MITOCHONDRIA, HEALTH & LONGEVITY

Metabolic Malfunction Mars Muscle Mitochondria..

Primiano G, Holt I.

NEUROLOGY-GENETICS, 10, 200126-200126 (2024)

DOI: 10.1212/NXG.0000000000200126

Dysregulated FOXO1 activity drives skeletal muscle intrinsic dysfunction in amyotrophic lateral sclerosis.

Zufiría M, Pikatza-Menoio O, Garciandia-Arcelus M, Bengoetxea X, Jiménez A, Elicegui A, Levchuk M, Arnold-García O, Ondaro J, Iruzubieta P, Rodríguez-Gómez L, Fernández-Pelayo U, Muñoz-Oreja M, Aiastui A, García-Verdugo JM, Herranz-Pérez V, Zulaica M, Poza JJ, Ruiz-Onandi R, Fernández-Torrón R, Espinal JB, Bonilla M, Lersundi A, Fernández-Eulate G, Riancho J, Vallejo-Illarramendi A, Holt IJ, Sáenz A, Malfatti E, Duguez S, Blázquez L, López de Munain A, Gerenu G, Gil-Bea F, Alonso-Martín S.

ACTA NEUROPATHOLOGICA, 148, 43-43 (2024)

DOI: 10.1007/s00401-024-02794-y

Mitochondrial DNA competition: starving out the mutant genome..

Spinazzola A, Perez-Rodriguez D, Ježek J, Holt IJ.

TRENDS IN PHARMACOLOGICAL SCIENCES, 45, 225-242 (2024)

DOI: 10.1016/j.tips.2024.01.011

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.

BRAIN, 147, 1899-1913 (2024)

DOI: 10.1093/brain/awae018

R-Loops and Mitochondrial DNA Metabolism..

Holt IJ.

Methods in molecular biology (Clifton, N.J.), 2528, 173-202 (2022)

DOI: 10.1007/978-1-0716-2477-7_12

2 deoxy-D-glucose augments the mitochondrial respiratory chain in heart.

Aiestaran-Zelaia I, Sánchez-Guisado MJ, Villar-Fernandez M, Azkargorta M, Fadon-Padilla L, Fernandez-Pelayo U, Perez-Rodriguez D, Ramos-Cabrer P, Spinazzola A, Elortza F, Ruíz-Cabello J, Holt IJ.

SCIENTIFIC REPORTS, 12, 6890-6890 (2022)

DOI: 10.1038/s41598-022-10168-1

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.

Frontiers in Cell and Developmental Biology, 10, 836196-836196 (2022)

DOI: 10.3389/fcell.2022.836196

2-Deoxy-D-glucose couples mitochondrial DNA replication with mitochondrial fitness and promotes the selection of wild-type over mutant mitochondrial DNA.

Pantic B, Ives D, Mennuni M, Perez-Rodriguez D, Fernandez-Pelayo U, Lopez de Arbina A, Muñoz-Oreja M, Villar-Fernandez M, Dang TJ, Vergani L, Johnston IG, Pitceathly RDS, McFarland R, Hanna MG, Taylor RW, Holt IJ, Spinazzola A.

NATURE COMMUNICATIONS, 12, 6997-6997 (2021)

DOI: 10.1038/s41467-021-26829-0

Disorders of replication, transcription, and translation of mitochondrial DNA.

HOLT, IAN JAMES, Janssen A, Spinazzola A, Spelbrink.

Physician's Guide to the Laboratory Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, Chapter 45, 0-0 (2021)

Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.

Horga A, Manole A, Mitchell AL, Bugiardini E, Hargreaves IP, Mowafi W, Bettencourt C, Blakely EL, He L, Polke JM, Woodward CE, Dalla Rosa I, Shah S, Pittman AM, Quinlivan R, Reilly MM, Taylor RW, Holt IJ, Hanna MG, Pitceathly RDS, Spinazzola A, Houlden H.

MOLECULAR BIOLOGY REPORTS, 48, 2093-2104 (2021)

DOI: 10.1007/s11033-021-06188-1