Skip to main content

Research Repository

Advanced Search

All Outputs (21)

Enhancing research culture in academia: a spotlight on early career researchers (2023)
Journal Article
Chisholm, K. I., & Finelli, M. J. (in press). Enhancing research culture in academia: a spotlight on early career researchers. BMC Neuroscience, 24(1), Article 46. https://doi.org/10.1186/s12868-023-00816-1

This editorial highlights common challenges faced by early career researchers (ECRs) who play a crucial role in our research community. We propose that enhancing the experiences of ECRs will yield benefits to the entire scientific community and we gi... Read More about Enhancing research culture in academia: a spotlight on early career researchers.

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., …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., …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., …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., …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.

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., …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., …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.

Oxr1 improves pathogenic cellular features of ALS-associated FUS and TDP-43 mutations (2015)
Journal Article
Finelli, M. J., Liu, K. X., Wu, Y., Oliver, P. L., & Davies, K. E. (2015). Oxr1 improves pathogenic cellular features of ALS-associated FUS and TDP-43 mutations. Human Molecular Genetics, 24(12), 3529-3544. https://doi.org/10.1093/hmg/ddv104

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the loss of motor neuron-like cells. Mutations in the RNA- and DNA-binding proteins, fused in sarcoma (FUS) and transactive response DNA-binding protein 43 kDa (TDP-4... Read More about Oxr1 improves pathogenic cellular features of ALS-associated FUS and TDP-43 mutations.

Laf4/Aff3, a Gene Involved in Intellectual Disability, Is Required for Cellular Migration in the Mouse Cerebral Cortex (2014)
Journal Article
Moore, J. M., Oliver, P. L., Finelli, M. J., Lee, S., Lickiss, T., Molnár, Z., & Davies, K. E. (2014). Laf4/Aff3, a Gene Involved in Intellectual Disability, Is Required for Cellular Migration in the Mouse Cerebral Cortex. PLoS ONE, 9(8), 1-11. https://doi.org/10.1371/journal.pone.0105933

Members of the AFF (AF4/FMR2) family of putative transcription factors are involved in infant acute leukaemia and intellectual disability (ID), although very little is known about their transcriptional targets. For example, deletion of human lymphoid... Read More about Laf4/Aff3, a Gene Involved in Intellectual Disability, Is Required for Cellular Migration in the Mouse Cerebral Cortex.

Epigenetic Regulation of Sensory Axon Regeneration after Spinal Cord Injury (2013)
Journal Article
Finelli, M. J., Wong, J. K., & Zou, H. (2013). Epigenetic Regulation of Sensory Axon Regeneration after Spinal Cord Injury. Journal of Neuroscience, 33(50), 19664-19676. https://doi.org/10.1523/jneurosci.0589-13.2013

Axon regeneration is hindered by a decline of intrinsic axon growth capability in mature neurons. Reversing this decline is associated with the induction of a large repertoire of regeneration-associated genes (RAGs), but the underlying regulatory mec... Read More about Epigenetic Regulation of Sensory Axon Regeneration after Spinal Cord Injury.

Differential Phosphorylation of Smad1 Integrates BMP and Neurotrophin Pathways through Erk/Dusp in Axon Development (2013)
Journal Article
Finelli, M., Murphy, K., Chen, L., & Zou, H. (2013). Differential Phosphorylation of Smad1 Integrates BMP and Neurotrophin Pathways through Erk/Dusp in Axon Development. Cell Reports, 3(5), 1592-1606. https://doi.org/10.1016/j.celrep.2013.04.011

Sensory axon development requires concerted actions of growth factors for the precise control of axonal outgrowth and target innervation. How developing sensory neurons integrate different cues is poorly understood. We demonstrate here that Smad1 act... Read More about Differential Phosphorylation of Smad1 Integrates BMP and Neurotrophin Pathways through Erk/Dusp in Axon Development.

Oxr1 Is Essential for Protection against Oxidative Stress-Induced Neurodegeneration (2011)
Journal Article
Oliver, P. L., Finelli, M. J., Edwards, B., Bitoun, E., Butts, D. L., Becker, E. B. E., …Davies, K. E. (2011). Oxr1 Is Essential for Protection against Oxidative Stress-Induced Neurodegeneration. PLoS Genetics, 7(10), Article e1002338. https://doi.org/10.1371/journal.pgen.1002338

Oxidative stress is a common etiological feature of neurological disorders, although the pathways that govern defence against reactive oxygen species (ROS) in neurodegeneration remain unclear. We have identified the role of oxidation resistance 1 (Ox... Read More about Oxr1 Is Essential for Protection against Oxidative Stress-Induced Neurodegeneration.