{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T06:46:23Z","timestamp":1790664383193,"version":"4.1.0"},"reference-count":31,"publisher":"National Academy of Sciences","issue":"33","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2013,8,13]]},"abstract":"<jats:p>\n                    Isolated methylmalonic acidemia (MMA), caused by deficiency of the mitochondrial enzyme methylmalonyl-CoA mutase (MUT), is often complicated by end stage renal disease that is resistant to conventional therapies, including liver transplantation. To establish a viable model of MMA renal disease,\n                    <jats:italic>Mut<\/jats:italic>\n                    was expressed in the liver of\n                    <jats:italic>Mut<\/jats:italic>\n                    <jats:sup>\u2212\/\u2212<\/jats:sup>\n                    mice as a stable transgene under the control of an albumin (INS-Alb-\n                    <jats:italic>Mut<\/jats:italic>\n                    ) promoter.\n                    <jats:italic>Mut<\/jats:italic>\n                    <jats:sup>\u2212\/\u2212<\/jats:sup>\n                    ;Tg\n                    <jats:sup>\n                      INS-Alb-\n                      <jats:italic>Mut<\/jats:italic>\n                    <\/jats:sup>\n                    mice, although completely rescued from neonatal lethality that was displayed by\n                    <jats:italic>Mut<\/jats:italic>\n                    <jats:sup>\u2212\/\u2212<\/jats:sup>\n                    mice, manifested a decreased glomerular filtration rate (GFR), chronic tubulointerstitial nephritis and ultrastructural changes in the proximal tubule mitochondria associated with aberrant tubular function, as demonstrated by single-nephron GFR studies. Microarray analysis of\n                    <jats:italic>Mut<\/jats:italic>\n                    <jats:sup>\u2212\/\u2212<\/jats:sup>\n                    ;Tg\n                    <jats:sup>\n                      INS-Alb-\n                      <jats:italic>Mut<\/jats:italic>\n                    <\/jats:sup>\n                    kidneys identified numerous biomarkers, including lipocalin-2, which was then used to monitor the response of the GFR to antioxidant therapy in the mouse model. Renal biopsies and biomarker analysis from a large and diverse patient cohort (\n                    <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"http:\/\/ClinicalTrials.gov\" xlink:show=\"new\">ClinicalTrials.gov<\/jats:ext-link>\n                    identifier: NCT00078078) precisely replicated the findings in the animals, establishing\n                    <jats:italic>Mut<\/jats:italic>\n                    <jats:sup>\u2212\/\u2212<\/jats:sup>\n                    ;Tg\n                    <jats:sup>\n                      INS-Alb-\n                      <jats:italic>Mut<\/jats:italic>\n                    <\/jats:sup>\n                    mice as a unique model of MMA renal disease. Our studies suggest proximal tubular mitochondrial dysfunction is a key pathogenic mechanism of MMA-associated kidney disease, identify lipocalin-2 as a biomarker of increased oxidative stress in the renal tubule, and demonstrate that antioxidants can attenuate the renal disease of MMA.\n                  <\/jats:p>","DOI":"10.1073\/pnas.1302764110","type":"journal-article","created":{"date-parts":[[2013,7,30]],"date-time":"2013-07-30T00:11:18Z","timestamp":1375143078000},"page":"13552-13557","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":117,"title":["Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia"],"prefix":"10.1073","volume":"110","author":[{"given":"Irini","family":"Manoli","sequence":"first","affiliation":[{"name":"Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD 20892;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justin R.","family":"Sysol","sequence":"additional","affiliation":[{"name":"Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD 20892;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lingli","family":"Li","sequence":"additional","affiliation":[{"name":"Kidney Disease Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD 20814;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Houillier","sequence":"additional","affiliation":[{"name":"Kidney Disease Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD 20814;"},{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Unit\u00e9 Mixte de Recherche_S 872, Department of Physiology, Georges Pompidou European Hospital, Assistance Publique\u2013H\u00f4pitaux de Paris, Paris Descartes University, 75015 Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caterina","family":"Garone","sequence":"additional","affiliation":[{"name":"Columbia