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Outputs (19)

Detection and Quantification of Novel C‐terminal TDP‐43 Fragments in ALS‐TDP (2021)
Journal Article
Feneberg, E., Charles, P. D., Finelli, M. J., Scott, C., Kessler, B. M., Fischer, R., Ansorge, O., Gray, E., Talbot, K., & Turner, M. R. (2021). Detection and Quantification of Novel C‐terminal TDP‐43 Fragments in ALS‐TDP. Brain Pathology, 31(4), Article e12923. https://doi.org/10.1111/bpa.12923

The pathological hallmark of amyotrophic lateral sclerosis (ALS) is the presence of cytoplasmic inclusions, containing C‐terminal fragments of the protein TDP‐43. Here, we tested the hypothesis that highly sensitive mass spectrometry with parallel re... Read More about Detection and Quantification of Novel C‐terminal TDP‐43 Fragments in ALS‐TDP.

The Ncoa7 locus regulates V-ATPase formation and function, neurodevelopment and behaviour (2020)
Journal Article
Castroflorio, E., den Hoed, J., Svistunova, D., Finelli, M. J., Cebrian-Serrano, A., Corrochano, S., Bassett, A. R., Davies, B., & Oliver, P. L. (2021). The Ncoa7 locus regulates V-ATPase formation and function, neurodevelopment and behaviour. Cellular and Molecular Life Sciences, 78(7), 3503-3524. https://doi.org/10.1007/s00018-020-03721-6

Members of the Tre2/Bub2/Cdc16 (TBC), lysin motif (LysM), domain catalytic (TLDc) protein family are associated with multiple neurodevelopmental disorders, although their exact roles in disease remain unclear. For example, nuclear receptor coactivato... Read More about The Ncoa7 locus regulates V-ATPase formation and function, neurodevelopment and behaviour.

Redox Post-translational Modifications of Protein Thiols in Brain Aging and Neurodegenerative Conditions—Focus on S-Nitrosation (2020)
Journal Article
Finelli, M. J. (2020). Redox Post-translational Modifications of Protein Thiols in Brain Aging and Neurodegenerative Conditions—Focus on S-Nitrosation. Frontiers in Aging Neuroscience, 12, Article 254. https://doi.org/10.3389/fnagi.2020.00254

Reactive oxygen species and reactive nitrogen species (RONS) are by-products of aerobic metabolism. RONS trigger a signaling cascade that can be transduced through oxidation-reduction (redox)-based post-translational modifications (redox PTMs) of pro... Read More about Redox Post-translational Modifications of Protein Thiols in Brain Aging and Neurodegenerative Conditions—Focus on S-Nitrosation.

An ALS-linked mutation in TDP-43 disrupts normal protein interactions in the motor neuron response to oxidative stress (2020)
Journal Article
Feneberg, E., Gordon, D., Thompson, A. G., Finelli, M. J., Dafinca, R., Candalija, A., Charles, P. D., Mäger, I., Wood, M. J., Fischer, R., Kessler, B. M., Gray, E., Turner, M. R., & Talbot, K. (2020). An ALS-linked mutation in TDP-43 disrupts normal protein interactions in the motor neuron response to oxidative stress. Neurobiology of Disease, 144, Article 105050. https://doi.org/10.1016/j.nbd.2020.105050

TDP-43 pathology is a key feature of amyotrophic lateral sclerosis (ALS), but the mechanisms linking TDP-43 to altered cellular function and neurodegeneration remain unclear. We have recently described a mouse model in which human wild-type or mutant... Read More about An ALS-linked mutation in TDP-43 disrupts normal protein interactions in the motor neuron response to oxidative stress.

