Hautbergue, Guillaume, Professor

Professor Guillaume Hautbergue

FRSB, PhD, PGCertHE, FHEA

Neuroscience, School of Medicine and Population Health

Professor of Translational RNA Biology

Head of the RNA Biology Laboratory

MBChB Research SSC Academic Lead for the Medical School

Founding Director of Crucible Therapeutics

g.hautbergue@sheffield.ac.uk
+44 114 222 2252

+44 114 222 2278 (Administrator: Heather Cartledge)

��߲ݴ�ý Institute for Translational Neuroscience (SITraN)

Full contact details

Professor Guillaume Hautbergue
Neuroscience, School of Medicine and Population Health
��߲ݴ�ý Institute for Translational Neuroscience (SITraN)
385a Glossop Road
��߲ݴ�ý
S10 2HQ

Profile

Professor of Translational RNA Biology: January 2023 - present

Senior Lecturer in Translational RNA Biology January 2019 -December 2022

Lecturer in Translational Biology December 2012 - December 2018
Dr Hautbergue was recruited to the ��߲ݴ�ý Institute for Translational Neuroscience in August 2012 to set up the laboratory of RNA Molecular Biology, which is aimed at understanding the cause of gene expression dysregulation in neurodegenerative diseases, particularly focusing on ALS/MND, for the development of novel therapeutic strategies of neuroprotection.

Senior Experimental Officer March 2010 – November 2012

SITraN, University of ��߲ݴ�ý, U.K. August – November 2012. Setting up the RNA biology laboratory and my research group in SITraN to apply my scientific skills in RNA biology research to the understanding of RNA processing dysregulation in ALS/MND. Department of Molecular Biology and Biotechnology, University of ��߲ݴ�ý, U.K. March 2010 – July 2012

Structural and molecular mechanisms of human and viral mRNA nuclear export. Characterisation of ribonucleo-protein complexes. Expression, purification and solubility of proteins. Supervision of students/staff from other laboratories across Faculties. Module coordinator of undergraduate level 2 practical classes (MBB220, MBB226).

Qualifications

Post-Doctoral Research Associate January 2002 – February 2010
Department of Molecular Biology and Biotechnology, University of ��߲ݴ�ý, and Department of Biomolecular Sciences, University of Manchester Institute of Science and Technology, U.K.
Principal Investigator: Prof Stuart A. Wilson
The development of a general method to solubilise proteins led to the structure/function analysis of known and uncharacterised mRNA export adaptors establishing the presently accepted model for the molecular mechanisms of human mRNA nuclear export.

Ph.D. of Molecular and Cellular Biology (Very Best Commendation with Honour)
Université Pierre et Marie Curie Paris VI, Paris, France. August 1997 – September 2001
Department of Biochemistry and Molecular Genetics, Commissariat à l'Energie Atomique, Saclay, and Laboratory of Molecular Genetics, CNRS URA-1302, Ecole Normale Supérieure, Paris, France. Principal Investigator: Dr Valérie Goguel
Function of the yeast CTD Kinase I and atypical ubiquitin-mediated regulation of its activity.

French National Service October 1996 – July 1997
Sergeant (“Maréchal des Logis”) of the French Ground Armed Material Forces. Lead management training, First Help Training Certificate – Awarded a French National Defence bronze medal.

Molecular and Cellular Biology Advanced Studies Diploma June 1996
Université Pierre et Marie Curie Paris VI, Paris, France. Ranked in the top 3 for a Ph.D. fellowship.

M.Sc. Biochemistry (With Distinction) June 1995
Université Denis Diderot Paris VII, Paris, France.

Biochemistry Higher Technological Certificate (Best Commendation) June 1993
Ecole Nationale de Chimie Physique Biologie (ENCPB), Paris, France.