University Medical Center, College of Physicians and Surgeons, Columbia University, New York, NY 10032;"},{"name":"Human Genetics Joint PhD Program, University of Bologna and Turin, 10126 Turin, Italy;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cindy","family":"Wang","sequence":"additional","affiliation":[{"name":"Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD 20892;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia M.","family":"Zerfas","sequence":"additional","affiliation":[{"name":"Office of Research Services, Division of Veterinary Resources, NIH, Bethesda, MD 20892;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristina","family":"Cusmano-Ozog","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Stanford University, Stanford, CA 94305;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Young","sequence":"additional","affiliation":[{"name":"Biochemical Genetics Laboratory, Division of Medical Genetics, Duke University Medical Center, Durham, NC 27713;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niraj S.","family":"Trivedi","sequence":"additional","affiliation":[{"name":"Genome Technology Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Cheng","sequence":"additional","affiliation":[{"name":"Embryonic Stem Cell and Transgenic Mouse Core Facility, National Human Genome Research Institute, NIH, Bethesda, MD 20892;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer L.","family":"Sloan","sequence":"additional","affiliation":[{"name":"Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD 20892;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Randy J.","family":"Chandler","sequence":"additional","affiliation":[{"name":"Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD 20892;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mones","family":"Abu-Asab","sequence":"additional","affiliation":[{"name":"Ultrastructural Pathology Section, Center for Cancer Research, NIH, Bethesda, MD 20892;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Tsokos","sequence":"additional","affiliation":[{"name":"Ultrastructural Pathology Section, Center for Cancer Research, NIH, Bethesda, MD 20892;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdel G.","family":"Elkahloun","sequence":"additional","affiliation":[{"name":"Cancer Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seymour","family":"Rosen","sequence":"additional","affiliation":[{"name":"Department of Pathology, Beth Israel Deaconess Medical Center, Boston, MA 02215; and"},{"name":"Department of Pathology and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregory M.","family":"Enns","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Stanford University, Stanford, CA 94305;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerard T.","family":"Berry","sequence":"additional","affiliation":[{"name":"Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria","family":"Hoffmann","sequence":"additional","affiliation":[{"name":"Office of Research Services, Division of Veterinary Resources, NIH, Bethesda, MD 20892;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salvatore","family":"DiMauro","sequence":"additional","affiliation":[{"name":"Columbia University Medical Center, College of Physicians and Surgeons, Columbia University, New York, NY 10032;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jurgen","family":"Schnermann","sequence":"additional","affiliation":[{"name":"Kidney Disease Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD 20814;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles P.","family":"Venditti","sequence":"additional","affiliation":[{"name":"Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD 20892;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2013,7,29]]},"reference":[{"key":"e_1_3_4_1_2","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1007\/BF00444131","article-title":"Chronic renal failure in methylmalonic acidaemia","volume":"148","author":"Walter JH","year":"1989","unstructured":"JH Walter, et al., Chronic renal failure in methylmalonic acidaemia. Eur J Pediatr 148, 344\u2013348 (1989).","journal-title":"Eur J Pediatr"},{"key":"e_1_3_4_2_2","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1056\/NEJM198304143081501","article-title":"The natural history of the inherited methylmalonic acidemias","volume":"308","author":"Matsui SM","year":"1983","unstructured":"SM Matsui, MJ Mahoney, LE Rosenberg, The natural history of the inherited methylmalonic acidemias. N Engl J Med 308, 857\u2013861 (1983).","journal-title":"N Engl J Med"},{"key":"e_1_3_4_3_2","unstructured":"Manoli I Venditti CP (2005) Methylmalonic acidemia. GeneReviews eds Pagon RA et al. (University of Washington Seattle WA)."