Neuronal over-expression of Oxr1 is protective against ALS-associated mutant TDP-43 mislocalisation in motor neurons and neuromuscular defects in vivo (2019)
Journal Article
Williamson, M. G., Finelli, M. J., Sleigh, J. N., Reddington, A., Gordon, D., Talbot, K., Davies, K. E., & Oliver, P. L. (2019). Neuronal over-expression of Oxr1 is protective against ALS-associated mutant TDP-43 mislocalisation in motor neurons and neuromuscular defects in vivo. Human Molecular Genetics, 28(21), 3584-3599. https://doi.org/10.1093/hmg/ddz190

A common pathological hallmark of amyotrophic lateral sclerosis (ALS) and the related neurodegenerative disorder frontotemporal dementia, is the cellular mislocalization of transactive response DNA-binding protein 43 kDa (TDP-43). Additionally, multi... Read More about Neuronal over-expression of Oxr1 is protective against ALS-associated mutant TDP-43 mislocalisation in motor neurons and neuromuscular defects in vivo.

Oxidation resistance 1 regulates post-translational modifications of peroxiredoxin 2 in the cerebellum (2018)
Journal Article
Svistunova, D. M., Simon, J. N., Rembeza, E., Crabtree, M., Yue, W. W., Oliver, P. L., & Finelli, M. J. (2019). Oxidation resistance 1 regulates post-translational modifications of peroxiredoxin 2 in the cerebellum. Free Radical Biology and Medicine, 130, 151-162. https://doi.org/10.1016/j.freeradbiomed.2018.10.447

Protein aggregation, oxidative and nitrosative stress are etiological factors common to all major neurodegenerative disorders. Therefore, identifying proteins that function at the crossroads of these essential pathways may provide novel targets for t... Read More about Oxidation resistance 1 regulates post-translational modifications of peroxiredoxin 2 in the cerebellum.

The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons (2018)
Journal Article
Finelli, M. J., Aprile, D., Castroflorio, E., Jeans, A., Moschetta, M., Chessum, L., Degiacomi, M. T., Grasegger, J., Lupien-Meilleur, A., Bassett, A., Rossignol, E., Campeau, P. M., Bowl, M. R., Benfenati, F., Fassio, A., & Oliver, P. L. (2019). The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons. Human Molecular Genetics, 28(4), 584-597. https://doi.org/10.1093/hmg/ddy370

Oxidation Resistance 1 Modulates Glycolytic Pathways in the Cerebellum via an Interaction with Glucose-6-Phosphate Isomerase (2018)
Journal Article
Finelli, M. J., Paramo, T., Pires, E., Ryan, B. J., Wade-Martins, R., Biggin, P. C., McCullagh, J., & Oliver, P. L. (2019). Oxidation Resistance 1 Modulates Glycolytic Pathways in the Cerebellum via an Interaction with Glucose-6-Phosphate Isomerase. Molecular Neurobiology, 56(3), 1558-1577. https://doi.org/10.1007/s12035-018-1174-x

Glucose metabolism is essential for the brain: it not only provides the required energy for cellular function and communication but also participates in balancing the levels of oxidative stress in neurons. Defects in glucose metabolism have been desc... Read More about Oxidation Resistance 1 Modulates Glycolytic Pathways in the Cerebellum via an Interaction with Glucose-6-Phosphate Isomerase.

TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features (2016)
Journal Article
Balestrini, S., Milh, M., Castiglioni, C., Lüthy, K., Verstreken, P., Cardon, A., Stražišar, B. G., Holder, J. L., Lesca, G., Mancardi, M. M., Finelli, M. J., Poulat, A. L., Repetto, G. M., Banka, S., Bilo, L., Birkeland, L. E., Bosch, F., Brockmann, K., Cross, J. H., Doummar, D., …Sisodiya, S. (2016). TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features. Neurology, 87(1), 77-85. https://doi.org/10.1212/wnl.0000000000002807

Objective: To evaluate the phenotypic spectrum associated with mutations in TBC1D24.

Methods: We acquired new clinical, EEG, and neuroimaging data of 11 previously unreported and 37 published patients. TBC1D24 mutations, identified through various... Read More about TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features.