First National Prize in Biochemistry June 1990
France and French Overseas Countries in the competitive examination "Concours Général"

Biochemistry Baccalauréat (Best Commendation) June 1990
Lycée Pierre et Marie Curie, Sens, France

Research interests

Our research focuses on identifying pathophysiological alterations of gene expression in neurodegeneration for the development of novel therapeutic strategies using viral and non-viral gene therapy approaches.

Widespread dysregulation of the RNA metabolism has been recognised as a key pathological component causing multiple neurodegenerative disorders, including Amyotrophic Lateral Sclerosis (ALS), also known as motor neurone disease (MND, spinal muscular atrophy (SMA), Huntington’s disease (HD) and spinocerebellar ataxias (SCAs). Widespread alterations of transcriptomes have also been reported during physiological ageing of the brain while many neurodegenerative disorders are progressive late adult-onset diseases.

Although some genetic causes of often-fatal neurodegenerative diseases are known, the multifactorial molecular mechanisms governing pathogenesis and progression are still poorly understood. Genome-wide studies from cell or animal models and human post-mortem brains extensively described large alterations of transcriptomes at all levels of the RNA metabolism including RNA biogenesis and processing, axonal transport and translation. Thousands of changes were reported in multiple cellular pathways with dysregulation reaching up to one third of the TDP-43 linked ALS transcriptomes. Since it is not feasible to separately investigate all individual changes, it remains challenging to distinguish alterations that are causing neurodegeneration from those which are consequences of initial RNA dysregulation – a bottleneck for the development of novel therapies.

In fact, the functional outcomes of widespread RNA dysregulation in neurodegeneration and ageing remain largely uncharacterised at the protein level, which is ultimately linked to neuronal survival or death. Beyond our investigation of altered RNA/protein expression levels and the development of neuroprotective strategies, we also aim at answering challenging scientific questions concerning RNA dysregulation in neurodegeneration and ageing: Proportion and identities of abnormally processed RNA molecules that escape the safeguarding mechanisms of nuclear retention? Which abnormal proteins are synthesised from incorrectly processed RNAs? Roles of long intergenic non-coding (linc) RNAs that exhibit similar features to protein-coding genes?

Current Projects

Research in the laboratory currently focuses on the mechanisms of neurodegeneration and the identification of therapeutic strategies of neuroprotection in Amyotrophic Lateral Sclerosis (ALS) and Fragile X Tremor and Ataxia Syndrome (FXTAS). In particular, we aim to identify RNA changes that cause neurodegeneration and understand whether these involve converging mechanisms of altered RNA metabolism in different variants of diseases. We are also interested in investigating how these relate to sporadic ALS.

We use a combination of in vitro and in vivo models of diseases (mammalian cells, patient-derived neurons and astrocytes, Drosophila and mice) as well as molecular & cellular biology, biochemistry, structural/functional and OMICS investigations in association with the development of novel experimental methodologies to uncover molecular mechanisms of gene expression that cause and can rescue the neurodegeneration process.

Generation of non-neuronal and neuron-like inducible cell models of neurodegeneration to characterise early changes in gene expression and spread of dysregulation over time, in combination with studies in animal models and in astrocytes and motor neurons differentiated from induced neuronal progenitor cells (iNPCs) derived from patient fibroblasts. Whenever possible, we try validating our in vitro and in vivo results in human post mortem CNS tissues. We have access to one of the world largest collection of brain biosamples (��߲ݴ�ý Brain Tissue Bank).

Functional and structural studies to identify the molecular mechanisms driving the nuclear export and the repeat-associated non-AUG (RAN) translation in C9ORF72-ALS/FTD and FXTAS

Molecular mechanisms of TDP-43 proteinopathy, which involves the nuclear loss and cytoplasmic aggregation of TDP-43.

Functional analysis of the master energy homeostasis co-transcriptional activator PGC-1alpha in neuronal ageing and models of senescence.

Genome-wide identification of transcriptomes and translatomes.

