Hum Mol Genet
Jump to navigation
Jump to search
| Journal title and website | Human Molecular Genetics |
|---|
Publications
| Reference | Published | View | |
|---|---|---|---|
| Schober 2022 Hum Mol Genet | Schober FA, Tang JX, Sergeant K, Moedas MF, Zierz CM, Moore D, Smith C, Lewis D, Guha N, Hopton S, Falkous G, Lam A, Pyle A, Poulton J, Gorman GS, Taylor RW, Freyer C, Wredenberg A (2022) Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease. https://doi.org/10.1093/hmg/ddac002 | 2022 | PMID: 35024855 Open Access |
| Cornelissen 2020 Hum Mol Genet | Cornelissen T, Spinazzi M, Martin S, Imberechts D, Vangheluwe P, Bird M, De Strooper B, Vandenberghe W (2020) CHCHD2 harboring the Parkinson's disease-linked T61I mutation precipitates inside mitochondria and induces precipitation of wild-type CHCHD2. Hum Mol Genet 29:1096-106. | 2020 | PMID: 32068847 Open Access |
| Burstein 2018 Hum Mol Genet | Burstein SR, Valsecchi F, Kawamata H, Bourens M, Zeng R, Zuberi A, Milner TA, Cloonan SM, Lutz C, Barrientos A, Manfredi G (2018) In vitro and in vivo studies of the ALS-FTLD protein CHCHD10 reveal novel mitochondrial topology and protein interactions. Hum Mol Genet 27:160-77. | 2018 | PMID: 29112723 Open Access |
| Corrochano 2018 Hum Mol Genet | Corrochano S, Blanco G, Williams D, Wettstein J, Simon M, Kumar S, Moir L, Agnew T, Stewart M, Landman A, Kotiadis VN, Duchen MR, Wackerhage H, Rubinsztein DC, Brown SDM, Acevedo-Arozena A (2018) A genetic modifier suggests that endurance exercise exacerbates Huntington's disease. Hum Mol Genet 27:1723-31. | 2018 | PMID: 29509900 |
| Chen 2018 Hum Mol Genet | Chen A, Tiosano D, Guran T, Baris HN, Bayram Y, Mory A, Shapiro-Kulnane L, Hodges CA, Coban Akdemir Z, Turan S, Jhangiani SN, van den Akker F, Hoppel CL, Salz HK, Lupski JR, Buchner DA (2018) Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. Hum Mol Genet 27:1913-26. | 2018 | PMID: 29566152 |
| Barca 2018 Hum Mol Genet | Barca E, Ganetzky RD, Potluri P, Juanola-Falgarona M, Gai X, Li D, Jalas C, Hirsch Y, Emmanuele V, Tadesse S, Ziosi M, Akman HO, Chung WK, Tanji K, McCormick E, Place E, Consugar M, Pierce EA, Hakonarson H, Wallace DC, Hirano M, Falk MJ (2018) USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis. Hum Mol Genet 27:3305-12. | 2018 | PMID: 29917077 Open Access |
| Weisz 2018 Hum Mol Genet | Weisz ED, Towheed A, Monyak RE, Toth MS, Wallace DC, Jongens TA (2018) Loss of Drosophila FMRP leads to alterations in energy metabolism and mitochondrial function. Hum Mol Genet 27:95-106. | 2018 | PMID: 29106525 |
| Rubio-Villena 2018 Hum Mol Genet | Rubio-Villena C, Viana R, Bonet J, Garcia-Gimeno MA, Casado M, Heredia M, Sanz P (2018) Astrocytes: new players in progressive myoclonus epilepsy of Lafora type. Hum Mol Genet 27:1290-1300. | 2018 | PMID: 29408991 |
| Friederich 2017 Hum Mol Genet | Friederich MW, Erdogan AJ, Coughlin CR 2nd, Elos MT, Jiang H, O'Rourke CP, Lovell MA, Wartchow E, Gowan K, Chatfield KC, Chick WS, Spector EB, Van Hove JLK, Riemer J (2017) Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly. Hum Mol Genet 26:702-16. | 2017 | PMID: 28040730 Open Access |
| Hartmannova 2016 Hum Mol Genet | Hartmannová H, Piherová L, Tauchmannová K, Kidd K, Acott PD, Crocker JF, Oussedik Y, Mallet M, Hodaňová K, Stránecký V, Přistoupilová A, Barešová V, Jedličková I, Živná M, Sovová J, Hůlková H, Robins V, Vrbacký M, Pecina P, Kaplanová V, Houštěk J, Mráček T, Thibeault Y, Bleyer AJ, Kmoch S (2016) Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6. Hum Mol Genet 25:4062-79. | 2016 | PMID: 27466185 |
| Kemppainen 2014 Hum Mol Genet | Kemppainen KK, Rinne J, Sriram A, Lakanmaa M, Zeb A, Tuomela T, Popplestone A, Singh S, Sanz A, Rustin P, Jacobs HT (2014) Expression of alternative oxidase in Drosophila ameliorates diverse phenotypes due to cytochrome oxidase deficiency. Hum Mol Genet 23:2078-93. | 2014 | PMID: 24293544 |
