{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T06:26:25Z","timestamp":1790490385210,"version":"4.1.0"},"reference-count":71,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2021,9,16]],"date-time":"2021-09-16T00:00:00Z","timestamp":1631750400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["16k07216"],"award-info":[{"award-number":["16k07216"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Life"],"abstract":"<jats:p>Duchenne muscular dystrophy (DMD) is a fatal muscle wasting disease caused by deficiency in dystrophin, a protein product encoded by the DMD gene. Mitochondrial dysfunction is now attracting much attention as a central player in DMD pathology. However, dystrophin has never been explored in human mitochondria. Here, we analyzed dystrophin in cDNAs and mitochondrial fractions of human cells. Mitochondrial fraction was obtained using a magnetic-associated cell sorting (MACS) technology. Dystrophin was analyzed by reverse transcription (RT)-PCR and western blotting using an antibody against the dystrophin C-terminal. In isolated mitochondrial fraction from HEK293 cells, dystrophin was revealed as a band corresponding to Dp71b and Dp71ab subisoforms. Additionally, in mitochondria from HeLa, SH-SY5Y, CCL-136 and HepG2 cells, signals for Dp71b and Dp71ab were revealed as well. Concomitantly, dystrophin mRNAs encoding Dp71b and Dp71ab were disclosed by RT-PCR in these cells. Primary cultured myocytes from three dystrophinopathy patients showed various levels of mitochondrial Dp71 expression. Coherently, levels of mRNA were different in all cells reflecting the protein content, which indicated predominant accumulation of Dp71. Dystrophin was demonstrated to be localized to human mitochondrial fraction, specifically as Dp71 subisoforms. Myocytes derived from dystrophinopathy patients manifested different levels of mitochondrial Dp71, with higher expression revealed in myocytes from Becker muscular dystrophy (BMD) patient-derived myocytes.<\/jats:p>","DOI":"10.3390\/life11090978","type":"journal-article","created":{"date-parts":[[2021,9,18]],"date-time":"2021-09-18T00:13:47Z","timestamp":1631924027000},"page":"978","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Dystrophin Dp71 Subisoforms Localize to the Mitochondria of Human Cells"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1311-3448","authenticated-orcid":false,"given":"Emma Tabe Eko","family":"Niba","sequence":"first","affiliation":[{"name":"Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9846-4142","authenticated-orcid":false,"given":"Hiroyuki","family":"Awano","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1064-1202","authenticated-orcid":false,"given":"Tomoko","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hyogo College of Medicine, Nishinomiya 663-8501, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6468-7185","authenticated-orcid":false,"given":"Yasuhiro","family":"Takeshima","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hyogo College of Medicine, Nishinomiya 663-8501, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masakazu","family":"Shinohara","sequence":"additional","affiliation":[{"name":"Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hisahide","family":"Nishio","sequence":"additional","affiliation":[{"name":"Department of Occupational Therapy, Faculty of Rehabilitation, Kobe Gakuin University, Kobe 651-2180, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6747-7194","authenticated-orcid":false,"given":"Masafumi","family":"Matsuo","sequence":"additional","affiliation":[{"name":"Department of Physical Therapy, Faculty of Rehabilitation, Kobe Gakuin University, Kobe 651-2180, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,9,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1152\/physrev.00028.2001","article-title":"Function and Genetics of Dystrophin and Dystrophin-Related Proteins in Muscle","volume":"82","author":"Blake","year":"2002","journal-title":"Physiol. Rev."