Founding Director of Crucible Therapeutics, a University of ��߲ݴ�ý biotech spinout company, developing novel therapeutic strategies of neuroprotection. Our technology involves granted patents and new applications for the use of gene therapy approaches in the potential treatment of neurodegenerative disorders - with a current focus on C9ORF72-ALS/FTD.

Publications

Journal articles

Burrows DJ, McGown A, Abduljabbar O, Castelli LM, Shaw PJ, Hautbergue GM & Ramesh TM (2024) . Annals of Neurology.
Allen SP, Al Sultan A, Kabucho Kibirige E, Tonkiss E, Hamer KJ, Castelli LM, Lin Y-H, Roscoe S, Stefanidis N, Mead RJ , Highley JR et al (2023) . Frontiers in Aging Neuroscience, 15.
Moll T, Odon V, Harvey C, Collins MO, Peden A, Franklin J, Graves E, Marshall JN, Dos Santos Souza C, Zhang S , Castelli L et al (2023) . Life Sci Alliance, 6(1).
Bauer CS, Webster CP, Shaw AC, Kok JR, Castelli LM, Lin Y-H, Smith EF, Illanes-Álvarez F, Higginbottom A, Shaw PJ , Azzouz M et al (2022) . Frontiers in Cellular Neuroscience, 16.
Marchi PM, Marrone L, Brasseur L, Coens A, Webster CP, Bousset L, Destro M, Smith EF, Walther CG, Alfred V , Marroccella R et al (2022) . Life Sci Alliance, 5(9).
Castelli LM, Benson BC, Huang W-P, Lin Y-H & Hautbergue GM (2022) . Frontiers in Genetics, 13.
Karyka E, Berrueta Ramirez N, Webster CP, Marchi PM, Graves EJ, Godena VK, Marrone L, Bhargava A, Ray S, Ning K , Crane H et al (2022) . Life Science Alliance, 5(8), e202101145-e202101145.
Benson BC, Shaw PJ, Azzouz M, Highley JR & Hautbergue GM (2021) . Frontiers in Neuroscience, 15.
Hautbergue GM, Cleary JD, Guo S & Ranum LPW (2021) . Current Opinion in Neurology.
Castelli LM, Cutillo L, Souza CDS, Sanchez-Martinez A, Granata I, Lin Y-H, Myszczynska MA, Heath PR, Livesey MR, Ning K , Azzouz M et al (2021) . Molecular Neurodegeneration, 16(1).
Castelli LM, Huang W-P, Lin Y-H, Chang K-Y & Hautbergue GM (2021) . Biochemical Society Transactions.
Gatto N, Dos Santos Souza C, Shaw AC, Bell SM, Myszczynska MA, Powers S, Meyer K, Castelli LM, Karyka E, Mortiboys H , Azzouz M et al (2020) . Aging Cell.
De Marco M, Manca R, Kirby J, Hautbergue G, Blackburn DJ, Wharton S & Venneri A (2020) . Alzheimer's & Dementia, 16(S4).
De Marco M, Manca R, Kirby J, Hautbergue GM, Blackburn DJ, Wharton SB & Venneri A (2020) . Current Alzheimer Research, 17.
Myszczynska MA, Ojamies PN, Lacoste AMB, Neil D, Saffari A, Mead R, Hautbergue GM, Holbrook JD & Ferraiuolo L (2020) . Nature Reviews Neurology, 16, 440-456.
Allen S, Hall B, Castelli L, Frances L, Woof R, Siskos A, Kouloura E, Gray E, Thompson A, Talbot K , Higginbottom A et al (2019) . Brain, 142(3), 586-605.