| Mourier 2014 Hum Mol Genet | Mourier A, Ruzzenente B, Brandt T, Kühlbrandt W, Larsson NG (2014) Loss of LRPPRC causes ATP synthase deficiency. Hum Mol Genet 23:2580-92. | 2014 | PMID:24399447 Open Access |
| Gispert 2013 Hum Mol Genet | Gispert S, Parganlija D, Klinkenberg M, Dröse S, Wittig I, Mittelbronn M, Grzmil P, Koob S, Hamann A, Walter M, Büchel F, Adler T, Hrabé de Angelis M, Busch DH, Zell A, Reichert AS, Brandt U, Osiewacz HD, Jendrach M, Auburger G (2013) Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors. Hum Mol Genet 22:4871-87. | 2013 | PMID:23851121 |
| Percival 2013 Hum Mol Genet | Percival JM, Siegel MP, Knowels G, Marcinek DJ (2013) Defects in mitochondrial localization and ATP synthesis in the mdx mouse model of Duchenne muscular dystrophy are not alleviated by PDE5 inhibition. Hum Mol Genet 22:153-67. | 2013 | PMID: 23049075 Open Access |
| Piccoli 2013 Hum Mol Genet | Piccoli C, Izzo A, Scrima R, Bonfiglio F, Manco R, Negri R, Quarato G, Cela O, Ripoli M, Prisco M, Gentile F, Calì G, Pinton P, Conti A, Nitsch L, Capitanio N (2013) Chronic pro-oxidative state and mitochondrial dysfunctions are more pronounced in fibroblasts from Down syndrome foeti with congenital heart defects. Hum Mol Genet 22:1218-32. | 2013 | PMID: 23257287 Open Access |
| Lopez-Erauskin 2013 Hum Mol Genet | López-Erauskin J, Galino J, Ruiz M, Cuezva JM, Fabregat I, Cacabelos D, Boada J, Martínez J, Ferrer I, Pamplona R, Villarroya F, Portero-Otín M, Fourcade S, Pujol A (2013) Impaired mitochondrial oxidative phosphorylation in the peroxisomal disease X-linked adrenoleukodystrophy. Hum Mol Genet 22:3296-305. | 2013 | PMID: 23604518 Open Access |
| Wang 2013 Hum Mol Genet | Wang Y, Hekimi S (2013) Mitochondrial respiration without ubiquinone biosynthesis. Hum Mol Genet 22:4768-83. | 2013 | PMID: 23847050 Open Access |
| Garcia-Corzo 2013 Hum Mol Genet | García-Corzo L, Luna-Sánchez M, Doerrier C, García JA, Guarás A, Acín-Pérez R, Bullejos-Peregrín J, López A, Escames G, Enríquez JA, Acuña-Castroviejo D, López LC (2013) Dysfunctional Coq9 protein causes predominant encephalomyopathy associated with CoQ deficiency. Hum Mol Genet 22:1233-48. | 2013 | PMID: 23255162 Open Access |
| Gomez-Duran 2010 Hum Mol Genet | Gómez-Durán A, Pacheu-Grau D, López-Gallardo E, Díez-Sánchez C, Montoya J, López-Pérez MJ, Ruiz-Pesini E (2010) Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups. Hum Mol Genet 19:3343-53. | 2010 | PMID: 20566709 Open Access |
| Hein 2008 Hum Mol Genet | Hein S, Schönfeld P, Kahlert S, Reiser G (2008) Toxic effects of X-linked adrenoleukodystrophy-associated, very long chain fatty acids on glial cells and neurons from rat hippocampus in culture. Hum Mol Genet 17:1750-61. | 2008 | PMID: 18344355 Open Access |
| Eisenberg 2008 Hum Mol Genet | Eisenberg I, Novershtern N, Itzhaki Z, Becker-Cohen M, Sadeh M, Willems PH, Friedman N, Koopman WJ, Mitrani-Rosenbaum S (2008) Mitochondrial processes are impaired in hereditary inclusion body myopathy. Hum Mol Genet 17:3663-74. | 2008 | PMID: 18723858 |
| Oezen 2005 Hum Mol Genet | Oezen I, Rossmanith W, Forss-Petter S, Kemp S, Voigtlander T, Moser-Thier K, Wanders RJA, Bittner RE, Berger J (2005) Accumulation of very long-chain fatty acids does not affect mitochondrial function in adrenoleukodystrophy protein deficiency. Hum Mol Genet 14:1127-37. | 2005 | PMID: 15772093 Open Access |
| Varlamov 2002 Hum Mol Genet | Varlamov DA, Kudin AP, Vielhaber S, Schroder R, Sassen R, Becker A, Kunz D, Haug K, Rebstock J, Heils A, Elger CE, Kunz WS (2002) Metabolic consequences of a novel missense mutation of the mtDNA CO I gene. Hum Mol Genet 11:1797-805. | 2002 | PMID: 12140182 Open Access |