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1016\/0092-8674(87)90504-6","article-title":"Complete Cloning of the Duchenne Muscular Dystrophy (DMD) CDNA and Preliminary Genomic Organization of the DMD Gene in Normal and Affected Individuals","volume":"50","author":"Koenig","year":"1987","journal-title":"Cell"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1016\/S1474-4422(03)00585-4","article-title":"Dystrophin and Mutations: One Gene, Several Proteins, Multiple Phenotypes","volume":"2","author":"Muntoni","year":"2003","journal-title":"Lancet Neurol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1038\/ng0493-283","article-title":"The Structural and Functional Diversity of Dystrophin","volume":"3","author":"Ahn","year":"1993","journal-title":"Nat. Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1186\/s13395-015-0062-6","article-title":"Dp412e: A Novel Human Embryonic Dystrophin Isoform Induced by BMP4 in Early Differentiated Cells","volume":"5","author":"Polentes","year":"2015","journal-title":"Skelet. Muscle"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.neulet.2015.05.038","article-title":"EF-Hand Domains Are Involved in the Differential Cellular Distribution of Dystrophin Dp40","volume":"600","author":"Ceja","year":"2015","journal-title":"Neurosci. Lett."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1093\/hmg\/4.5.837","article-title":"A Novel Dystrophin Isoform Is Required for Normal Retinal Electrophysiology","volume":"4","author":"Man","year":"1995","journal-title":"Hum. Mol. Genet."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1083\/jcb.122.4.809","article-title":"A Role for the Dystrophin-Glycoprotein Complex as a Transmembrane Linker between Laminin and Actin","volume":"122","author":"Ervasti","year":"1993","journal-title":"J. Cell Biol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1223","DOI":"10.1002\/cphy.c140048","article-title":"The Dystrophin Complex: Structure, Function, and Implications for Therapy","volume":"5","author":"Gao","year":"2015","journal-title":"Compr. Physiol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1078","DOI":"10.3892\/ijmm.2017.3082","article-title":"Mass Spectrometric Identification of Dystrophin, the Protein Product of the Duchenne Muscular Dystrophy Gene, in Distinct Muscle Surface Membranes","volume":"40","author":"Murphy","year":"2017","journal-title":"Int. J. Mol. Med."},{"key":"ref_11","doi-asserted-by":"crossref","unstructured":"Dowling, P., Gargan, S., Murphy, S., Zweyer, M., Sabir, H., Swandulla, D., and Ohlendieck, K. (2021). The Dystrophin Node as Integrator of Cytoskeletal Organization, Lateral Force Transmission, Fiber Stability and Cellular Signaling in Skeletal Muscle. Proteomes, 9.","DOI":"10.3390\/proteomes9010009"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1038\/322073a0","article-title":"Analysis of Deletions in DNA from Patients with Becker and Duchenne Muscular Dystrophy","volume":"322","author":"Kunkel","year":"1986","journal-title":"Nature"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1007\/s12035-011-8218-9","article-title":"Dystrophin Dp71: The Smallest but Multifunctional Product of the Duchenne Muscular Dystrophy Gene","volume":"45","author":"Tadayoni","year":"2012","journal-title":"Mol. Neurobiol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1748","DOI":"10.1007\/s12035-019-01845-w","article-title":"Dystrophin Dp71 and the Neuropathophysiology of Duchenne Muscular Dystrophy","volume":"57","author":"Naidoo","year":"2020","journal-title":"Mol. Neurobiol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"3939","DOI":"10.1093\/hmg\/ddv132","article-title":"Dystrophin Dp71 Gene Deletion Induces Retinal Vascular Inflammation and Capillary Degeneration","volume":"24","author":"Sene","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"954","DOI":"10.1016\/j.jmb.2006.07.075","article-title":"Dystrophin Dp71f Associates with the \u03921-Integrin Adhesion Complex to Modulate PC12 Cell Adhesion","volume":"362","author":"Cerna","year":"2006","journal-title":"J. Mol. Biol."