Publications by authors named "Ian Holt"

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Aspartame decreases fat deposits in mice at a cost of mild cardiac hypertrophy and reduced cognitive performance.
Irati Aiestaran-Zelaia, María Jesús Sánchez-Guisado, Marta Beraza, Libe López-Arandia, Sandra Plaza-García, Ian J Holt

Biomed Pharmacother· December 2025

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Characterising PMP22-Proximal Partners in a Schwann Cell Model of Charcot-Marie-Tooth Disease Type1A.
Ian Holt, Nicholas Emery, Monte A Gates, Sharon J Brown, Sally L Shirran

Biology (Basel)· November 2025

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Dysregulated FOXO1 activity drives skeletal muscle intrinsic dysfunction in amyotrophic lateral sclerosis.
Mónica Zufiría, Oihane Pikatza-Menoio, Maddi Garciandia-Arcelus, Xabier Bengoetxea, Andrés Jiménez, Ian James Holt

Acta Neuropathol· September 2024

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Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation.
Mikel Muñoz-Oreja, Abigail Sandoval, Ove Bruland, Diego Perez-Rodriguez, Uxoa Fernandez-Pelayo, Ian J Holt

Brain· May 2024

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Proteomic characterization of human LMNA-related congenital muscular dystrophy muscle cells.
Emily C Storey, Ian Holt, Sharon Brown, Silvia Synowsky, Sally Shirran

Neuromuscul Disord· May 2024

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Mitochondrial DNA competition: starving out the mutant genome.
Antonella Spinazzola, Diego Perez-Rodriguez, Jan Ježek, Ian J Holt

Trends Pharmacol Sci· March 2024

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Metabolic Malfunction Mars Muscle Mitochondria.
Guido Primiano, Ian Holt

Neurol Genet· February 2024

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The Proteome Signatures of Fibroblasts from Patients with Severe, Intermediate and Mild Spinal Muscular Atrophy Show Limited Overlap.
Sharon J Brown, Rachel A Kline, Silvia A Synowsky, Sally L Shirran, Ian Holt

Cells· August 2022

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R-Loops and Mitochondrial DNA Metabolism.
Ian J Holt

Methods Mol Biol· June 2022

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2 deoxy-D-glucose augments the mitochondrial respiratory chain in heart.
Irati Aiestaran-Zelaia, María Jesús Sánchez-Guisado, Marina Villar-Fernandez, Mikel Azkargorta, Lucia Fadon-Padilla, Ian J Holt

Sci Rep· April 2022

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Defects of Nutrient Signaling and Autophagy in Neurodegeneration.
Jon Ondaro, Haizea Hernandez-Eguiazu, Maddi Garciandia-Arcelus, Raúl Loera-Valencia, Laura Rodriguez-Gómez, Ian James Holt

Front Cell Dev Biol· March 2022

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2-Deoxy-D-glucose couples mitochondrial DNA replication with mitochondrial fitness and promotes the selection of wild-type over mutant mitochondrial DNA.
Boris Pantic, Daniel Ives, Mara Mennuni, Diego Perez-Rodriguez, Uxoa Fernandez-Pelayo, Ian J Holt

Nat Commun· December 2021

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Role of Bradykinin Type 2 Receptors in Human Sweat Secretion: Translational Evidence Does Not Support a Functional Relationship.
Thad E Wilson, Seetharam Narra, Kristen Metzler-Wilson, Artur Schneider, Kelsey A Bullens, Ian S Holt

Skin Pharmacol Physiol· November 2021

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Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.
Alejandro Horga, Andreea Manole, Alice L Mitchell, Enrico Bugiardini, Iain P Hargreaves, Ian J Holt

Mol Biol Rep· March 2021

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An interaction of heart disease-associated proteins POPDC1/2 with XIRP1 in transverse tubules and intercalated discs.
Ian Holt, Heidi R Fuller, Roland F R Schindler, Sally L Shirran, Thomas Brand

BMC Mol Cell Biol· December 2020

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Muscle cell differentiation and development pathway defects in Emery-Dreifuss muscular dystrophy.
Emily C Storey, Ian Holt, Glenn E Morris, Heidi R Fuller

Neuromuscul Disord· June 2020

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Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.
Adam C Gunning, Klaudia Strucinska, Mikel Muñoz Oreja, Andrew Parrish, Richard Caswell, Ian J Holt

Am J Hum Genet· February 2020

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The Jekyll and Hyde character of RNase H1 and its multiple roles in mitochondrial DNA metabolism.
Ian J Holt

DNA Repair (Amst)· December 2019

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Reply to: "Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion".
Beatriz De la Casa-Fages, Gorka Fernández-Eulate, Josep Gamez, Raúl Barahona-Hernando, Germán Morís, Ian Holt

Mov Disord· December 2019

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Lamin A/C dysregulation contributes to cardiac pathology in a mouse model of severe spinal muscular atrophy.
Darija Šoltić, Hannah K Shorrock, Hazel Allardyce, Emma L Wilson, Ian Holt

Hum Mol Genet· November 2019

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Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism.
Beatriz De la Casa-Fages, Gorka Fernández-Eulate, Josep Gamez, Raúl Barahona-Hernando, Germán Morís, Ian Holt

Mov Disord· October 2019

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Nesprin-1-alpha2 associates with kinesin at myotube outer nuclear membranes, but is restricted to neuromuscular junction nuclei in adult muscle.
Ian Holt, Heidi R Fuller, Le Thanh Lam, Caroline A Sewry, Sally L Shirran

Sci Rep· October 2019

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Adolescent Intermittent Ethanol Increases the Sensitivity to the Reinforcing Properties of Ethanol and the Expression of Select Cholinergic and Dopaminergic Genes within the Posterior Ventral Tegmental Area.
Sheketha R Hauser, Christopher P Knight, William A Truitt, Robert Aaron Waeiss, Ian S Holt

Alcohol Clin Exp Res· September 2019

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MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy.
Enrico Bugiardini, Alice L Mitchell, Ilaria Dalla Rosa, Hue-Tran Horning-Do, Alan M Pitmann, Janice L Holton, Ian J Holt

Hum Mol Genet· August 2019

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The mitochondrial R-loop.
Ian J Holt

Nucleic Acids Res· June 2019

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