},{"key":"e_1_3_4_4_2","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1007\/BF01955526","article-title":"Renal tubular dysfunction in methylmalonic acidaemia","volume":"150","author":"D\u2019Angio CT","year":"1991","unstructured":"CT D\u2019Angio, MJ Dillon, JV Leonard, Renal tubular dysfunction in methylmalonic acidaemia. Eur J Pediatr 150, 259\u2013263 (1991).","journal-title":"Eur J Pediatr"},{"key":"e_1_3_4_5_2","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1203\/PDR.0b013e3180a0325f","article-title":"Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB)","volume":"62","author":"H\u00f6rster F","year":"2007","unstructured":"F H\u00f6rster, et al., Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB). Pediatr Res 62, 225\u2013230 (2007).","journal-title":"Pediatr Res"},{"key":"e_1_3_4_6_2","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1136\/adc.42.225.492","article-title":"Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis","volume":"42","author":"Oberholzer VG","year":"1967","unstructured":"VG Oberholzer, B Levin, EA Burgess, WF Young, Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis. Arch Dis Child 42, 492\u2013504 (1967).","journal-title":"Arch Dis Child"},{"key":"e_1_3_4_7_2","doi-asserted-by":"crossref","first-page":"47","DOI":"10.3945\/ajcn.110.004341","article-title":"Variable dietary management of methylmalonic acidemia: Metabolic and energetic correlations","volume":"93","author":"Hauser NS","year":"2011","unstructured":"NS Hauser, I Manoli, JC Graf, J Sloan, CP Venditti, Variable dietary management of methylmalonic acidemia: Metabolic and energetic correlations. Am J Clin Nutr 93, 47\u201356 (2011).","journal-title":"Am J Clin Nutr"},{"key":"e_1_3_4_8_2","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1007\/s00431-002-0970-4","article-title":"Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver","volume":"161","author":"Nyhan WL","year":"2002","unstructured":"WL Nyhan, JJ Gargus, K Boyle, R Selby, R Koch, Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver. Eur J Pediatr 161, 377\u2013379 (2002).","journal-title":"Eur J Pediatr"},{"key":"e_1_3_4_9_2","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1186\/1471-2350-8-64","article-title":"Metabolic phenotype of methylmalonic acidemia in mice and humans: The role of skeletal muscle","volume":"8","author":"Chandler RJ","year":"2007","unstructured":"RJ Chandler, et al., Metabolic phenotype of methylmalonic acidemia in mice and humans: The role of skeletal muscle. BMC Med Genet 8, 64 (2007).","journal-title":"BMC Med Genet"},{"key":"e_1_3_4_10_2","doi-asserted-by":"crossref","first-page":"52909","DOI":"10.1074\/jbc.M310533200","article-title":"A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality","volume":"278","author":"Peters H","year":"2003","unstructured":"H Peters, et al., A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality. J Biol Chem 278, 52909\u201352913 (2003).","journal-title":"J Biol Chem"},{"key":"e_1_3_4_11_2","doi-asserted-by":"crossref","first-page":"1252","DOI":"10.1096\/fj.08-121848","article-title":"Mitochondrial dysfunction in mut methylmalonic acidemia","volume":"23","author":"Chandler RJ","year":"2009","unstructured":"RJ Chandler, et al., Mitochondrial dysfunction in mut methylmalonic acidemia. FASEB J 23, 1252\u20131261 (2009).","journal-title":"FASEB J"},{"key":"e_1_3_4_12_2","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1089\/hum.2007.0118","article-title":"Adenovirus-mediated gene delivery rescues a neonatal lethal murine model of mut(0) methylmalonic acidemia","volume":"19","author":"Chandler RJ","year":"2008","unstructured":"RJ Chandler, CP Venditti, Adenovirus-mediated gene delivery rescues a neonatal lethal murine model of mut(0) methylmalonic acidemia. Hum Gene Ther 19, 53\u201360 (2008).","journal-title":"Hum Gene Ther"},{"key":"e_1_3_4_13_2","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1038\/mt.2009.247","article-title":"Long-term rescue of a lethal murine model of methylmalonic acidemia using adeno-associated viral gene therapy","volume":"18","author":"Chandler RJ","year":"2010","unstructured":"RJ Chandler, CP Venditti, Long-term rescue of a lethal murine model of methylmalonic acidemia using adeno-associated viral gene therapy. Mol Ther 18, 11\u201316 (2010).","journal-title":"Mol Ther"},{"key":"e_1_3_4_14_2","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1681\/ASN.V441073","article-title":"Impaired urinary ammonium excretion in patients with isolated proximal renal tubular