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Review

Renal manifestations of genetic mitochondrial disease

Pages 57-67 | Published online: 31 Jan 2014

Keep up to date with the latest research on this topic with citation updates for this article.

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Toshiyuki Imasawa, Masashi Tanaka, Yutaka Yamaguchi, Takashi Nakazato, Hiroshi Kitamura & Motonobu Nishimura. (2014) 7501 T > A mitochondrial DNA variant in a patient with glomerulosclerosis. Renal Failure 36:9, pages 1461-1465.
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Mengru Gu, Mengzhu Tan, Lu Zhou, Xiaoli Sun, Qingmiao Lu, Mingjie Wang, Hanlu Jiang, Yan Liang, Qing Hou, Xian Xue, Zhuo Xu & Chunsun Dai. (2022) Protein phosphatase 2Acα modulates fatty acid oxidation and glycolysis to determine tubular cell fate and kidney injury. Kidney International 102:2, pages 321-336.
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Ahmad M. Aldossary, Essam A. Tawfik, Mohammed N. Alomary, Samar A. Alsudir, Ahmed J. Alfahad, Abdullah A. Alshehri, Fahad A. Almughem, Rean Y. Mohammed & Mai M. Alzaydi. (2022) Recent advances in mitochondrial diseases: From molecular insights to therapeutic perspectives. Saudi Pharmaceutical Journal 30:8, pages 1065-1078.
Crossref
Yi Shiau Ng, Albert Zishen Lim, Grigorios Panagiotou, Doug M Turnbull & Mark Walker. (2022) Endocrine Manifestations and New Developments in Mitochondrial Disease. Endocrine Reviews 43:3, pages 583-609.
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Maria Parasyri, Per Brandström, Johanna Uusimaa, Elsebet Ostergaard, Omar Hikmat, Pirjo Isohanni, Karin Naess, I.F.M. de Coo, Andrés Nascimento Osorio, Matti Nuutinen, Christopher Lindberg, Laurence A. Bindoff, Már Tulinius, Niklas Darin & Kalliopi Sofou. (2022) Renal Phenotype in Mitochondrial Diseases: A Multicenter Study. Kidney Diseases 8:2, pages 148-159.
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Carolyn M. Sue, Shanti Balasubramaniam, Drago Bratkovic, Catherine Bonifant, John Christodoulou, David Coman, Karen Crawley, Fabienne Edema‐Hildebrand, Carolyn Ellaway, Roula Ghaoui, Maina Kava, Lisa S. Kearns, Joy Lee, Christina Liang, David A. Mackey, Sean Murray, Merrilee Needham, Rocio Rius, Jacqui Russell, Nicholas J.C. Smith, Dominic Thyagarajan & Christine Wools. (2021) Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations. Internal Medicine Journal 52:1, pages 110-120.
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Anna-Lena Forst, Markus Reichold, Robert Kleta & Richard Warth. (2021) Distinct Mitochondrial Pathologies Caused by Mutations of the Proximal Tubular Enzymes EHHADH and GATM. Frontiers in Physiology 12.
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Ekaterina Yonova-Doing, Claudia Calabrese, Aurora Gomez-Duran, Katherine Schon, Wei Wei, Savita Karthikeyan, Patrick F. Chinnery & Joanna M. M. Howson. (2021) An atlas of mitochondrial DNA genotype–phenotype associations in the UK Biobank. Nature Genetics 53:7, pages 982-993.
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Chengyuan Tang, Juan Cai, Xiao-Ming Yin, Joel M. Weinberg, Manjeri A. Venkatachalam & Zheng Dong. (2020) Mitochondrial quality control in kidney injury and repair. Nature Reviews Nephrology 17:5, pages 299-318.
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Mehmet M. Altintas, Salvatore DiBartolo, Lana Tadros, Beata Samelko & Haimanot Wasse. (2021) Metabolic Changes in Peripheral Blood Mononuclear Cells Isolated From Patients With End Stage Renal Disease. Frontiers in Endocrinology 12.
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Mohaddeseh Behjati, Mohammad Reza Sabri, Masood Etemadi Far & Majid Nejati. (2020) Cardiac complications in inherited mitochondrial diseases. Heart Failure Reviews 26:2, pages 391-403.
