Hum Mol Genet

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Journals in Bioblast
Journal title and website Human Molecular Genetics

Publications

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Cornelissen 2020 Hum Mol GenetPMID: 32068847 Open AccessCornelissen 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
Weisz 2018 Hum Mol GenetPMID: 29106525Weisz 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
Rubio-Villena 2018 Hum Mol GenetPMID: 29408991Rubio-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
Burstein 2018 Hum Mol GenetPMID: 29112723 Open AccessBurstein 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
Corrochano 2018 Hum Mol GenetPMID: 29509900Corrochano 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
Chen 2018 Hum Mol GenetPMID: 29566152Chen 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
Barca 2018 Hum Mol GenetPMID: 29917077 Open AccessBarca 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
Friederich 2017 Hum Mol GenetPMID: 28040730 Open AccessFriederich 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
Hartmannova 2016 Hum Mol GenetPMID: 27466185Hartmannová 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
Kemppainen 2014 Hum Mol GenetPMID: 24293544Kemppainen 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
Mourier 2014 Hum Mol GenetPMID:24399447 Open AccessMourier A, Ruzzenente B, Brandt T, Kühlbrandt W, Larsson NG (2014) Loss of LRPPRC causes ATP synthase deficiency. Hum Mol Genet 23:2580-92.2014
Wang 2013 Hum Mol GenetPMID: 23847050 Open AccessWang Y, Hekimi S (2013) Mitochondrial respiration without ubiquinone biosynthesis. Hum Mol Genet 22:4768-83.2013
Garcia-Corzo 2013 Hum Mol GenetPMID: 23255162 Open AccessGarcía-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
Gispert 2013 Hum Mol GenetPMID:23851121
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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
Percival 2013 Hum Mol GenetPMID: 23049075 Open AccessPercival 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
Piccoli 2013 Hum Mol GenetPMID: 23257287 Open AccessPiccoli 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
Lopez-Erauskin 2013 Hum Mol GenetPMID: 23604518 Open AccessLópez-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
Gomez-Duran 2010 Hum Mol GenetPMID: 20566709 Open AccessGómez-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
Hein 2008 Hum Mol GenetPMID: 18344355 Open AccessHein 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
Eisenberg 2008 Hum Mol GenetPMID: 18723858Eisenberg 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
Oezen 2005 Hum Mol GenetPMID: 15772093 Open AccessOezen 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
Varlamov 2002 Hum Mol GenetPMID: 12140182 Open AccessVarlamov 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