholesterol acyltransferase modulates the generation of the amyloid \u03b2-peptide","volume":"3","author":"Puglielli","year":"2001","journal-title":"Nat. Cell Biol."},{"key":"2019051613101244000_ref43","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1007\/s12154-014-0108-y","article-title":"Increased lipid droplet accumulation associated with a peripheral sensory neuropathy","volume":"7","author":"Marshall","year":"2014","journal-title":"J. Chem. Biol."},{"key":"2019051613101244000_ref44","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1089\/dna.2013.2182","article-title":"Mutations in the SPTLC1 protein cause mitochondrial structural abnormalities and endoplasmic reticulum stress in lymphoblasts","volume":"33","author":"Myers","year":"2014","journal-title":"DNA Cell Biol."},{"key":"2019051613101244000_ref45","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1212\/WNL.0000000000003595","article-title":"Sphingosine 1-phosphate lyase deficiency causes Charcot\u2013Marie\u2013Tooth neuropathy","volume":"88","author":"Atkinson","year":"2017","journal-title":"Neurology"},{"key":"2019051613101244000_ref46","doi-asserted-by":"crossref","first-page":"1716","DOI":"10.1096\/fj.201701067R","article-title":"Decreased ceramide underlies mitochondrial dysfunction in Charcot\u2013Marie\u2013Tooth 2F","volume":"32","author":"Schwartz","year":"2018","journal-title":"FASEB J."},{"key":"2019051613101244000_ref47","doi-asserted-by":"crossref","first-page":"17404","DOI":"10.1073\/pnas.0408030101","article-title":"Bcl-2-mediated alterations in endoplasmic reticulum Ca2+ analyzed with an improved genetically encoded fluorescent sensor","volume":"101","author":"Palmer","year":"2004","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"2019051613101244000_ref48","doi-asserted-by":"crossref","first-page":"12189","DOI":"10.1074\/jbc.M110.174029","article-title":"Mitofusin 2 regulates STIM1 migration from the Ca2+ store to the plasma membrane in cells with depolarized mitochondria","volume":"286","author":"Singaravelu","year":"2011","journal-title":"J. Biol. Chem."},{"key":"2019051613101244000_ref49","doi-asserted-by":"crossref","first-page":"2793","DOI":"10.1021\/bi3015983","article-title":"Effect of calcium on the oxidative phosphorylation cascade in skeletal muscle mitochondria","volume":"52","author":"Glancy","year":"2013","journal-title":"Biochemistry"},{"key":"2019051613101244000_ref50","doi-asserted-by":"crossref","first-page":"3447","DOI":"10.1113\/JP270254","article-title":"The regulation of neuronal mitochondrial metabolism by calcium","volume":"593","author":"Llorente-Folch","year":"2015","journal-title":"J. Physiol."},{"key":"2019051613101244000_ref51","doi-asserted-by":"crossref","first-page":"1405","DOI":"10.1093\/hmg\/ddi149","article-title":"The Charcot\u2013Marie\u2013Tooth type 2A gene product, Mfn2, up-regulates fuel oxidation through expression of OXPHOS system","volume":"14","author":"Pich","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"2019051613101244000_ref52","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1016\/j.cell.2007.08.036","article-title":"Sigma-1 receptor chaperones at the ER-mitochondrion interface regulate Ca2+ signaling and cell survival","volume":"131","author":"Hayashi","year":"2007","journal-title":"Cell"},{"key":"2019051613101244000_ref53","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1038\/nrm3412","article-title":"Mitochondria as sensors and regulators of calcium signalling","volume":"13","author":"Rizzuto","year":"2012","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"2019051613101244000_ref54","doi-asserted-by":"crossref","first-page":"2959","DOI":"10.1021\/bi2018909","article-title":"Role of mitochondrial Ca2+ in the regulation of cellular energetics","volume":"51","author":"Glancy","year":"2012","journal-title":"Biochemistry"},{"key":"2019051613101244000_ref55","doi-asserted-by":"crossref","first-page":"2389","DOI":"10.1007\/s00424-015-1707-3","article-title":"Evidence against a Ca2+-induced potentiation of dehydrogenase activity in pancreatic beta-cells","volume":"467","author":"Drews","year":"2015","journal-title":"Pflugers Arch."