},{"key":"ref_17","doi-asserted-by":"crossref","unstructured":"Villarreal-Silva, M., Centeno-Cruz, F., Su\u00e1rez-S\u00e1nchez, R., Garrido, E., and Cisneros, B. (2011). Knockdown of Dystrophin Dp71 Impairs PC12 Cells Cycle: Localization in the Spindle and Cytokinesis Structures Implies a Role for Dp71 in Cell Division. PLoS ONE, 6.","DOI":"10.1371\/journal.pone.0023504"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1016\/j.acthis.2019.01.002","article-title":"Effect of Dp71 Deficiency on the Oxytocin Hypothalamic Axis in Osmoregulation Function in Mice","volume":"121","author":"Benabdesselam","year":"2019","journal-title":"Acta Histochem."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1146\/annurev-genom-090314-025003","article-title":"The Pathogenesis and Therapy of Muscular Dystrophies","volume":"16","author":"Guiraud","year":"2015","journal-title":"Annu. Rev. Genom. Hum. Genet."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"148250","DOI":"10.1016\/j.bbabio.2020.148250","article-title":"Transport of Ca2+ and Ca2+-Dependent Permeability Transition in Heart Mitochondria in the Early Stages of Duchenne Muscular Dystrophy","volume":"1861","author":"Dubinin","year":"2020","journal-title":"Biochim. Biophys. Acta (BBA) Bioenerg."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/0306-9877(92)90087-S","article-title":"The Dystrophin Connection\u2014ATP?","volume":"38","author":"Bonsett","year":"1992","journal-title":"Med. Hypotheses"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"544","DOI":"10.3892\/ijmm.2013.1429","article-title":"Comparative Proteomic Profiling of Soleus, Extensor Digitorum Longus, Flexor Digitorum Brevis and Interosseus Muscles from the Mdx Mouse Model of Duchenne Muscular Dystrophy","volume":"32","author":"Carberry","year":"2013","journal-title":"Int. J. Mol. Med."},{"key":"ref_23","doi-asserted-by":"crossref","unstructured":"Rybalka, E., Timpani, C.A., Cooke, M.B., Williams, A.D., and Hayes, A. (2014). Defects in Mitochondrial ATP Synthesis in Dystrophin-Deficient Mdx Skeletal Muscles May Be Caused by Complex I Insufficiency. PLoS ONE, 9.","DOI":"10.1371\/journal.pone.0115763"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1016\/j.mehy.2015.08.015","article-title":"Revisiting the Dystrophin-ATP Connection: How Half a Century of Research Still Implicates Mitochondrial Dysfunction in Duchenne Muscular Dystrophy Aetiology","volume":"85","author":"Timpani","year":"2015","journal-title":"Med. Hypotheses"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1093\/hmg\/dds415","article-title":"Defects in Mitochondrial Localization and ATP Synthesis in the Mdx Mouse Model of Duchenne Muscular Dystrophy Are Not Alleviated by PDE5 Inhibition","volume":"22","author":"Percival","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1006\/bbrc.2000.3118","article-title":"Mitochondrial Expression of a Short Dystrophin-like Product with Molecular Weight of 71 KDa","volume":"274","author":"Harricane","year":"2000","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1007\/s00418-016-1439-2","article-title":"HEK293 Cells Express Dystrophin Dp71 with Nucleus-Specific Localization of Dp71ab","volume":"146","author":"Nishida","year":"2016","journal-title":"Histochem. Cell Biol."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"17123","DOI":"10.1038\/s41598-020-74157-y","article-title":"Dystrophin Dp71ab Is Monoclonally Expressed in Human Satellite Cells and Enhances Proliferation of Myoblast Cells","volume":"10","author":"Farea","year":"2020","journal-title":"Sci. Rep."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"1475","DOI":"10.1093\/hmg\/4.9.1475","article-title":"Cloning and Characterization of Alternatively Spliced Isoforms of Dp71","volume":"4","author":"Richard","year":"1995","journal-title":"Hum. Mol. Genet."