acidosis","volume":"4","author":"Brenes LG","year":"1993","unstructured":"LG Brenes, MI Sanchez, Impaired urinary ammonium excretion in patients with isolated proximal renal tubular acidosis. J Am Soc Nephrol 4, 1073\u20131078 (1993).","journal-title":"J Am Soc Nephrol"},{"key":"e_1_3_4_15_2","doi-asserted-by":"crossref","first-page":"2534","DOI":"10.1097\/01.ASN.0000088027.54400.C6","article-title":"Identification of neutrophil gelatinase-associated lipocalin as a novel early urinary biomarker for ischemic renal injury","volume":"14","author":"Mishra J","year":"2003","unstructured":"J Mishra, et al., Identification of neutrophil gelatinase-associated lipocalin as a novel early urinary biomarker for ischemic renal injury. J Am Soc Nephrol 14, 2534\u20132543 (2003).","journal-title":"J Am Soc Nephrol"},{"key":"e_1_3_4_16_2","doi-asserted-by":"crossref","first-page":"1243","DOI":"10.1016\/S0002-9440(10)63384-6","article-title":"Urinary excretion of fatty acid-binding protein reflects stress overload on the proximal tubules","volume":"165","author":"Kamijo A","year":"2004","unstructured":"A Kamijo, et al., Urinary excretion of fatty acid-binding protein reflects stress overload on the proximal tubules. Am J Pathol 165, 1243\u20131255 (2004).","journal-title":"Am J Pathol"},{"key":"e_1_3_4_17_2","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1046\/j.1523-1755.2002.00433.x","article-title":"Kidney Injury Molecule-1 (KIM-1): A novel biomarker for human renal proximal tubule injury","volume":"62","author":"Han WK","year":"2002","unstructured":"WK Han, V Bailly, R Abichandani, R Thadhani, JV Bonventre, Kidney Injury Molecule-1 (KIM-1): A novel biomarker for human renal proximal tubule injury. Kidney Int 62, 237\u2013244 (2002).","journal-title":"Kidney Int"},{"key":"e_1_3_4_18_2","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1146\/annurev.pharmtox.45.120403.100045","article-title":"Regulation and inhibition of arachidonic acid omega-hydroxylases and 20-HETE formation","volume":"45","author":"Kroetz DL","year":"2005","unstructured":"DL Kroetz, F Xu, Regulation and inhibition of arachidonic acid omega-hydroxylases and 20-HETE formation. Annu Rev Pharmacol Toxicol 45, 413\u2013438 (2005).","journal-title":"Annu Rev Pharmacol Toxicol"},{"key":"e_1_3_4_19_2","doi-asserted-by":"crossref","DOI":"10.1007\/s10545-010-9084-8","article-title":"Optic neuropathy in methylmalonic acidemia: The role of neuroprotection","author":"Pinar-Sueiro S","year":"2010","unstructured":"S Pinar-Sueiro, R Mart\u00ednez-Fern\u00e1ndez, S Lage-Medina, L Aldamiz-Echevarria, E Vecino, Optic neuropathy in methylmalonic acidemia: The role of neuroprotection. J Inherit Metab Dis, 2010).","journal-title":"J Inherit Metab Dis"},{"key":"e_1_3_4_20_2","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1016\/j.bbadis.2006.03.004","article-title":"Dose ranging and efficacy study of high-dose coenzyme Q10 formulations in Huntington\u2019s disease mice","volume":"1762","author":"Smith KM","year":"2006","unstructured":"KM Smith, et al., Dose ranging and efficacy study of high-dose coenzyme Q10 formulations in Huntington\u2019s disease mice. Biochim Biophys Acta 1762, 616\u2013626 (2006).","journal-title":"Biochim Biophys Acta"},{"key":"e_1_3_4_21_2","doi-asserted-by":"crossref","first-page":"31","DOI":"10.3109\/01677068509100141","article-title":"Proximal renal tubular acidosis in methylmalonic acidemia","volume":"2","author":"Wolff JA","year":"1985","unstructured":"JA Wolff, et al., Proximal renal tubular acidosis in methylmalonic acidemia. J Neurogenet 2, 31\u201339 (1985).","journal-title":"J Neurogenet"},{"key":"e_1_3_4_22_2","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1203\/00006450-199804001-01838","article-title":"Chronic administration of methylmalonic acid (MMA) to rats causes proteinuria and renal tubular injury","volume":"43","author":"Kashtan CE","year":"1998","unstructured":"CE Kashtan, et al., Chronic administration of methylmalonic acid (MMA) to rats causes proteinuria and renal tubular injury. Pediatr Res 43, 309 (1998).","journal-title":"Pediatr Res"},{"key":"e_1_3_4_23_2","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.1089\/hum.2010.008","article-title":"Liver-directed recombinant adeno-associated viral gene delivery rescues a lethal mouse model of methylmalonic acidemia and provides long-term phenotypic correction","volume":"21","author":"Carrillo-Carrasco N","year":"2010","unstructured":"N Carrillo-Carrasco, RJ Chandler, S Chandrasekaran, CP Venditti, Liver-directed recombinant adeno-associated viral gene delivery rescues a lethal mouse model of methylmalonic acidemia and