},{"key":"2019051613101244000_ref56","doi-asserted-by":"crossref","first-page":"e0134162","DOI":"10.1371\/journal.pone.0134162","article-title":"Mitofusin 2 deficiency affects energy metabolism and mitochondrial biogenesis in MEF cells","volume":"10","author":"Kawalec","year":"2015","journal-title":"PLoS One"},{"key":"2019051613101244000_ref57","doi-asserted-by":"crossref","first-page":"17190","DOI":"10.1074\/jbc.M212754200","article-title":"Mitofusin-2 determines mitochondrial network architecture and mitochondrial metabolism. A novel regulatory mechanism altered in obesity","volume":"278","author":"Bach","year":"2003","journal-title":"J. Biol. Chem."},{"key":"2019051613101244000_ref58","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1093\/brain\/awr323","article-title":"The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy \u2018plus\u2019 phenotype","volume":"135","author":"Rouzier","year":"2012","journal-title":"Brain"},{"key":"2019051613101244000_ref59","doi-asserted-by":"crossref","first-page":"E1208","DOI":"10.1152\/ajpendo.00546.2012","article-title":"A form of mitofusin 2 (Mfn2) lacking the transmembrane domains and the COOH-terminal end stimulates metabolism in muscle and liver cells","volume":"305","author":"Segales","year":"2013","journal-title":"Am. J. Physiol. Endocrinol. Metab."},{"key":"2019051613101244000_ref60","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1016\/j.tem.2016.09.002","article-title":"Mitochondria-associated membranes response to nutrient availability and role in metabolic diseases","volume":"28","author":"Theurey","year":"2017","journal-title":"Trends Endocrinol. Metab."},{"key":"2019051613101244000_ref61","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1093\/jmcb\/mjw004","article-title":"Mitochondria-associated endoplasmic reticulum membranes allow adaptation of mitochondrial metabolism to glucose availability in the liver","volume":"8","author":"Theurey","year":"2016","journal-title":"J. Mol. Cell Biol."},{"key":"2019051613101244000_ref62","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/B978-0-12-407870-3.00002-0","article-title":"STIM-ORAI interactions that control the CRAC channel","volume":"71","author":"Gudlur","year":"2013","journal-title":"Curr. Top. Membr."},{"key":"2019051613101244000_ref63","doi-asserted-by":"crossref","first-page":"1127","DOI":"10.1111\/j.1440-1681.2008.05018.x","article-title":"Stim, ORAI and TRPC channels in the control of calcium entry signals in smooth muscle","volume":"35","author":"Wang","year":"2008","journal-title":"Clin. Exp. Pharmacol. Physiol."},{"key":"2019051613101244000_ref64","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1038\/nrneurol.2013.126","article-title":"The clinical maze of mitochondrial neurology","volume":"9","author":"DiMauro","year":"2013","journal-title":"Nat. Rev. Neurol."},{"key":"2019051613101244000_ref65","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1159\/000446586","article-title":"Primary mitochondrial disease and secondary mitochondrial dysfunction: importance of distinction for diagnosis and treatment","volume":"7","author":"Niyazov","year":"2016","journal-title":"Mol. Syndromol."},{"key":"2019051613101244000_ref66","doi-asserted-by":"crossref","first-page":"4829180","DOI":"10.1155\/2017\/4829180","article-title":"Ethanolamine and phosphatidylethanolamine: partners in health and disease","volume":"2017","author":"Patel","year":"2017","journal-title":"Oxid. Med. Cell. Longev."},{"key":"2019051613101244000_ref67","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/S0005-2736(00)00192-9","article-title":"Formation and characterization of phosphatidylethanolamine\/lysophosphatidylcholine mixed vesicles","volume":"1467","author":"Sun","year":"2000","journal-title":"Biochim. Biophys. Acta"},{"key":"2019051613101244000_ref68","doi-asserted-by":"crossref","first-page":"2253","DOI":"10.1016\/j.bbamcr.2014.03.009","article-title":"New functions of mitochondria associated membranes in cellular signaling","volume":"1843","author":"Vliet","year":"2014","journal-title":"Biochim. Biophys. Acta"},{"key":"2019051613101244000_ref69","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1016\/j.cmet.2018.06.011","article-title":"Mitofusin 2 regulates axonal transport of calpastatin to prevent neuromuscular synaptic elimination in skeletal muscles","volume":"28","author":"Wang","year":"2018","journal-title":"Cell Metab."