{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T16:07:56Z","timestamp":1785600476603,"version":"3.56.0"},"reference-count":42,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2020,8,20]],"date-time":"2020-08-20T00:00:00Z","timestamp":1597881600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurosci."],"DOI":"10.3389\/fnins.2020.00820","type":"journal-article","created":{"date-parts":[[2020,8,20]],"date-time":"2020-08-20T12:31:42Z","timestamp":1597926702000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":25,"title":["Mitochondrial Function in Hereditary Spastic Paraplegia: Deficits in SPG7 but Not SPAST Patient-Derived Stem Cells"],"prefix":"10.3389","volume":"14","author":[{"given":"Gautam","family":"Wali","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kishore Raj","family":"Kumar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erandhi","family":"Liyanage","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryan L.","family":"Davis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan","family":"Mackay-Sim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolyn M.","family":"Sue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2020,8,20]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"489","DOI":"10.1242\/dmm.010884","article-title":"A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations.","volume":"6","author":"Abrahamsen","year":"2013","journal-title":"Dis. Models Mech."},{"key":"B2","doi-asserted-by":"publisher","first-page":"692","DOI":"10.1002\/1873-3468.12964","article-title":"Role of mitochondrial ROS in the brain: from physiology to neurodegeneration.","volume":"592","author":"Angelova","year":"2018","journal-title":"FEBS Lett."},{"key":"B3","doi-asserted-by":"publisher","first-page":"777","DOI":"10.1083\/jcb.200304112","article-title":"Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia.","volume":"163","author":"Atorino","year":"2003","journal-title":"J. Cell Biol."},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.3390\/ijms18081812","article-title":"Regulation of mitochondrial structure and dynamics by the cytoskeleton and mechanical factors.","volume":"18","author":"Bartol\u00e1k-Suki","year":"2017","journal-title":"Int. J. Mol. Sci."},{"key":"B5","first-page":"617","article-title":"Functional evaluation of paraplegin mutations by a yeast complementation assay.","volume":"31","author":"Bonn","year":"2010","journal-title":"Hum. Mutat."},{"key":"B6","doi-asserted-by":"publisher","first-page":"1500","DOI":"10.1212\/01.wnl.0000319700.11606.21","article-title":"Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes.","volume":"71","author":"Brugman","year":"2008","journal-title":"Neurology"},{"key":"B7","doi-asserted-by":"publisher","first-page":"973","DOI":"10.1016\/s0092-8674(00)81203-9","article-title":"Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.","volume":"93","author":"Casari","year":"1998","journal-title":"Cell"},{"key":"B8","doi-asserted-by":"crossref","DOI":"10.1186\/s13024-018-0269-1","article-title":"Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.","volume":"13","author":"Dong","year":"2018","journal-title":"Mol. Neurodegener."},{"key":"B9","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1093\/hmg\/11.2.153","article-title":"Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics.","volume":"11","author":"Errico","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"B10","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1007\/978-1-62703-574-3_10","article-title":"Isolation of adult stem cells from the human olfactory mucosa","author":"F\u00e9ron","year":"2013","journal-title":"Neural Progenitor Cells: Methods and Protocols"},{"key":"B11","doi-asserted-by":"publisher","first-page":"861","DOI":"10.1001\/archotol.124.8.861","article-title":"NEw techniques for biopsy and culture of human olfactory epithelial neurons.","volume":"124","author":"F\u00e9ron","year":"1998","journal-title":"Arch. Otolaryngol. Head Neck Surg."},{"key":"B12","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1172\/jci200420138","article-title":"Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport.","volume":"113","author":"Ferreirinha","year":"2004","journal-title":"J. Clin. Investig."