provides long-term phenotypic correction. Hum Gene Ther 21, 1147\u20131154 (2010).","journal-title":"Hum Gene Ther"},{"key":"e_1_3_4_24_2","article-title":"Renal transplantation in 4 patients with methylmalonic aciduria: A cell therapy for metabolic disease","author":"Brassier A","year":"2013","unstructured":"A Brassier, et al., Renal transplantation in 4 patients with methylmalonic aciduria: A cell therapy for metabolic disease. Mol Genet Metab, 10.1016\/j.ymgme.2013.05.001, 2013).","journal-title":"Mol Genet Metab, 10.1016\/j.ymgme.2013.05.001"},{"key":"e_1_3_4_25_2","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1002\/mus.10194","article-title":"Mitochondrial abnormalities in muscle and other aging cells: Classification, causes, and effects","volume":"26","author":"DiMauro S","year":"2002","unstructured":"S DiMauro, K Tanji, E Bonilla, F Pallotti, EA Schon, Mitochondrial abnormalities in muscle and other aging cells: Classification, causes, and effects. Muscle Nerve 26, 597\u2013607 (2002).","journal-title":"Muscle Nerve"},{"key":"e_1_3_4_26_2","doi-asserted-by":"crossref","first-page":"10425","DOI":"10.1016\/S0021-9258(18)82217-7","article-title":"Isolation and primary structure of NGAL, a novel protein associated with human neutrophil gelatinase","volume":"268","author":"Kjeldsen L","year":"1993","unstructured":"L Kjeldsen, AH Johnsen, H Sengel\u00f8v, N Borregaard, Isolation and primary structure of NGAL, a novel protein associated with human neutrophil gelatinase. J Biol Chem 268, 10425\u201310432 (1993).","journal-title":"J Biol Chem"},{"key":"e_1_3_4_27_2","doi-asserted-by":"crossref","first-page":"4065","DOI":"10.1172\/JCI42004","article-title":"Lipocalin 2 is essential for chronic kidney disease progression in mice and humans","volume":"120","author":"Viau A","year":"2010","unstructured":"A Viau, et al., Lipocalin 2 is essential for chronic kidney disease progression in mice and humans. J Clin Invest 120, 4065\u20134076 (2010).","journal-title":"J Clin Invest"},{"key":"e_1_3_4_28_2","doi-asserted-by":"crossref","first-page":"e1000061","DOI":"10.1371\/journal.pgen.1000061","article-title":"Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease","volume":"4","author":"Peng M","year":"2008","unstructured":"M Peng, et al., Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease. PLoS Genet 4, e1000061 (2008).","journal-title":"PLoS Genet"},{"key":"e_1_3_4_29_2","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1007\/s10545-009-1150-8","article-title":"Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria","volume":"32","author":"Haas D","year":"2009","unstructured":"D Haas, et al., Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria. J Inherit Metab Dis 32, 570\u2013575 (2009).","journal-title":"J Inherit Metab Dis"},{"key":"e_1_3_4_30_2","doi-asserted-by":"crossref","first-page":"3941","DOI":"10.1073\/pnas.0813409106","article-title":"Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia","volume":"106","author":"Atkuri KR","year":"2009","unstructured":"KR Atkuri, et al., Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia. Proc Natl Acad Sci USA 106, 3941\u20133945 (2009).","journal-title":"Proc Natl Acad Sci USA"},{"key":"e_1_3_4_31_2","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1161\/01.ATV.21.4.585","article-title":"Dietary cosupplementation with vitamin E and coenzyme Q(10) inhibits atherosclerosis in apolipoprotein E gene knockout mice","volume":"21","author":"Thomas SR","year":"2001","unstructured":"SR Thomas, et al., Dietary cosupplementation with vitamin E and coenzyme Q(10) inhibits atherosclerosis in apolipoprotein E gene knockout mice. Arterioscler Thromb Vasc Biol 21, 585\u2013593 (2001).","journal-title":"Arterioscler Thromb Vasc Biol"}],"container-title":["Proceedings of the National Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/pnas.org\/doi\/pdf\/10.1073\/pnas.1302764110","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,6,7]],"date-time":"2022-06-07T05:49:15Z","timestamp":1654580955000},"score":1,"resource":{"primary":{"URL":"https:\/\/pnas.org\/doi\/full\/10.1073\/pnas.1302764110"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,7,29]]},"references-count":31,"journal-issue":{"issue":"33","published-print":{"date-parts":[[2013,8,13]]}},"alternative-id":["10.1073\/pnas.1302764110"],"URL":"https:\/\/doi.org\/10.1073\/pnas.1302764110","relation":{},"ISSN":["0027-8424","1091-6490"],"issn-type":[{"value":"0027-8424","type":"print"},{"value":"1091-6490","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,7,29]]},"assertion":[{"value":"2013-07-29","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}