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"1376","DOI":"10.1007\/s12035-017-0405-x","article-title":"Dystrophin Dp71 Isoforms Are Differentially Expressed in the Mouse Brain and Retina: Report of New Alternative Splicing and a Novel Nomenclature for Dp71 Isoforms","volume":"55","author":"Vacca","year":"2018","journal-title":"Mol. Neurobiol."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1097\/WNR.0000000000000475","article-title":"Overexpression of Mutant Dystrophin Dp71 [INCREMENT] 78\u201379 Stimulates Cell Proliferation","volume":"27","author":"Ceja","year":"2016","journal-title":"NeuroReport"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ab.2009.02.040","article-title":"Isolation of Functional Pure Mitochondria by Superparamagnetic Microbeads","volume":"389","author":"Bust","year":"2009","journal-title":"Anal. Biochem."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1007\/s00439-015-1581-2","article-title":"Neuronal SH-SY5Y Cells Use the C-Dystrophin Promoter Coupled with Exon 78 Skipping and Display Multiple Patterns of Alternative Splicing Including Two Intronic Insertion Events","volume":"134","author":"Nishida","year":"2015","journal-title":"Hum. Genet."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1038\/jhg.2015.24","article-title":"Tissue- and Case-Specific Retention of Intron 40 in Mature Dystrophin MRNA","volume":"60","author":"Nishida","year":"2015","journal-title":"J. Hum. Genet."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1186\/s12935-017-0428-4","article-title":"DMD Transcripts in CRL-2061 Rhabdomyosarcoma Cells Show High Levels of Intron Retention by Intron-Specific PCR Amplification","volume":"17","author":"Niba","year":"2017","journal-title":"Cancer Cell Int."},{"key":"ref_36","doi-asserted-by":"crossref","unstructured":"Gould, M.P., Bosworth, C.M., McMahon, S., Grandhi, S., Grimerg, B.T., and LaFramboise, T. (2015). PCR-Free Enrichment of Mitochondrial DNA from Human Blood and Cell Lines for High Quality Next-Generation DNA Sequencing. PLoS ONE, 10.","DOI":"10.1371\/journal.pone.0139253"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1016\/j.aca.2012.09.041","article-title":"Review on Recent Advances in the Analysis of Isolated Organelles","volume":"753","author":"Satori","year":"2012","journal-title":"Anal. Chim. Acta"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"3750","DOI":"10.1002\/smll.201400437","article-title":"Preparation of a Mitochondria-Targeted and NO-Releasing Nanoplatform and Its Enhanced Pro-Apoptotic Effect on Cancer Cells","volume":"10","author":"Xu","year":"2014","journal-title":"Small"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"21107","DOI":"10.1038\/srep21107","article-title":"Purity Matters: A Workflow for the Valid High-Resolution Lipid Profiling of Mitochondria from Cell Culture Samples","volume":"6","author":"Kappler","year":"2016","journal-title":"Sci. Rep."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1038\/cdd.2016.127","article-title":"Mitochondria Mediate Cell Membrane Repair and Contribute to Duchenne Muscular Dystrophy","volume":"24","author":"Vila","year":"2017","journal-title":"Cell Death Differ."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1002\/jcsm.12405","article-title":"Early Myopathy in Duchenne Muscular Dystrophy Is Associated with Elevated Mitochondrial H2O2 Emission during Impaired Oxidative Phosphorylation","volume":"10","author":"Hughes","year":"2019","journal-title":"J. Cachexia Sarcopenia Muscle"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"690","DOI":"10.3389\/fphys.2020.00690","article-title":"Mitochondrial Dysfunction Is an Early Consequence of Partial or Complete Dystrophin Loss in Mdx Mice","volume":"11","author":"Moore","year":"2020","journal-title":"Front. Physiol."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1038\/ng.2974","article-title":"Dystrophin Is a Tumor Suppressor in Human Cancers with Myogenic Programs","volume":"46","author":"Wang","year":"2014","journal-title":"Nat. Genet."