Dr Tobias Moll
PhD
School of Medicine and Population Health
MND Association Lady Edith Wolfson Research Fellow
tobias.moll@sheffield.ac.uk
B27, Sheffield Institute for Translational Neuroscience (SITraN)
Full contact details
Dr Tobias Moll
School of Medicine and Population Health
B27
Sheffield Institute for Translational Neuroscience (SITraN)
385a Glossop Road
Sheffield
S10 2HQ
School of Medicine and Population Health
B27
Sheffield Institute for Translational Neuroscience (SITraN)
385a Glossop Road
Sheffield
S10 2HQ
- Profile
-
I was awarded my PhD from the University of Sheffield in 2020 for my thesis describing novel genetic drivers of amyotrophic lateral sclerosis (ALS), conducted under the supervision of Professor Dame Pamela Shaw and Dr. Johnathan Cooper-Knock. I undertook postdoctoral training in the same lab to build upon my PhD research which included a period of study in California, USA. I was then awarded a Lady Edith Wolfson MND Association Fellowship in 2024 to investigate disruption of membrane lipid raft homeostasis and localised neurotrophin signalling impairments in ALS.
- Publications
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Journal articles
- An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2. European Journal of Human Genetics. View this article in WRRO
- Rare and common genetic determinants of mitochondrial function determine severity but not risk of amyotrophic lateral sclerosis. Heliyon, 10(3). View this article in WRRO
- Low expression of EXOSC2 protects against clinical COVID-19 and impedes SARS-CoV-2 replication. Life Science Alliance, 6(1). View this article in WRRO
- Atypical TDP-43 protein expression in an ALS pedigree carrying a p.Y374X truncation mutation in TARDBP. Brain Pathology, 33(1). View this article in WRRO
- Unbiased metabolome screen leads to personalized medicine strategy for amyotrophic lateral sclerosis. Brain Communications, 4(2). View this article in WRRO
- Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis. Neuron, 110(6), 992-1008. View this article in WRRO
- A review of Mendelian randomization in amyotrophic lateral sclerosis. Brain, 145(3), 832-842. View this article in WRRO
- Membrane lipid raft homeostasis is directly linked to neurodegeneration. Essays in Biochemistry, 65(7), 999-1011. View this article in WRRO
- Advances in the genetic classification of amyotrophic lateral sclerosis. Current Opinion in Neurology, 34(5), 756-764. View this article in WRRO
- Physical exercise is a risk factor for amyotrophic lateral sclerosis: Convergent evidence from Mendelian randomisation, transcriptomics and risk genotypes. EBioMedicine, 68. View this article in WRRO
- Rare variant burden analysis within enhancers identifies CAV1 as an ALS risk gene.. Cell Rep, 34(5), 108730.
- Simultaneous ALS and SCA2 associated with an intermediate-length ATXN2 CAG-repeat expansion. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 22(7-8), 579-582. View this article in WRRO
- Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene. Cell Reports, 33(9). View this article in WRRO
- Preclinical models of disease and multimorbidity with focus upon cardiovascular disease and dementia. Mechanisms of Ageing and Development, 192, 111361-111361.
- Concurrent sodium channelopathies and amyotrophic lateral sclerosis supports shared pathogenesis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 21(7-8), 627-630. View this article in WRRO
- Disrupted glycosylation of lipids and proteins is a cause of neurodegeneration. Brain, 143(5), 1332-1340. View this article in WRRO
- Mutations in the glycosyltransferase domain of GLT8D1 are associated with familial amyotrophic lateral sclerosis. Cell Reports, 26(9), 2298-2306.e5. View this article in WRRO
Conference proceedings papers
- 11.30 Mutations in the glycosyltransferase domain of GLT8D1 cause ALS. Journal of Neurology, Neurosurgery & Psychiatry, Vol. 90(12) (pp e10.3-e11)
Preprints
- An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2, Springer Science and Business Media LLC.
- GLT8D1 mutations cause amyotrophic lateral sclerosis via disruption of neurotrophin signalling within membrane lipid rafts, Cold Spring Harbor Laboratory.
- Low expression of EXOSC2 protects against clinical COVID-19 and impedes SARS-CoV-2 replication, Cold Spring Harbor Laboratory.
- Genome-wide Identification of the Genetic Basis of Amyotrophic Lateral Sclerosis, Cold Spring Harbor Laboratory.
- Physical exercise is a risk factor for amyotrophic lateral sclerosis: Convergent evidence from mendelian randomisation, transcriptomics and risk genotypes.
- Genome-Wide Identification of the Genetic Basis of Amyotrophic Lateral Sclerosis.
- Rare Variant Burden Analysis within Enhancers Identifies <i>CAV1</i> as a New ALS Risk Gene.
- Mutations in the Glycosyltransferase Domain of GLT8D1 Cause Amyotrophic Lateral Sclerosis.
- An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2. European Journal of Human Genetics. View this article in WRRO
- Research group
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- Connie Treanor (PhD student)
- Akanksha Jangid (Research Assistant)