},{"key":"2019051613101244000_ref70","doi-asserted-by":"crossref","first-page":"1209","DOI":"10.1212\/01.WNL.0000156517.00615.A3","article-title":"Reliability and validity of the CMT neuropathy score as a measure of disability","volume":"64","author":"Shy","year":"2005","journal-title":"Neurology"},{"key":"2019051613101244000_ref71","doi-asserted-by":"crossref","first-page":"g459","DOI":"10.1136\/bmj.g459","article-title":"Chronic and slowly progressive weakness of the legs and hands","volume":"348","author":"Nightingale","year":"2014","journal-title":"BMJ"},{"key":"2019051613101244000_ref72","doi-asserted-by":"crossref","first-page":"4545","DOI":"10.1021\/jf9002686","article-title":"Quantitative PCR analysis for fruit juice authentication using PCR and laboratory-on-a-chip capillary electrophoresis according to the Hardy\u2013Weinberg law","volume":"57","author":"Scott","year":"2009","journal-title":"J. Agric. Food Chem."},{"key":"2019051613101244000_ref73","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/j.cell.2006.06.025","article-title":"OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion","volume":"126","author":"Frezza","year":"2006","journal-title":"Cell"},{"key":"2019051613101244000_ref74","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/j.bbrc.2017.04.088","article-title":"Who and how in the regulation of mitochondrial cristae shape and function","volume":"500","author":"Quintana-Cabrera","year":"2017","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"2019051613101244000_ref75","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1139\/y59-099","article-title":"A rapid method of total lipid extraction and purification","volume":"37","author":"Bligh","year":"1959","journal-title":"Can. J. Biochem. Physiol."},{"key":"2019051613101244000_ref76","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1101\/pdb.top066118","article-title":"The use of aequorin and its variants for Ca2+ measurements","volume":"2014","author":"Granatiero","year":"2014","journal-title":"Cold Spring Harb. Protoc."},{"key":"2019051613101244000_ref77","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1038\/nmeth.2019","article-title":"Fiji: an open-source platform for biological-image analysis","volume":"9","author":"Schindelin","year":"2012","journal-title":"Nat. Methods"},{"key":"2019051613101244000_ref78","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/j.mito.2015.07.001","article-title":"MitoLoc: a method for the simultaneous quantification of mitochondrial network morphology and membrane potential in single cells","volume":"24","author":"Vowinckel","year":"2015","journal-title":"Mitochondrion"},{"key":"2019051613101244000_ref79","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1038\/nmeth.2089","article-title":"NIH Image to ImageJ: 25 years of image analysis","volume":"9","author":"Schneider","year":"2012","journal-title":"Nat. Methods"},{"key":"2019051613101244000_ref80","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1523\/JNEUROSCI.2507-13.2014","article-title":"\u03b1-Synuclein is localized to mitochondria-associated ER membranes","volume":"34","author":"Guardia-Laguarta","year":"2014","journal-title":"J. Neurosci."}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/28\/11\/1782\/28659106\/ddz008.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,9,10]],"date-time":"2022-09-10T00:41:21Z","timestamp":1662770481000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/28\/11\/1782\/5288362"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1,11]]},"references-count":80,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2019,1,11]]},"published-print":{"date-parts":[[2019,6,1]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddz008","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2019,6,1]]},"published":{"date-parts":[[2019,1,11]]}}}