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"16","DOI":"10.3109\/07357907.2015.1084002","article-title":"Knocking down Dp71 Expression in A549 Cells Reduces Its Malignancy in Vivo and in Vitro","volume":"34","author":"Tan","year":"2016","journal-title":"Cancer Investig."},{"key":"ref_45","doi-asserted-by":"crossref","unstructured":"Mauduit, O., Delcroix, V., Lesluyes, T., P\u00e9rot, G., Lagarde, P., Lartigue, L., Blay, J.-Y., and Chibon, F. (2019). Recurrent DMD Deletions Highlight Specific Role of Dp71 Isoform in Soft-Tissue Sarcomas. Cancers, 11.","DOI":"10.3390\/cancers11070922"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1007\/s00381-006-0260-y","article-title":"Medulloblastoma in a Child with Duchenne Muscular Dystrophy","volume":"23","author":"Doddihal","year":"2007","journal-title":"Childs Nerv. Syst."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"21","DOI":"10.3171\/2012.3.PEDS11152","article-title":"Anaplastic Medulloblastoma in a Child with Duchenne Muscular Dystrophy: Case Report","volume":"10","author":"Northcott","year":"2012","journal-title":"PED"},{"key":"ref_48","first-page":"1","article-title":"Pilocytic Astrocytoma Tissue from a 25-Year-Old Patient with Duchenne Muscular Dystrophy Expresses the DMD Transcript but Not Protein","volume":"3","author":"Niba","year":"2020","journal-title":"Clin. Res. Pediatr."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1038\/ncomms1306","article-title":"Chemical Treatment Enhances Skipping of a Mutated Exon in the Dystrophin Gene","volume":"2","author":"Nishida","year":"2011","journal-title":"Nat. Commun."},{"key":"ref_50","doi-asserted-by":"crossref","unstructured":"Radley-Crabb, H.G., Marini, J.C., Sosa, H.A., Castillo, L.I., Grounds, M.D., and Fiorotto, M.L. (2014). Dystropathology Increases Energy Expenditure and Protein Turnover in the Mdx Mouse Model of Duchenne Muscular Dystrophy. PLoS ONE, 9.","DOI":"10.1371\/journal.pone.0089277"},{"key":"ref_51","doi-asserted-by":"crossref","unstructured":"Kawaguchi, T., Niba, E., Rani, A., Onishi, Y., Koizumi, M., Awano, H., Matsumoto, M., Nagai, M., Yoshida, S., and Sakakibara, S. (2018). Detection of Dystrophin Dp71 in Human Skeletal Muscle Using an Automated Capillary Western Assay System. Int. J. Mol. Sci., 19.","DOI":"10.3390\/ijms19061546"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"3779","DOI":"10.1093\/hmg\/ddp320","article-title":"Analysis of Dp71 Contribution in the Severity of Mental Retardation through Comparison of Duchenne and Becker Patients Differing by Mutation Consequences on Dp71 Expression","volume":"18","author":"Daoud","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1016\/j.neubiorev.2014.01.012","article-title":"Mitochondrial Dysfunction as a Central Actor in Intellectual Disability-Related Diseases: An Overview of Down Syndrome, Autism, Fragile X and Rett Syndrome","volume":"46","author":"Valenti","year":"2014","journal-title":"Neurosci. Biobehav. Rev."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1111\/dmcn.12922","article-title":"Neurodevelopmental, Emotional, and Behavioural Problems in Duchenne Muscular Dystrophy in Relation to Underlying Dystrophin Gene Mutations","volume":"58","author":"Ricotti","year":"2016","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/j.spen.2013.10.008","article-title":"Mitochondrial Dysfunction in Autism","volume":"20","author":"Legido","year":"2013","journal-title":"Semin. Pediatr. Neurol."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1136\/archdischild-2015-308654","article-title":"Short Stature and Pubertal Delay in Duchenne Muscular Dystrophy","volume":"101","author":"Wood","year":"2016","journal-title":"Arch. Dis. Child."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1111\/j.1651-2227.1999.tb01270.x","article-title":"Short Stature in Duchenne Muscular Dystrophy: A Study of 34 Patients","volume":"88","author":"Nagel","year":"1999","journal-title":"Acta Paediatr."