},{"key":"B13","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/1750-1326-7-22","article-title":"Regulation of mitochondrial permeability transition pore by PINK1.","volume":"7","author":"Gautier","year":"2012","journal-title":"Mol. Neurodegener."},{"key":"B14","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1016\/j.bbamcr.2011.09.015","article-title":"Mitochondrial AAA proteases \u2014 Towards a molecular understanding of membrane-bound proteolytic machines.","volume":"1823","author":"Gerdes","year":"2012","journal-title":"Biochim. Biophys. Acta Mol. Cell Res."},{"key":"B15","doi-asserted-by":"publisher","first-page":"730","DOI":"10.1007\/s00234-005-1415-3","article-title":"Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia.","volume":"47","author":"Hedera","year":"2005","journal-title":"Neuroradiology"},{"key":"B16","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1042\/bj3180401","article-title":"Altered mitochondrial function in fibroblasts containing MELAS or MERRF mitochondrial DNA mutations.","volume":"318","author":"James","year":"1996","journal-title":"Biochem. J."},{"key":"B17","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0006975","article-title":"Crystal structure of the ATPase domain of the human AAA+ protein paraplegin\/SPG7.","volume":"4","author":"Karlberg","year":"2009","journal-title":"PLoS One"},{"key":"B18","article-title":"Mitochondrial dysfunction in Parkinson\u2019s disease.","volume":"2011","author":"Keane","year":"2011","journal-title":"Parkinson Dis."},{"key":"B19","doi-asserted-by":"crossref","DOI":"10.1038\/srep44373","article-title":"Nix restores mitophagy and mitochondrial function to protect against PINK1\/Parkin-related Parkinson\u2019s disease.","volume":"7","author":"Koentjoro","year":"2017","journal-title":"Sci. Rep."},{"key":"B20","doi-asserted-by":"publisher","first-page":"2516","DOI":"10.1007\/s00415-013-7008-x","article-title":"Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.","volume":"260","author":"Kumar","year":"2013","journal-title":"J. Neurol."},{"key":"B21","doi-asserted-by":"publisher","first-page":"213","DOI":"10.1002\/mdc3.12184","article-title":"An update on the hereditary spastic paraplegias: new genes and new disease models.","volume":"2","author":"Kumar","year":"2015","journal-title":"Mov. Disord. Clin. Pract."},{"key":"B22","doi-asserted-by":"publisher","first-page":"279","DOI":"10.1016\/j.cmet.2013.07.005","article-title":"Loss of cytochrome c oxidase promotes RAS-dependent ROS production from the ER resident NADPH Oxidase, Yno1p, in yeast.","volume":"18","author":"Leadsham Jane","year":"2013","journal-title":"Cell Metab."},{"key":"B23","doi-asserted-by":"publisher","first-page":"785","DOI":"10.1242\/dmm.005447","article-title":"Disease-specific, neurosphere-derived cells as models for brain disorders.","volume":"3","author":"Matigian","year":"2010","journal-title":"Dis. Models Mech."},{"key":"B24","doi-asserted-by":"publisher","first-page":"485","DOI":"10.1097\/00001756-200303030-00038","article-title":"Investigation of mitochondrial function in hereditary spastic paraparesis.","volume":"14","author":"McDermott","year":"2003","journal-title":"NeuroReport"},{"key":"B25","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1016\/j.bbadis.2009.10.006","article-title":"Mitochondrial dysfunction is a trigger of Alzheimer\u2019s disease pathophysiology.","volume":"1802","author":"Moreira","year":"2010","journal-title":"Biochim. Biophys. Acta Mol. Basis Dis."},{"key":"B26","doi-asserted-by":"publisher","first-page":"555","DOI":"10.1002\/ana.21492","article-title":"Mitochondrial function and morphology are impaired in parkin-mutant fibroblasts.","volume":"64","author":"Mortiboys","year":"2008","journal-title":"Ann. Neurol."},{"key":"B27","doi-asserted-by":"publisher","first-page":"849","DOI":"10.1001\/archneur.61.6.849","article-title":"Hereditary spastic paraplegia: clinical genetic Study of 15 families.","volume":"61","author":"Orlacchio","year":"2004","journal-title":"Arch. Neurol."},{"key":"B28","doi-asserted-by":"crossref","DOI":"10.1038\/s41419-018-0365-8","article-title":"Loss of the Drosophila m-AAA mitochondrial protease paraplegin results in mitochondrial dysfunction, shortened lifespan, and neuronal and muscular degeneration.","volume":"9","author":"Pareek","year":"2018","journal-title":"Cell Death Dis."