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Mathieu Lemaire. (2021) Novel Fanconi renotubular syndromes provide insights in proximal tubule pathophysiology. American Journal of Physiology-Renal Physiology 320:2, pages F145-F160.
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Fatih Ozaltin, Leonardo Salviati & Shamima Rahman. 2020. Pediatric Nephrology. Pediatric Nephrology 1 13 .
Valentina Emmanuele, Catarina M. Quinzii & Michio Hirano. 2021. Mitochondrial Diseases. Mitochondrial Diseases 273 305 .
Tayeba Roper, Mark Harber, Gareth Jones, Robert D. S. Pitceathly & Alan D. Salama. (2020) Delayed diagnoses of mitochondrial cytopathies in patients presenting with end stage kidney disease: two case reports. BMC Nephrology 21:1.
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Nehaben A. Gujarati, Jessica M. Vasquez, Daniel F. Bogenhagen & Sandeep K. Mallipattu. (2020) The complicated role of mitochondria in the podocyte. American Journal of Physiology-Renal Physiology 319:6, pages F955-F965.
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Anne M. Schijvens, Nicole C. van de Kar, Charlotte M. Bootsma-Robroeks, Elisabeth A. Cornelissen, Lambertus P. van den Heuvel & Michiel F. Schreuder. (2020) Mitochondrial Disease and the Kidney With a Special Focus on CoQ10 Deficiency. Kidney International Reports 5:12, pages 2146-2159.
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Shane A. Watson & Gavin P. McStay. (2020) Functions of Cytochrome c Oxidase Assembly Factors. International Journal of Molecular Sciences 21:19, pages 7254.
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Sandrine Ettou, Youngsook L. Jung, Tomoya Miyoshi, Dhawal Jain, Ken HiratsukaValerie SchumacherMary E. Taglienti, Ryuji Morizane, Peter J. Park & Jordan A. Kreidberg. (2020) Epigenetic transcriptional reprogramming by WT1 mediates a repair response during podocyte injury. Science Advances 6:30.
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Hugo Bakis, Aurélien Trimouille, Agathe Vermorel, Isabelle Redonnet, Cyril Goizet, Romain Boulestreau, Didier Lacombe, Christian Combe, Marie‐Laure Martin‐Négrier & Claire Rigothier. (2020) Adult onset tubulo‐interstitial nephropathy in MT‐ND5‐related phenotypes. Clinical Genetics 97:4, pages 628-633.
Crossref
Yi Shiau Ng, Kyle Thompson, Daniela Loher, Sila Hopton, Gavin Falkous, Steven A. Hardy, Andrew M. Schaefer, Sandip Shaunak, Mark E. Roberts, James B. Lilleker & Robert W. Taylor. (2020) Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency. Frontiers in Genetics 11.
Crossref
Valentina Marchesin, Albert Pérez-Martí, Gwenn Le Meur, Roman Pichler, Kelli Grand, Enriko D. Klootwijk, Anne Kesselheim, Robert Kleta, Soeren Lienkamp & Matias Simons. (2019) Molecular Basis for Autosomal-Dominant Renal Fanconi Syndrome Caused by HNF4A. Cell Reports 29:13, pages 4407-4421.e5.
Crossref
Alejandra Guillermina Miranda-Díaz, Ernesto Germán Cardona-Muñoz & Fermín Paul Pacheco-Moisés. (2019) The Role of Cardiolipin and Mitochondrial Damage in Kidney Transplant. Oxidative Medicine and Cellular Longevity 2019, pages 1-13.
Crossref
M. Bargagli, G. Primiano, A. Primiano, J. Gervasoni, A. Naticchia, S. Servidei, G. Gambaro & P. M. Ferraro. (2018) Recurrent kidney stones in a family with a mitochondrial disorder due to the m.3243A>G mutation. Urolithiasis 47:5, pages 489-492.
Crossref
Reza Heidari. (2019) The footprints of mitochondrial impairment and cellular energy crisis in the pathogenesis of xenobiotics-induced nephrotoxicity, serum electrolytes imbalance, and Fanconi’s syndrome: A comprehensive review. Toxicology 423, pages 1-31.
