Biography:

Sam obtained her Ph.D. in Genetics from Churchill College and the Department of Genetics, University of Cambridge, UK.  She then moved to the Ludwig Institute of Cancer Research (UCL) to work on cellular signalling.  She joined MRC Toxicology Unit in 2004 to launch genetic screening of molecular markers affecting neuronal outgrowth and degeneration.  This work was performed in the ‘Neuroscience’ group of the former director, Prof. P. Nicotera.  Under the directorship of Prof. A. Willis, Sam joined the ‘Mitochondrial and Cell Death Following Toxic Injury’ group to explore the use of Drosophila melanogaster as an animal model system to study molecular and cellular mechanisms involved in human diseases such as cancer and neurodegeneration.

Research Interests:

Sam’s major research interests are using the fruit fly, Drosophila melanogaster, as an in vivo animal model system to address complex biological questions at the molecular and cellular level.  Based on the skills and expertise she acquired during her Ph.D. training, she has established a research facility employing the fruit fly as an animal model in the MRC Toxicology Unit since 2007.  Her research focuses on molecular signalling pathways associated with cancer biology and neurodegenerative diseases.  Her early contribution has been to establish an in vivo study of the modulators of apoptotic cell death in Drosophila.  Subsequently, she established a genetic model of mitochondrial dysfunction associated with Parkinson’s and Alzheimer’s disease and identified genetic interactions and molecular signalling pathways for several mitochondrial protective genes.  Her research has now expanded to the study of the ultrastructure of cellular organelles, specifically mitochondria and endoplasmic reticulum, by high resolution imaging as well as establishing an expertise in Drosophila optogenetics.  Meanwhile in line with the Unit mission, she has also utilised Drosophila for toxicology studies, as this is an excellent tool to investigate the molecular and genetics mechanisms of toxic substances.

Key Publications:

1. Yu, Yizhou; Fedele, Giorgio; Celardo, Ivana; Loh, Samantha HY; Martins, L Miguel; "Parp mutations protect from mitochondrial toxicity in Alzheimer’s disease”, Cell Death and Disease (2021)
2. Popovic, Rebeka; Celardo, Ivana; Yu, Yizhou; Costa, Ana C; Loh, Samantha HY; Martins, L Miguel; "Combined Transcriptomic and Proteomic Analysis of Perk Toxicity Pathways”, International Journal of Molecular Sciences (2021)
3. Scialò, Filippo; Sriram, Ashwin; Stefanatos, Rhoda; Spriggs, Ruth V; Loh, Samantha HY; Martins, L Miguel; Sanz, Alberto; "Mitochondrial complex I derived ROS regulate stress adaptation in Drosophila melanogaster”, Redox Biology (2020)
4. Garrido-Maraver, Juan; Loh, Samantha HY; Martins, L Miguel; "Forcing contacts between mitochondria and the endoplasmic reticulum extends lifespan in a Drosophila model of Alzheimer's disease”, Biology Open (2020)
5. Garrido-Maraver, Juan; Celardo, Ivana; Costa, Ana C; Lehmann, Susann; Loh, Samantha HY; Martins, L Miguel; "Enhancing folic acid metabolism suppresses defects associated with loss of Drosophila mitofusin”, Cell death & disease (2019)
6. Lynch DS, Loh SHY, Harley J, Noyce AJ, Martins LM, Wood NW, Houlden H, and Plun-Favreau H (2017) Non-syndromic Parkinson's disease in a family with Autosomal Dominant Optic Atrophy due to OPA1 mutation. Neurology Genetics 3 (5), e188
7. Hall C, Choi M, Yao Z, Tyzac G, Preza E, Arber C, Crisp S, Watson PMD, Kullmann D, Abramov A, Wray S, Sibley C, Lakatos A, Loh SHY, Martins LM, Ule J, Gandhi S, Patani R. (2017) VCP mutations induce motor neuron-specific phenotypes in a human induced pluripotent stem cell model. Cell Reports, 19(9), 1739-1749
8. Lehmann S, Jardine J, Garrido-Maraver J, Loh SHY, Martins LM (2017) Folinic acid is neuroprotective in a fly model of Parkinson’s disease associated with pink1 mutations. Matters, 3(3), pp1-4
9. Celardo, I., Lehmann, S., Costa, A. C., Loh, SHY, & Martins, LM (2017). dATF4 regulation of mitochondrial one-carbon metabolism is neuroprotective. Cell Death and Differentiation, 24(4), 638–648
10. Lehmann S, Loh SHY, Martins LM (2016) Enhancing NAD+ salvage metabolism is neuroprotective in a PINK1 model of Parkinson’s disease. Biology Open, 6(2), bio.022186–7.
11. Celardo I, Costa AC, Lehmann S, Jones C, Wood N, Mencacci NE, Mallucci GR, Loh SHY and Martins LM (2016) Mitofusin-mediated ER stress triggers neurodegeneration in pink1/parkin models of Parkinson's disease. Cell Death Dis, 7(6): p. e2271.
12. Lehmann S, Costa AC, Celardo I, Loh SHY, Martins LM (2016) Parp mutations protect against mitochondrial dysfunction and neurodegeneration in a PARKIN model of Parkinson’s disease. Cell Death Dis, 7: p. e2166.