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121 results

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Page 1
Defects of Nutrient Signaling and Autophagy in Neurodegeneration.
Ondaro J, Hernandez-Eguiazu H, Garciandia-Arcelus M, Loera-Valencia R, Rodriguez-Gómez L, Jiménez-Zúñiga A, Goikolea J, Rodriguez-Rodriguez P, Ruiz-Martinez J, Moreno F, Lopez de Munain A, Holt IJ, Gil-Bea FJ, Gereñu G. Ondaro J, et al. Among authors: holt ij. Front Cell Dev Biol. 2022 Mar 28;10:836196. doi: 10.3389/fcell.2022.836196. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 35419363 Free PMC article. Review.
Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation.
Muñoz-Oreja M, Sandoval A, Bruland O, Perez-Rodriguez D, Fernandez-Pelayo U, de Arbina AL, Villar-Fernandez M, Hernández-Eguiazu H, Hernández I, Park Y, Goicoechea L, Pascual-Frías N, Garcia-Ruiz C, Fernandez-Checa J, Martí-Carrera I, Gil-Bea FJ, Hasan MT, Gegg ME, Bredrup C, Knappskog PM, Gereñu-Lopetegui G, Varhaug KN, Bindoff LA, Spinazzola A, Yoon WH, Holt IJ. Muñoz-Oreja M, et al. Among authors: holt ij. Brain. 2024 May 3;147(5):1899-1913. doi: 10.1093/brain/awae018. Brain. 2024. PMID: 38242545 Free PMC article.
Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism.
De la Casa-Fages B, Fernández-Eulate G, Gamez J, Barahona-Hernando R, Morís G, García-Barcina M, Infante J, Zulaica M, Fernández-Pelayo U, Muñoz-Oreja M, Urtasun M, Olaskoaga A, Zelaya V, Jericó I, Saez-Villaverde R, Catalina I, Sola E, Martínez-Sáez E, Pujol A, Ruiz M, Schlüter A, Spinazzola A, Muñoz-Blanco JL, Grandas F, Holt I, Álvarez V, López de Munaín A. De la Casa-Fages B, et al. Mov Disord. 2019 Oct;34(10):1547-1561. doi: 10.1002/mds.27812. Epub 2019 Aug 21. Mov Disord. 2019. PMID: 31433872
Reply to: "Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion".
De la Casa-Fages B, Fernández-Eulate G, Gamez J, Barahona-Hernando R, Morís G, García-Barcina M, Infante J, Zulaica M, Fernández-Pelayo U, Muñoz-Oreja M, Urtasun M, Olaskoaga A, Zelaya V, Jericó I, Saez-Villaverde R, Catalina I, Sola E, Martínez-Sáez E, Pujol A, Ruiz M, Schlüter A, Spinazzola A, Muñoz-Blanco JL, Grandas F, Holt I, Álvarez V, López de Munaín A. De la Casa-Fages B, et al. Mov Disord. 2019 Dec;34(12):1932-1933. doi: 10.1002/mds.27899. Mov Disord. 2019. PMID: 31845766 No abstract available.
The mitochondrial R-loop.
Holt IJ. Holt IJ. Nucleic Acids Res. 2019 Jun 20;47(11):5480-5489. doi: 10.1093/nar/gkz277. Nucleic Acids Res. 2019. PMID: 31045202 Free PMC article.
Mitochondrial myopathies: genetic defects.
Harding AE, Holt IJ, Cooper JM, Schapira AH, Sweeney M, Clark JB, Morgan-Hughes JA. Harding AE, et al. Among authors: holt ij. Biochem Soc Trans. 1990 Aug;18(4):519-22. doi: 10.1042/bst0180519. Biochem Soc Trans. 1990. PMID: 2276422 Review. No abstract available.
Mitochondrial myopathies: clinical defects.
Morgan-Hughes JA, Cooper JM, Holt IJ, Harding AE, Schapira AH, Clark JB. Morgan-Hughes JA, et al. Among authors: holt ij. Biochem Soc Trans. 1990 Aug;18(4):523-6. doi: 10.1042/bst0180523. Biochem Soc Trans. 1990. PMID: 2276423 No abstract available.
LETM1 couples mitochondrial DNA metabolism and nutrient preference.
Durigon R, Mitchell AL, Jones AW, Manole A, Mennuni M, Hirst EM, Houlden H, Maragni G, Lattante S, Doronzio PN, Dalla Rosa I, Zollino M, Holt IJ, Spinazzola A. Durigon R, et al. Among authors: holt ij. EMBO Mol Med. 2018 Sep;10(9):e8550. doi: 10.15252/emmm.201708550. EMBO Mol Med. 2018. PMID: 30012579 Free PMC article.
The molecular pathology of human respiratory chain defects.
Morgan-Hughes JA, Cooper JM, Schapira AH, Sweeny M, Holt IJ, Harding AE, Clark JB. Morgan-Hughes JA, et al. Among authors: holt ij. Rev Neurol (Paris). 1991;147(6-7):450-4. Rev Neurol (Paris). 1991. PMID: 1962049 Review.
121 results