López KLR, Simpson JE, Watson LC, Mortiboys H, Hautbergue GM, Bandmann O & Highley JR (2019) . Brain Research, 1706, 218-223.
Cooper-Knock J, Moll T, Ramesh T, Castelli L, Beer A, Robins H, Fox I, Niedermoser I, Van Damme P, Moisse M , Robberecht W et al (2019) . Cell Reports, 26(9), 2298-2306.e5.
Ferraiuolo L, Varcianna AE, Myszczynska MA, Castelli LM, O'Neill B, Kim Y, Talbot J, Nyberg S, Nymali I, Heath PR , Stopford MJ et al (2019) . EBioMedicine, 40, 626-635.
Shaw MP, Higginbottom A, Mcgown A, Castelli LM, James E, Hautbergue GM, Shaw PJ & Ramesh TM (2018) . Acta Neuropathologica Communications, 6(1).
Iannitti T, Scarrott J, Likhite S, Coldicott IRP, Lewis KE, Heath PR, Higginbottom A, Myszczynska MA, Milo M, Hautbergue GM , Meyer K et al (2018) . Molecular Therapy : Nucleic Acids, 12, 75-88.
Morgan SV, Garwood CJ, Jennings L, Simpson JE, Castelli LM, Heath PR, Mihaylov SR, Vaquéz-Villaseñor I, Minshull TC, Ince PG , Dickman MJ et al (2018) . European Journal of Neuroscience, 47(12), 1444-1456.
Rust A, Shah S, Hautbergue G & Davletov B (2018) . Toxins, 10(7), 261-261.
Castelli LM, Lin YH, Ferraiuolo L, Sanchez-Martinez A, Ning KE, Azzouz M, Whitworth A, Shaw PJ & Hautbergue GM (2018) . Therapeutic Targets for Neurological Diseases, 4.
Cooper-Knock J, Robins H, Niedermoser I, Wyles M, Heath PR, Higginbottom A, Walsh T, Kazoka M, Ince PG, Hautbergue GM , McDermott CJ et al (2017) . Frontiers in Molecular Neuroscience, 10, 370-370.
Chandran JS, Sharp PS, Karyka E, Aves-Cruzeiro JMDC, Coldicott I, Castelli L, Hautbergue G, Collins MO & Azzouz M (2017) . Scientific Reports, 7(1).
Hautbergue GM (2017) . Adv Exp Med Biol, 1007, 89-109.
Walker C, Herranz-Martin S, Karyka E, Liao C, Lewis K, Lukashchuk V, Chiang S-C, Ray S, Mulcahy PJ, Jurga M , Tsagakis I et al (2017) . Nature Neuroscience, 20, 1225-1235.
Hautbergue GM, Castelli LM, Ferraiuolo L, Sanchez-Martinez A, Cooper-Knock J, Higginbottom A, Lin YH, Bauer CS, Dodd JE, myszczynska MA , Alam SM et al (2017) . Nature Communications, 8.
Stopford M, Higginbottom A, Hautbergue , Cooper-Knock , Mulcahy , De Vos K, Renton A, Pliner H, Calvo A, Chio A , Traynor B et al (2017) . Human Molecular Genetics, 26(6), 1133-1145.
Webster CP, Smith EF, Bauer CS, Moller A, Hautbergue GM, Ferraiuolo L, Myszczynska MA, Higginbottom A, Walsh MJ, Whitworth AJ , Kaspar BK et al (2016) . EMBO Journal, 35(15), 1656-1676.
Hautbergue GM (2016) Widespread RNA dysregulation in neurodegeneration: Challenges and Opportunities. Austin Neurology, 1(1).
Rust A, Hassan HHA, Sedelnikova S, Niranjan D, Hautbergue G, Abbas SA, Partridge L, Rice D, Binz T & Davletov B (2015) . Scientific Reports, 5, 12444-12444.
Cooper-Knock J, Higginbottom A, Stopford MJ, Highley JR, Ince PG, Wharton SB, Pickering-Brown S, Kirby J, Hautbergue GM & Shaw PJ (2015) . Acta Neuropathologica, 130(1), 63-75.
