{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T11:03:23Z","timestamp":1785841403218,"version":"3.56.0"},"reference-count":22,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,1,9]],"date-time":"2020-01-09T00:00:00Z","timestamp":1578528000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Kidney is a highly adenosine triphosphate dependent organ in human body. Healthy and functional mitochondria are essential for normal kidney function. Clinical and genetic variability are the hallmarks of mitochondrial disorders. We report here the involvement of two\n                    <jats:italic>MT\u2010ND5<\/jats:italic>\n                    pathogenic variants encoding for ND5 subunit of respiratory chain complex I, the m.13513G&gt;A and the m.13514A&gt;G, in adult\u2010onset kidney disease in three unrelated patients. The first patient had myopathy encephalopathy lactic acidosis and stroke syndrome, left ventricular hypertrophy with Wolff\u2010Parkinson\u2010White syndrome and tubulo\u2010interstitial kidney disease. The second presented Leber hereditary optic neuropathy associated with tubulo\u2010interstitial kidney disease. The third presented with an isolated chronic tubulo\u2010interstitial kidney disease. These mutations have never been associated with adulthood mitochondrial nephropathy. These case reports highlight the importance to consider mitochondrial dysfunction in tubulo\u2010interstitial kidney disease.\n                  <\/jats:p>","DOI":"10.1111\/cge.13670","type":"journal-article","created":{"date-parts":[[2019,11,12]],"date-time":"2019-11-12T06:53:16Z","timestamp":1573541596000},"page":"628-633","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Adult onset tubulo\u2010interstitial nephropathy in MT\u2010ND5\u2010related phenotypes"],"prefix":"10.1111","volume":"97","author":[{"given":"Hugo","family":"Bakis","sequence":"first","affiliation":[{"name":"Service de N\u00e9phrologie Transplantation Dialyse et Aph\u00e9r\u00e8ses Centre Hospitalier Universitaire de Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aur\u00e9lien","family":"Trimouille","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique m\u00e9dicale Centre 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