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Dysregulated FOXO1 activity drives skeletal muscle intrinsic dysfunction in amyotrophic lateral sclerosis Zufiria, Monica; Pikatza-Menoio, Oihane; Garciandia-Arcelus, Maddi; Bengoetxea, Xabier; Jimenez, Andres; Elicegui, Amaia; Levchuk, Maria; Arnold-Garcia, Olatz; Ondaro, Jon; Iruzubieta, Pablo; Rodriguez-Gomez, Laura; Fernandez-Pelayo, Uxoa; Munoz-Oreja, Mikel; Aiastui, Ana; Garcia-Verdugo, Jose Manuel; Herranz-Perez, Vicente; Zulaica, Miren; Poza, Juan Jose; Ruiz-Onandi, Rebeca; Fernandez-Torron, Roberto; Espinal, Juan Bautista; Bonilla, Mario; Lersundi, Ana; Fernandez-Eulate, Gorka; Riancho, Javier; Vallejo-Illarramendi, Ainara; Holt, Ian James; Saenz, Amets; Malfatti, Edoardo; Duguez, Stephanie; Blazquez, Lorea; Lopez de Munain, Adolfo; Gerenu, Gorka; Gil-Bea, Francisco; Alonso-Martin, Sonia 分享 收藏
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Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation Munoz-Oreja, Mikel; Sandoval, Abigail; Bruland, Ove; Perez-Rodriguez, Diego; Fernandez-Pelayo, Uxoa; de Arbina, Amaia Lopez; Villar-Fernandez, Marina; Hernandez-Eguiazu, Haizea; Hernandez, Ixiar; Park, Yohan; Goicoechea, Leire; Pascual-Frias, Nerea; Garcia-Ruiz, Carmen; Fernandez-Checa, Jose; Marti-Carrera, Itxaso; Gil-Bea, Francisco Javier; Hasan, Mazahir T.; Gegg, Matthew E.; Bredrup, Cecilie; Knappskog, Per-Morten; Gerenu-Lopetegui, Gorka; Varhaug, Kristin N.; Bindoff, Laurence A.; Spinazzola, Antonella; Yoon, Wan Hee; Holt, Ian J. 分享 收藏
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The Proteome Signatures of Fibroblasts from Patients with Severe, Intermediate and Mild Spinal Muscular Atrophy Show Limited Overlap 来自严重，中度和轻度脊髓性肌萎缩症患者的成纤维细胞的蛋白质组特征显示出有限的重叠 Brown, Sharon J.; Kline, Rachel A.; Synowsky, Silvia A.; Shirran, Sally L.; Holt, Ian; Sillence, Kelly A.; Claus, Peter; Wirth, Brunhilde; Wishart, Thomas M.; Fuller, Heidi R. 分享 收藏
2 deoxy-D-glucose augments the mitochondrial respiratory chain in heart 2脱氧-D-葡萄糖增强心脏线粒体呼吸链 Aiestaran-Zelaia, Irati; Jesus Sanchez-Guisado, Maria; Villar-Fernandez, Marina; Azkargorta, Mikel; Fadon-Padilla, Lucia; Fernandez-Pelayo, Uxoa; Perez-Rodriguez, Diego; Ramos-Cabrer, Pedro; Spinazzola, Antonella; Elortza, Felix; Ruiz-Cabello, Jesus; Holt, Ian J. 分享 收藏
2-Deoxy-D-glucose couples mitochondrial DNA replication with mitochondrial fitness and promotes the selection of wild-type over mutant mitochondrial DNA Pantic, Boris; Ives, Daniel; Mennuni, Mara; Perez-Rodriguez, Diego; Fernandez-Pelayo, Uxoa; Lopez de Arbina, Amaia; Munoz-Oreja, Mikel; Villar-Fernandez, Marina; Dang, Thanh-mai Julie; Vergani, Lodovica; Johnston, Iain G.; Pitceathly, Robert D. S.; McFarland, Robert; Hanna, Michael G.; Taylor, Robert W.; Holt, Ian J.; Spinazzola, Antonella 分享 收藏