Cooper-Knock J, Bury JJ, Heath PR, Wyles M, Higginbottom A, Gelsthorpe C, Highley JR, Hautbergue G, Rattray M, Kirby J & Shaw PJ (2015) . PLOS ONE, 10(5), e0127376-e0127376.
Tazzyman S, Hautbergue G, Khurram A, Bryan M, Chantry A & Fragiadaki M (2015) . Journal of Clinical Oncology, 33(15_suppl), e12018-e12018.
Snijders AP, Hautbergue GM, Bloom A, Williamson JC, Minshull TC, Phillips HL, Mihaylov SR, Gjerde DT, Hornby DP, Wilson SA , Hurd PJ et al (2015) . RNA, 21(3), 347-359.
Walsh MJ, Cooper-Knock J, Dodd JE, Stopford MJ, Mihaylov SR, Kirby J, Shaw PJ & Hautbergue GM (2015) . Neuropathology and Applied Neurobiology, 41(2), 109-134.
Caballero-Lima D, Hautbergue GM, Wilson SA & Sudbery PE (2014) . Molecular Microbiology, 94(4), 828-842.
Cooper-Knock J, Walsh MJ, Higginbottom A, Robin Highley J, Dickman MJ, Edbauer D, Ince PG, Wharton SB, Wilson SA, Kirby J , Hautbergue GM et al (2014) . Brain, 137(Pt 7), 2040-2051.
Cooper-Knock J, Walsh M, Higginbottom A, Highley JR, Bury J, Dickman M, Rattray M, Heath P, Wyles M, Ince P , Wharton S et al (2014) . Neurology, 82(10_supplement).
Cooper-Knock J, Walsh M, Higginbottom A, Highley JR, Bury J, Dickman M, Rattray M, Heath P, Wyles M, Ince P , Wharton S et al (2014) . Neurology, 82(10_supplement).
Tunnicliffe RB, Hautbergue GM, Wilson SA, Kalra P & Golovanov AP (2014) . PLoS Pathogens, 10(2).
Walsh MJ, Dodd JE & Hautbergue GM (2013) . RNA Biology, 10(12), 1760.
Walsh MJ, Dodd JE & Hautbergue GM (2013) . Virulence, 4(8), 774-784.
Chang C-T, Hautbergue GM, Walsh MJ, Viphakone N, van Dijk TB, Philipsen S & Wilson SA (2013) . EMBO J, 32(3), 473-486.
Viphakone N, Hautbergue GM, Walsh M, Chang CT, Holland A, Folco EG, Reed R & Wilson SA (2013) . Nat Commun, 4, 2377.
Viphakone N, Hautbergue GM, Walsh M, Chang C-T, Holland A, Folco EG, Reed R & Wilson SA (2012) . Nat Commun, 3, 1006.
Hautbergue GM & Wilson SA (2012) . Biochem Soc Trans, 40(4), 842-845.
Knuckles P, Vogt MA, Lugert S, Milo M, Chong MMW, Hautbergue GM, Wilson SA, Littman DR & Taylor V (2012) . Nat Neurosci, 15(7), 962-969.
Phelan MM, Goult BT, Clayton JC, Hautbergue GM, Wilson SA & Lian L-Y (2012) . Nucleic Acids Res, 40(7), 3232-3244.
Hautbergue G (2012) . Med Sci (Paris), 28(3), 262-264.
Cruz-Migoni A, Hautbergue GM, Artymiuk PJ, Baker PJ, Bokori-Brown M, Chang C-T, Dickman MJ, Essex-Lopresti A, Harding SV, Mahadi NM , Marshall LE et al (2011) . Science, 334(6057), 821-824.
Jackson BR, Boyne JR, Noerenberg M, Taylor A, Hautbergue GM, Walsh MJ, Wheat R, Blackbourn DJ, Wilson SA & Whitehouse A (2011) . PLoS Pathog, 7(7), e1002138.
