Mitochondrial respiratory complex I defects in Fanconi anemia
Fanconi anemia (FA) is a rare, complex disorder that manifests in childhood. Children with FA suffer bone marrow failure, leukemias, or solid tumors. FA-associated mutations are found in 15 proteins that are involved in DNA repair. Some of these proteins have extranuclear activities involving redox...
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| Veröffentlicht in: | Trends in molecular medicine 2013-09, Vol.19 (9), p.513-514 |
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| container_title | Trends in molecular medicine |
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| creator | Cappelli, Enrico Ravera, Silvia Vaccaro, Daniele Cuccarolo, Paola Bartolucci, Martina Panfoli, Isabella Dufour, Carlo Degan, Paolo |
| description | Fanconi anemia (FA) is a rare, complex disorder that manifests in childhood. Children with FA suffer bone marrow failure, leukemias, or solid tumors. FA-associated mutations are found in 15 proteins that are involved in DNA repair. Some of these proteins have extranuclear activities involving redox balance, apoptosis, and energy metabolism; and recent data demonstrate respiratory impairment in FA cells, suggesting that altered mitochondrial function is a factor in this disease. |
| doi_str_mv | 10.1016/j.molmed.2013.07.008 |
| format | Article |
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Children with FA suffer bone marrow failure, leukemias, or solid tumors. FA-associated mutations are found in 15 proteins that are involved in DNA repair. Some of these proteins have extranuclear activities involving redox balance, apoptosis, and energy metabolism; and recent data demonstrate respiratory impairment in FA cells, suggesting that altered mitochondrial function is a factor in this disease.</description><identifier>ISSN: 1471-4914</identifier><identifier>EISSN: 1471-499X</identifier><identifier>DOI: 10.1016/j.molmed.2013.07.008</identifier><identifier>PMID: 23932594</identifier><language>eng</language><publisher>England: Elsevier Ltd</publisher><subject>Anemia, Aplastic ; apoptosis ; Apoptosis - genetics ; Bone Marrow Diseases ; carcinogenesis ; Carcinogenesis - genetics ; Child ; DNA Repair - genetics ; Electron Transport Complex I - genetics ; Electron Transport Complex I - metabolism ; Fanconi anemia ; Fanconi Anemia - complications ; Fanconi Anemia - genetics ; Fanconi Anemia - pathology ; Hemoglobinuria, Paroxysmal - complications ; Hemoglobinuria, Paroxysmal - genetics ; Hemoglobinuria, Paroxysmal - pathology ; Humans ; mitochondria ; Mitochondria - genetics ; Mitochondria - pathology ; Neoplasms - complications ; Neoplasms - genetics ; Neoplasms - pathology ; Pathology ; redox balance ; respiration</subject><ispartof>Trends in molecular medicine, 2013-09, Vol.19 (9), p.513-514</ispartof><rights>Elsevier Ltd</rights><rights>2013 Elsevier Ltd</rights><rights>Copyright © 2013 Elsevier Ltd. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c483t-82c546d7307e8a00db754321bc0260b9eec42b610b72c9abdbb333d5213557a33</citedby><cites>FETCH-LOGICAL-c483t-82c546d7307e8a00db754321bc0260b9eec42b610b72c9abdbb333d5213557a33</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S1471491413001299$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65534</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23932594$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Cappelli, Enrico</creatorcontrib><creatorcontrib>Ravera, Silvia</creatorcontrib><creatorcontrib>Vaccaro, Daniele</creatorcontrib><creatorcontrib>Cuccarolo, Paola</creatorcontrib><creatorcontrib>Bartolucci, Martina</creatorcontrib><creatorcontrib>Panfoli, Isabella</creatorcontrib><creatorcontrib>Dufour, Carlo</creatorcontrib><creatorcontrib>Degan, Paolo</creatorcontrib><title>Mitochondrial