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism Gunning, Adam C.; Strucinska, Klaudia; Munoz Oreja, Mikel; Parrish, Andrew; Caswell, Richard; Stals, Karen L.; Durigon, Romina; Durlacher-Betzer, Karina; Cunningham, Mitchell H.; Grochowski, Christopher M.; Baptista, Julia; Tysoe, Carolyn; Baple, Emma; Lahiri, Nayana; Homfray, Tessa; Scurr, Ingrid; Armstrong, Catherine; Dean, John; Fernandez Pelayo, Uxoa; Jones, Aleck W. E.; Taylor, Robert W.; Misra, Vinod K.; Yoon, Wan Hee; Wright, Caroline F.; Lupski, James R.; Spinazzola, Antonella; Harel, Tamar; Holt, Ian J.; Ellard, Sian 分享 收藏
Reply to: Mitochondrial Parkinsonism due to SPG7/Paraplegin Variants with Secondary mtDNA Depletion De la Casa-Fages, Beatriz; Fernandez-Eulate, Gorka; Gamez, Josep; Barahona-Hernando, Raul; Moris, German; Garcia-Barcina, Maria; Infante, Jon; Zulaica, Miren; Fernandez-Pelayo, Uxoa; Munoz-Oreja, Mikel; Urtasun, Miguel; Olaskoaga, Ander; Zelaya, Victoria; Jerico, Ivonne; Saez-Villaverde, Raquel; Catalina, Irene; Sola, Emma; Martinez-Saez, Elena; Pujol, Aurora; Ruiz, Montserrat; Schluter, Agatha; Spinazzola, Antonella; Munoz-Blanco, Jose Luis; Grandas, Francisco; Holt, Ian; Alvarez, Victoria; de Munain, Adolfo Lopez 分享 收藏
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Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism 帕金森病和痉挛性截瘫7型: 扩大线粒体帕金森病的范围 De la Casa-Fages, Beatriz; Fernandez-Eulate, Gorka; Gamez, Josep; Barahona-Hernando, Raul; Moris, German; Garcia-Barcina, Maria; Infante, Jon; Zulaica, Miren; Fernandez-Pelayo, Uxoa; Munoz-Oreja, Mikel; Urtasun, Miguel; Olaskoaga, Ander; Zelaya, Victoria; Jerico, Ivonne; Saez-Villaverde, Raquel; Catalina, Irene; Sola, Emma; Martinez-Saez, Elena; Pujol, Aurora; Ruiz, Montserrat; Schluter, Agatha; Spinazzola, Antonella; Luis Munoz-Blanco, Jose; Grandas, Francisco; Holt, Ian; Alvarez, Victoria; Lopez de Munain, Adolfo 分享 收藏
Lamin A/C dysregulation contributes to cardiac pathology in a mouse model of severe spinal muscular atrophy Lamin A/C失调有助于严重脊髓性肌萎缩小鼠模型的心脏病理 Soltic, Darija; Shorrock, Hannah K.; Allardyce, Hazel; Wilson, Emma L.; Holt, Ian; Synowsky, Silvia A.; Shirran, Sally L.; Parson, Simon H.; Gillingwater, Thomas H.; Fuller, Heidi R. 分享 收藏
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MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy Bugiardini, Enrico; Mitchell, Alice L.; Dalla Rosa, Ilaria; Horning-Do, Hue-Tran; Pitmann, Alan M.; Poole, Olivia, V; Holton, Janice L.; Shah, Sachit; Woodward, Cathy; Hargreaves, Iain; Quinlivan, Rosaline; Amunts, Alexey; Wiesner, Rudolf J.; Houlden, Henry; Holt, Ian J.; Hanna, Michael G.; Pitceathly, Robert D. S.; Spinazzola, Antonella 分享 收藏
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