Van Hateren NJ, Das RM, Hautbergue GM, Borycki A-G, Placzek M & Wilson SA (2011) . Development, 138(10), 1893-1902.
Tunnicliffe RB, Hautbergue GM, Kalra P, Jackson BR, Whitehouse A, Wilson SA & Golovanov AP (2011) . PLoS Pathog, 7(1), e1001244.
Clayton JC, Phelan M, Goult BT, Hautbergue GM, Wilson SA & Lian L-Y (2011) . Biomol NMR Assign, 5(1), 7-10.
Hung ML, Hautbergue GM, Snijders AP, Dickman MJ & Wilson SA (2010) . Nucleic Acids Res, 38(10), 3351-3361.
Walsh MJ, Hautbergue GM & Wilson SA (2010) . Biochem Soc Trans, 38(Pt 1), 232-236.
Clayton JC, Phelan M, Goult BT, Hautbergue GM, Wilson SA & Lian L-Y (2010) The 1H, 13C and 15N backbone and side-chain assignment of the RRM domain of SC35, a regulator of pre-mRNA splicing. Biomolecular NMR Assignments, 1-4.
Hautbergue GM, Hung M-L, Walsh MJ, Snijders APL, Chang C-T, Jones R, Ponting CP, Dickman MJ & Wilson SA (2009) . Curr Biol, 19(22), 1918-1924.
Hautbergue GM & Golovanov AP (2008) . J Magn Reson, 191(2), 335-339.
Hautbergue GM, Hung M-L, Golovanov AP, Lian L-Y & Wilson SA (2008) . Proc Natl Acad Sci U S A, 105(13), 5154-5159.
Tintaru AM, Hautbergue GM, Hounslow AM, Hung M-L, Lian L-Y, Craven CJ & Wilson SA (2007) . EMBO Rep, 8(8), 756-762.
Tintaru AM, Hautbergue GM, Hounslow AM, Lian L-Y, Wilson SA & Craven CJ (2007) . J Biomol NMR, 38(2), 193.
Hargous Y, Hautbergue GM, Tintaru AM, Skrisovska L, Golovanov AP, Stevenin J, Lian L-Y, Wilson SA & Allain FH-T (2006) . EMBO J, 25(21), 5126-5137.
Golovanov AP, Hautbergue GM, Tintaru AM, Lian L-Y & Wilson SA (2006) . RNA, 12(11), 1933-1948.
Golovanov AP, Hautbergue GM, Wilson SA & Lian L-Y (2006) . J Biomol NMR, 36 Suppl 1, 41.
Williams BJL, Boyne JR, Goodwin DJ, Roaden L, Hautbergue GM, Wilson SA & Whitehouse A (2005) . Biochem J, 387(Pt 2), 295-308.
Golovanov AP, Hautbergue GM, Wilson SA & Lian L-Y (2004) . J Am Chem Soc, 126(29), 8933-8939.
Bouchoux C, Hautbergue G, Grenetier S, Carles C, Riva M & Goguel V (2004) . Nucleic Acids Res, 32(19), 5851-5860.
Hautbergue G & Goguel V (2001) . J Biol Chem, 276(11), 8005-8013.
Hautbergue G & Goguel V (1999) . Mol Cell Biol, 19(4), 2527-2534.
Mihaylov SR, Castelli LM, Lin Y-H, Gül A, Soni N, Hastings C, Flynn HR, Păun O, Dickman MJ, Snijders AP , Goldstone R et al () . Nature Communications, 14(1).
Hautbergue G () A cell-penetrant peptide blocking C9ORF72-repeat RNA nuclear export reduces the neurotoxic effects of dipeptide repeat proteins. Science Translational Medicine.
Cooper‐Knock J, Julian TH, Feneberg E, Highley JR, Sidra M, Turner MR, Talbot K, Ansorge O, Allen SP, Moll T , Shelkovnikova T et al () . Brain Pathology.
Rust A, Partridge L, Davletov B & Hautbergue G () . Toxins, 9(11), 344-344.
Patera F, Hautbergue GM, Wilson P, Evans PC, Ong ACM & Fragiadaki M () .