},{"key":"B29","doi-asserted-by":"publisher","first-page":"2802","DOI":"10.1093\/hmg\/ddt623","article-title":"Parkinson\u2019s disease-associated human ATP13A2 (PARK9) deficiency causes zinc dyshomeostasis and mitochondrial dysfunction.","volume":"23","author":"Park","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"B30","doi-asserted-by":"publisher","first-page":"4","DOI":"10.3109\/07853890.2011.605389","article-title":"Diagnosis and treatment of mitochondrial myopathies.","volume":"45","author":"Pfeffer","year":"2013","journal-title":"Ann. Med."},{"key":"B31","doi-asserted-by":"publisher","first-page":"1323","DOI":"10.1093\/brain\/awu060","article-title":"Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.","volume":"137","author":"Pfeffer","year":"2014","journal-title":"Brain"},{"key":"B32","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1038\/nrm3984","article-title":"New roles for mitochondrial proteases in health, ageing and disease.","volume":"16","author":"Quir\u00f3s","year":"2015","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"B33","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"B34","doi-asserted-by":"publisher","first-page":"1286","DOI":"10.1007\/s00415-012-6792-z","article-title":"The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry.","volume":"260","author":"Roxburgh","year":"2013","journal-title":"J. Neurol."},{"key":"B35","doi-asserted-by":"publisher","first-page":"1127","DOI":"10.1016\/s1474-4422(08)70258-8","article-title":"Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms.","volume":"7","author":"Salinas","year":"2008","journal-title":"Lancet Neurol."},{"key":"B36","doi-asserted-by":"publisher","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":"B37","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1016\/j.molcel.2015.08.009","article-title":"SPG7 is an essential and conserved component of the mitochondrial permeability transition pore.","volume":"60","author":"Shanmughapriya","year":"2015","journal-title":"Mol. Cell"},{"key":"B38","doi-asserted-by":"publisher","DOI":"10.3389\/fnins.2017.00737","article-title":"Parkinson\u2019s disease skin fibroblasts display signature alterations in growth, redox homeostasis, mitochondrial function, and autophagy.","volume":"11","author":"Teves","year":"2018","journal-title":"Front. Neurosci."},{"key":"B39","doi-asserted-by":"publisher","first-page":"25050","DOI":"10.3390\/ijms161025050","article-title":"Abnormal paraplegin expression in swollen neurites, \u03c4- and \u03b1-synuclein pathology in a case of hereditary spastic paraplegia SPG7 with an Ala510Val mutation.","volume":"16","author":"Thal","year":"2015","journal-title":"Int. J. Mol. Sci."},{"key":"B40","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1111\/j.1445-5994.2012.02941.x","article-title":"SPAST mutations in Australian patients with hereditary spastic paraplegia.","volume":"42","author":"Vandebona","year":"2012","journal-title":"Intern. Med. J."},{"key":"B41","doi-asserted-by":"publisher","first-page":"401","DOI":"10.3389\/fnins.2020.00401","article-title":"Oxidative stress-induced axon fragmentation is a consequence of reduced axonal transport in hereditary spastic paraplegia SPAST patient neurons.","volume":"14","author":"Wali","year":"2020","journal-title":"Front. Neurosci."},{"key":"B42","doi-asserted-by":"crossref","DOI":"10.1038\/srep27004","article-title":"Mechanism of impaired microtubule-dependent peroxisome trafficking and oxidative stress in SPAST-mutated cells from patients with Hereditary Spastic Paraplegia.","volume":"6","author":"Wali","year":"2016","journal-title":"Sci. Rep."}],"container-title":["Frontiers in Neuroscience"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fnins.2020.00820\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,8,20]],"date-time":"2020-08-20T12:31:53Z","timestamp":1597926713000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fnins.2020.00820\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8,20]]},"references-count":42,"alternative-id":["10.3389\/fnins.2020.00820"],"URL":"https:\/\/doi.org\/10.3389\/fnins.2020.00820","relation":{},"ISSN":["1662-453X"],"issn-type":[{"value":"1662-453X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,8,20]]},"article-number":"820"}}