respiratory complex I defects in Fanconi anemia</title><title>Trends in molecular medicine</title><addtitle>Trends Mol Med</addtitle><description>Fanconi anemia (FA) is a rare, complex disorder that manifests in childhood. Children with FA suffer bone marrow failure, leukemias, or solid tumors. FA-associated mutations are found in 15 proteins that are involved in DNA repair. Some of these proteins have extranuclear activities involving redox balance, apoptosis, and energy metabolism; and recent data demonstrate respiratory impairment in FA cells, suggesting that altered mitochondrial function is a factor in this disease.</description><subject>Anemia, Aplastic</subject><subject>apoptosis</subject><subject>Apoptosis - genetics</subject><subject>Bone Marrow Diseases</subject><subject>carcinogenesis</subject><subject>Carcinogenesis - genetics</subject><subject>Child</subject><subject>DNA Repair - genetics</subject><subject>Electron Transport Complex I - genetics</subject><subject>Electron Transport Complex I - metabolism</subject><subject>Fanconi anemia</subject><subject>Fanconi Anemia - complications</subject><subject>Fanconi Anemia - genetics</subject><subject>Fanconi Anemia - pathology</subject><subject>Hemoglobinuria, Paroxysmal - complications</subject><subject>Hemoglobinuria, Paroxysmal - genetics</subject><subject>Hemoglobinuria, Paroxysmal - pathology</subject><subject>Humans</subject><subject>mitochondria</subject><subject>Mitochondria - genetics</subject><subject>Mitochondria - pathology</subject><subject>Neoplasms - complications</subject><subject>Neoplasms - genetics</subject><subject>Neoplasms - pathology</subject><subject>Pathology</subject><subject>redox balance</subject><subject>respiration</subject><issn>1471-4914</issn><issn>1471-499X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkU1v1DAQhi1URD_gHyCUYy8bZmxnHR-oVFWUViriAEjcLH_MCi9JvNhZxP57HG3LgQunGWne-Xpexl4jtAi4frttxzSMFFoOKFpQLUD_jJ2hVLiSWn87-ZujPGXnpWwBsFOqf8FOudCCd1qesXcf45z89zSFHO3QZCq7mO2c8qHxadwN9Lu5bwJtyM-liVNzayefptjYicZoX7LnGzsUevUYL9jX2_dfbu5WD58-3N9cP6y87MW86rnv5DooAYp6CxCc6qTg6DzwNThN5CV3awSnuNfWBeeEEKHjKLpOWSEu2OVx7i6nn3sqsxlj8TQM9Yy0LwalQK4VSl6l8ij1OZWSaWN2OY42HwyCWcCZrTmCMws4A8pUcLXtzeOGvVtqT01PpKrg6iig-uevSNkUH2nyFGKucExI8X8b_h3ghzhFb4cfdKCyTfs8VYYGTeEGzOfFvMU7FNU3rrX4AyMnlJE</recordid><startdate>20130901</startdate><enddate>20130901</enddate><creator>Cappelli, Enrico</creator><creator>Ravera, Silvia</creator><creator>Vaccaro, Daniele</creator><creator>Cuccarolo, Paola</creator><creator>Bartolucci, Martina</creator><creator>Panfoli, Isabella</creator><creator>Dufour, Carlo</creator><creator>Degan, Paolo</creator><general>Elsevier Ltd</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20130901</creationdate><title>Mitochondrial respiratory complex I defects in Fanconi anemia</title><author>Cappelli, Enrico ; 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| subjects | Anemia, Aplastic apoptosis Apoptosis - genetics Bone Marrow Diseases carcinogenesis Carcinogenesis - genetics Child DNA Repair - genetics Electron Transport Complex I - genetics Electron Transport Complex I - metabolism Fanconi anemia Fanconi Anemia - complications Fanconi Anemia - genetics Fanconi Anemia - pathology Hemoglobinuria, Paroxysmal - complications Hemoglobinuria, Paroxysmal - genetics Hemoglobinuria, Paroxysmal - pathology Humans mitochondria Mitochondria - genetics Mitochondria - pathology Neoplasms - complications Neoplasms - genetics Neoplasms - pathology Pathology redox balance respiration |
| title | Mitochondrial respiratory complex I defects in Fanconi anemia |
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