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1016\/j.nmd.2017.06.007","article-title":"Patients with Duchenne Muscular Dystrophy Are Significantly Shorter than Those with Becker Muscular Dystrophy, with the Higher Incidence of Short Stature in Dp71 Mutated Subgroup","volume":"27","author":"Matsumoto","year":"2017","journal-title":"Neuromuscul. Disord."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"D1541","DOI":"10.1093\/nar\/gkaa1011","article-title":"MitoCarta3.0: An Updated Mitochondrial Proteome Now with Sub-Organelle Localization and Pathway Annotations","volume":"49","author":"Rath","year":"2021","journal-title":"Nucleic Acids Res."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"137","DOI":"10.3389\/fcell.2020.00137","article-title":"Exploring the HeLa Dark Mitochondrial Proteome","volume":"8","author":"Marini","year":"2020","journal-title":"Front. Cell Dev. Biol."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"1766","DOI":"10.1074\/mcp.RA118.000554","article-title":"Quantifying and Localizing the Mitochondrial Proteome Across Five Tissues in A Mouse Population","volume":"17","author":"Williams","year":"2018","journal-title":"Mol. Cell. Proteom."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"D1258","DOI":"10.1093\/nar\/gkv1001","article-title":"MitoMiner v3.1, an Update on the Mitochondrial Proteomics Database","volume":"44","author":"Smith","year":"2016","journal-title":"Nucleic Acids Res."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"1046","DOI":"10.1016\/j.jprot.2009.06.011","article-title":"Proteome Profile of Functional Mitochondria from Human Skeletal Muscle Using One-Dimensional Gel Electrophoresis and HPLC-ESI-MS\/MS","volume":"72","author":"Lefort","year":"2009","journal-title":"J. Proteom."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"D1251","DOI":"10.1093\/nar\/gkv1003","article-title":"MitoCarta2.0: An Updated Inventory of Mammalian Mitochondrial Proteins","volume":"44","author":"Calvo","year":"2016","journal-title":"Nucleic Acids Res."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"1145","DOI":"10.1016\/j.cell.2012.02.035","article-title":"Mitochondria: In Sickness and in Health","volume":"148","author":"Nunnari","year":"2012","journal-title":"Cell"},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/j.addr.2020.09.010","article-title":"Power of Mitochondrial Drug Delivery Systems to Produce Innovative Nanomedicines","volume":"154\u2013155","author":"Yamada","year":"2020","journal-title":"Adv. Drug Deliv. Rev."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1016\/j.jconrel.2015.10.023","article-title":"Delivery of Drugs and Macromolecules to the Mitochondria for Cancer Therapy","volume":"240","author":"Lu","year":"2016","journal-title":"J. Control. Release"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1016\/j.cca.2020.02.015","article-title":"Expression of the Organic Cation\/Carnitine Transporter Family (Octn1,-2 and-3) in Mdx Muscle and Heart: Implications for Early Carnitine Therapy in Duchenne Muscular Dystrophy to Improve Cellular Carnitine Homeostasis","volume":"505","author":"Lamhonwah","year":"2020","journal-title":"Clin. Chim. Acta"},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"3439","DOI":"10.1093\/hmg\/ddp288","article-title":"Loss of Positive Allosteric Interactions between Neuronal Nitric Oxide Synthase and Phosphofructokinase Contributes to Defects in Glycolysis and Increased Fatigability in Muscular Dystrophy","volume":"18","author":"Oltmann","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1080\/14789450.2020.1732214","article-title":"Proteomic Profiling of Fatty Acid Binding Proteins in Muscular Dystrophy","volume":"17","author":"Dowling","year":"2020","journal-title":"Expert Rev. Proteom."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"1986","DOI":"10.1038\/s41598-019-38609-4","article-title":"Reduced Mitochondrial Respiration and Increased Calcium Deposits in the EDL Muscle, but Not in Soleus, from 12-Week-Old Dystrophic Mdx Mice","volume":"9","author":"Gaglianone","year":"2019","journal-title":"Sci. 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