NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms.

by Zanette, Vanessa, Valle, Daniel do, Telles, Bruno Augusto, Robinson, Alan J, Monteiro, Vaneisse, Santos, Mara Lucia SF, Souza, Ricardo Lehtonen R, Benincá, Cristiane
Published 2022

The Causes and Consequences of Nonenzymatic Protein Acylation.

by James, Andrew M, Smith, Cassandra L, Smith, Anthony C, Robinson, Alan J, Hoogewijs, Kurt, Murphy, Michael P
Published 2018

Proximal Cysteines that Enhance Lysine N-Acetylation of Cytosolic Proteins in Mice Are Less Conserved in Longer-Living Species.

by James, Andrew M, Smith, Anthony C, Smith, Cassandra L, Robinson, Alan J, Murphy, Michael P
Published 2019

Metabolic effects of bezafibrate in mitochondrial disease.

by Steele, Hannah, Gomez-Duran, Aurora, Pyle, Angela, Hopton, Sila, Newman, Jane, Stefanetti, Renae J, Charman, Sarah J, Parikh, Jehill D, He, Langping, Viscomi, Carlo, Jakovljevic, Djordje G, Hollingsworth, Kieren G, Robinson, Alan J, Taylor, Robert W, Bottolo, Leonardo, Horvath, Rita, Chinnery, Patrick F
Published 2020

Mutations in TIMM50 compromise cell survival in OxPhos-dependent metabolic conditions.

by Reyes, Aurelio, Melchionda, Laura, Burlina, Alberto, Robinson, Alan J, Ghezzi, Daniele, Zeviani, Massimo
Published 2018

Nucleotide-binding sites can enhance N -acylation of nearby protein lysine residues

by James, Andrew M., Smith, Anthony C., Ding, Shujing, Houghton, Jack W., Robinson, Alan J., Antrobus, Robin, Fearnley, Ian M., Murphy, Michael P.
Published 2020

MitoMiner v4.0: an updated database of mitochondrial localization evidence, phenotypes and diseases.

by Smith, Anthony C, Robinson, Alan J
Published 2018

Metabolic effects of bezafibrate in mitochondrial disease.

by Steele, Hannah, Gomez-Duran, Aurora, Pyle, Angela, Hopton, Sila, Newman, Jane, Stefanetti, Renae J, Charman, Sarah J, Parikh, Jehill D, He, Langping, Viscomi, Carlo, Jakovljevic, Djordje G, Hollingsworth, Kieren G, Robinson, Alan J, Taylor, Robert W, Bottolo, Leonardo, Horvath, Rita, Chinnery, Patrick F
Published 2020

Mitochondrial ROS regulate thermogenic energy expenditure and sulfenylation of UCP1

by Chouchani, Edward T., Kazak, Lawrence, Jedrychowski, Mark P., Lu, Gina Z., Erickson, Brian K., Szpyt, John, Pierce, Kerry A., Laznik-Bogoslavski, Dina, Vetrivelan, Ramalingam, Clish, Clary B., Robinson, Alan J., Gygi, Steve P., Spiegelman, Bruce M.
Published 2017

Prognostic implications of troponin T variations in inherited cardiomyopathies using systems biology

by Shakur, Rameen, Ochoa, Juan Pablo, Robinson, Alan J., Niroula, Abhishek, Chandran, Aneesh, Rahman, Taufiq, Vihinen, Mauno, Monserrat, Lorenzo
Published 2021

Prognostic implications of troponin T variations in inherited cardiomyopathies using systems biology.

by Shakur, Rameen, Ochoa, Juan Pablo, Robinson, Alan J, Niroula, Abhishek, Chandran, Aneesh, Rahman, Taufiq, Vihinen, Mauno, Monserrat, Lorenzo
Published 2021

Prognostic implications of troponin T variations in inherited cardiomyopathies using systems biology

by Shakur, Rameen, Ochoa, Juan Pablo, Robinson, Alan J., Niroula, Abhishek, Chandran, Aneesh, Rahman, Taufiq, Vihinen, Mauno, Monserrat, Lorenzo
Published 2021

Prognostic implications of troponin T variations in inherited cardiomyopathies using systems biology

by Shakur, Rameen, Ochoa, Juan Pablo, Robinson, Alan J., Niroula, Abhishek, Chandran, Aneesh, Rahman, Taufiq, Vihinen, Mauno, Monserrat, Lorenzo
Published 2021

Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement.

by Protasoni, Margherita, Bruno, Claudio, Donati, Maria Alice, Mohamoud, Khadra, Severino, Mariasavina, Allegri, Anna, Robinson, Alan J, Reyes, Aurelio, Zeviani, Massimo, Garone, Caterina
Published 2019

Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.

by Boczonadi, Veronika, King, Martin S, Smith, Anthony C, Olahova, Monika, Bansagi, Boglarka, Roos, Andreas, Eyassu, Filmon, Borchers, Christoph, Ramesh, Venkateswaran, Lochmüller, Hanns, Polvikoski, Tuomo, Whittaker, Roger G, Pyle, Angela, Griffin, Helen, Taylor, Robert W, Chinnery, Patrick F, Robinson, Alan J, Kunji, Edmund RS, Horvath, Rita
Published 2018

A metabolic model of the mitochondrion and its use in modelling diseases of the tricarboxylic acid cycle.

by Smith, Anthony C, Robinson, Alan J
Published 2011

Nucleotide-binding sites can enhance N-acylation of nearby protein lysine residues.

by James, Andrew M, Smith, Anthony C, Ding, Shujing, Houghton, Jack W, Robinson, Alan J, Antrobus, Robin, Fearnley, Ian M, Murphy, Michael P
Published 2021

Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by POLR3A mutations.

by Zanette, Vanessa, Reyes, Aurelio, Johnson, Mark, do Valle, Daniel, Robinson, Alan J, Monteiro, Vaneisse, Telles, Bruno Augusto, L R Souza, Ricardo, S F Santos, Mara L, Benincá, Cristiane, Zeviani, Massimo
Published 2020

MitoCore: a curated constraint-based model for simulating human central metabolism

by Smith, Anthony C, Eyassu, Filmon, Mazat, Jean-Pierre, Robinson, Alan J
Published 2017

Alternative translation initiation augments the human mitochondrial proteome.

by Kazak, Lawrence, Reyes, Aurelio, Duncan, Anna L, Rorbach, Joanna, Wood, Stuart R, Brea-Calvo, Gloria, Gammage, Payam A, Robinson, Alan J, Minczuk, Michal, Holt, Ian J
Published 2017