Crossref
Paul T. Brinkkoetter, Tillmann Bork, Sarah Salou, Wei Liang, Athanasia Mizi, Cem Özel, Sybille Koehler, H. Henning Hagmann, Christina Ising, Alexander Kuczkowski, Svenia Schnyder, Ahmed Abed, Bernhard Schermer, Thomas Benzing, Oliver Kretz, Victor G. Puelles, Simon Lagies, Manuel Schlimpert, Bernd Kammerer, Christoph Handschin, Christoph Schell & Tobias B. Huber. (2019) Anaerobic Glycolysis Maintains the Glomerular Filtration Barrier Independent of Mitochondrial Metabolism and Dynamics. Cell Reports 27:5, pages 1551-1566.e5.
Crossref
Marketa Tesarova, Alzbeta Vondrackova, Hana Stufkova, Lenka Veprekova, Viktor Stranecky, Kamila Berankova, Hana Hansikova, Martin Magner, Natalia Galoova, Tomas Honzik, Elena Vodickova, Jan Stary & Jiri Zeman. (2019) Sideroblastic anemia associated with multisystem mitochondrial disorders. Pediatric Blood & Cancer 66:4, pages e27591.
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Domenico Santoro, Gianluca Di Bella, Antonio Toscano, Olimpia Musumeci, Michele Buemi & Giorgina Piccoli. (2019) Mitochondrial Disease (MELAS Syndrome) Discovered at the Start of Pregnancy in a Patient with Advanced CKD: A Clinical and Ethical Challenge. Journal of Clinical Medicine 8:3, pages 303.
Crossref
Yu Ishimoto, Tetsuhiro Tanaka, Yoko Yoshida & Reiko Inagi. (2018) Physiological and pathophysiological role of reactive oxygen species and reactive nitrogen species in the kidney. Clinical and Experimental Pharmacology and Physiology 45:11, pages 1097-1105.
Crossref
Josephine M. Forbes & David R. Thorburn. (2018) Mitochondrial dysfunction in diabetic kidney disease. Nature Reviews Nephrology 14:5, pages 291-312.
Crossref
Ryan L. Davis, Christina Liang & Carolyn M. Sue. 2018. Neurogenetics, Part I. Neurogenetics, Part I 125 141 .
Philip Kam-Tao Li, Jack Kit-Chung Ng, Yuk Lun Cheng, Tze Hoi Kwan, Chi Bon Leung, Miu Fong Lau, Koon Shing Choi, Samuel Ka-Shun Fung, Yiu Wing Ho, Siu Ka Mak, Sydney Chi-Wai Tang, Kin Shing Wong, David Yong & Sing Leung Lui. (2017) Relatives in silent kidney disease screening (RISKS) study: A Chinese cohort study. Nephrology 22, pages 35-42.
Crossref
Hazel H. Szeto. (2017) Pharmacologic Approaches to Improve Mitochondrial Function in AKI and CKD. Journal of the American Society of Nephrology 28:10, pages 2856-2865.
Crossref
Eujin Park, Hee Gyung Kang, Young Hun Choi, Kyoung Bun Lee, Kyung Chul Moon, Hyeon Joo Jeong, Michio Nagata & Hae Il Cheong. (2017) Focal segmental glomerulosclerosis and medullary nephrocalcinosis in children with ADCK4 mutations. Pediatric Nephrology 32:9, pages 1547-1554.
Crossref
Szu-Yuan Li, Jihwan Park, Chengxiang Qiu, Seung Hyeok Han, Matthew B. Palmer, Zoltan Arany & Katalin Susztak. (2017) Increasing the level of peroxisome proliferator-activated receptor γ coactivator-1α in podocytes results in collapsing glomerulopathy. JCI Insight 2:14.
Crossref
Eujin Park, Yo Han Ahn, Hee Gyung Kang, Kee Hwan Yoo, Nam Hee Won, Kyoung Bun Lee, Kyung Chul Moon, Moon-Woo Seong, Tae rin Gwon, Sung Sup Park & Hae Il Cheong. (2017) COQ6 Mutations in Children With Steroid-Resistant Focal Segmental Glomerulosclerosis and Sensorineural Hearing Loss. American Journal of Kidney Diseases 70:1, pages 139-144.
Crossref
Alexander Kuczkowski & Paul T. Brinkkoetter. (2017) Metabolism and homeostasis in the kidney: metabolic regulation through insulin signaling in the kidney. Cell and Tissue Research 369:1, pages 199-210.
Crossref
Francesco Emma & Leonardo Salviati. (2017) Mitochondrial cytopathies and the kidney. Néphrologie & Thérapeutique 13, pages S23-S28.
Crossref
Thomas M. Connor, Simon Hoer, Andrew Mallett, Daniel P. Gale, Aurora Gomez-Duran, Viktor Posse, Robin Antrobus, Pablo Moreno, Marco Sciacovelli, Christian Frezza, Jennifer Duff, Neil S. Sheerin, John A. Sayer, Margaret Ashcroft, Michael S. Wiesener, Gavin Hudson, Claes M. Gustafsson, Patrick F. Chinnery & Patrick H. Maxwell. (2017) Mutations in mitochondrial DNA causing tubulointerstitial kidney disease. PLOS Genetics 13:3, pages e1006620.
Crossref
Christina Ising & Paul T. Brinkkoetter. 2017. Mitochondrial Dynamics in Cardiovascular Medicine. Mitochondrial Dynamics in Cardiovascular Medicine 563 575 .
Pu Duann & Pei-Hui Lin. 2017. Mitochondrial Dynamics in Cardiovascular Medicine. Mitochondrial Dynamics in Cardiovascular Medicine 529 551 .
Paula Pérez-Albert, Carmen de Lucas Collantes, Miguel Ángel Fernández-García, Teresa de Rojas, Cristina Aparicio López & Luis Gutiérrez-Solana. 2018. JIMD Reports, Volume 42. JIMD Reports, Volume 42 61 70 .
Asheeta Gupta, Isabel Colmenero, Nicola K. Ragge, Emma L. Blakely, Langping He, Robert McFarland, Robert W. Taylor, Julie Vogt & David V. Milford. (2016) Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report. BMC Research Notes 9:1.
Crossref
Yu Ishimoto & Reiko Inagi. (2016) Mitochondria: a therapeutic target in acute kidney injury. Nephrology Dialysis Transplantation 31:7, pages 1062-1069.
Crossref
Francesco Emma, Giovanni Montini, Samir M. Parikh & Leonardo Salviati. (2016) Mitochondrial dysfunction in inherited renal disease and acute kidney injury. Nature Reviews Nephrology 12:5, pages 267-280.
Crossref
Salvador Villalpando Carrión, Mariana Xail Espriu Ramírez, Bertha Lilia Romero Baizabal & Stanislaw Sadowinski-Pine. (2016) Lactante con ictericia progresiva, cirrosis y tubulopatía proximal. Boletín Médico del Hospital Infantil de México 73:2, pages 129-138.
Crossref
Salvador Villalpando Carrión, Mariana Xail Espriu Ramírez, Bertha Lilia Romero Baizabal & Stanislaw Sadowinski-Pine. (2016) Infant with progressive jaundice, cirrhosis and proximal tubulopathy. Boletín Médico Del Hospital Infantil de México (English Edition) 73:2, pages 129-138.
Crossref
Catarina M. Quinzii & Mariana Loos. 2016. Mitochondrial Case Studies. Mitochondrial Case Studies 299 304 .
Francesco Emma, William G. van’t Hoff & Carlo Dionisi Vici. 2016. Pediatric Nephrology. Pediatric Nephrology 1569 1607 .
C. Bursle, A. Narendra, R. Chuk, J. Cardinal, R. Justo, B. Lewis & D. Coman. 2017. JIMD Reports, Volume 34. JIMD Reports, Volume 34 105 109 .
Johannes A. Mayr, Tobias B. Haack, Peter Freisinger, Daniela Karall, Christine Makowski, Johannes Koch, René G. Feichtinger, Franz A. Zimmermann, Boris Rolinski, Uwe Ahting, Thomas Meitinger, Holger Prokisch & Wolfgang Sperl. (2015) Spectrum of combined respiratory chain defects. Journal of Inherited Metabolic Disease 38:4, pages 629-640.
Crossref
Jeffrey B. Kopp. (2015) Loss of Krüppel-like factor 6 cripples podocyte mitochondrial function. Journal of Clinical Investigation 125:3, pages 968-971.
Crossref
Francesco Emma, William G. van’t Hoff & Carlo Dionisi Vici. 2014. Pediatric Nephrology. Pediatric Nephrology 1 43 .