Chapters

Shelkovnikova TA & Hautbergue GM (2024) , International Review of Neurobiology Elsevier

Conference proceedings papers

Cooper-Knock J, Moll T, Ramesh T, Castelli L, Shaw C, Al-Chalabi A, McDermott C, Hautbergue G & Shaw P (2019) . Journal of Neurology Neurosurgery & Psychiatry, Vol. 90(12) (pp e10)
Cooper-Knock J, Moll T, Ramesh T, Castelli L, Shaw C, Al-Chalabi A, McDermott C, Hautbergue G & Shaw P (2019) MUTATIONS IN THE GLYCOSYLTRANSFERASE DOMAIN OF GLT8D1 CAUSE ALS. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, Vol. 90(12) (pp E20-E21)
Alves-Cruzeiro JM, Karyka E, Bauer C, Coldicott I, Simon S, Hautbergue GM, Webster C, Myszczynska M, Higginbottom A, Ferraiuolo L & Azzouz M (2019) Gene editing as a potential therapeutic approach for ALS/FTD-associated with expanded C9ORF72. HUMAN GENE THERAPY, Vol. 30(8) (pp A22-A22)
Alves-Cruzeiro J, Karyka E, Bauer C, Coldicott I, Hautbergue G, Webster C, Castelli L, Simon S, Myszczynska M, Ferraiuolo L & Azzouz M (2019) AAV-mediated gene editing as a potential therapeutic approach for C9ORF72-linked ALS/FTD. HUMAN GENE THERAPY, Vol. 30(11) (pp A96-A96)
Allen SP, Hall B, Castelli L, Francis L, Woof R, Higginbottom A, Myszczynska M, Allen CF, Stopford MJ, Webster CP , De Vos K et al (2018) . Biochimica et Biophysica Acta (BBA) - Bioenergetics, Vol. 1859 (pp e23-e23)
Tazzyman S, Hautbergue G, Khurram A, Bryan M, Chantry A & Fragiadaki M (2015) The application of antibotoxsome, a novel cytotoxic conjugate, in cell death in in vitro models of pancreatic, liver, breast, cervical cancer, and myeloma.. Journal of Clinical Oncology, Vol. 33(15)

Datasets

Gatto N, Souza CDS, Bell S, Shaw A, Myszczynska M, Powers S, Meyer K, Heath P, Castelli L, Karyka E , Mortiboys H et al .

Preprints

Lin Y-H, Dodd JE, Cutillo L, Castelli LM, Mihaylov SR, Norris K, Higginbottom A, Walsh MJ, Cooper-Knock J, Highley JR , Granata I et al (2024) , Cold Spring Harbor Laboratory.
Burrows DJ, McGown A, Abduljabbar O, Castelli LM, Shaw PJ, Hautbergue GM & Ramesh TM (2024) , Cold Spring Harbor Laboratory.
Marchi PM, Marrone L, Brasseur L, Bousset L, Webster CP, Destro M, Smith EF, Walther CG, Alfred V, Marroccella R , Robinson D et al () , Cold Spring Harbor Laboratory.
Mihaylov SR, Castelli LM, Lin Y-H, Gül A, Soni N, Hastings C, Flynn HR, Dickman MJ, Snijders AP, Bandmann O , Mortiboys H et al () , Cold Spring Harbor Laboratory.
Castelli LM, Sanchez-Martinez A, Lin Y-H, Upadhyay SK, Higginbottom A, Cooper-Knock J, Gül A, Walton A, Montmasson C, Cohen R , Bauer CS et al () , Cold Spring Harbor Laboratory.
Castelli LM, Cutillo L, Souza CDS, Sanchez-Martinez A, Granata I, Myszczynska MA, Heath PR, Livesey MR, Ning K, Azzouz M , Shaw PJ et al () , Cold Spring Harbor Laboratory.
Cooper-Knock J, Moll T, Ramesh T, Castelli L, Beer A, Robins H, Fox I, Niedermoser I, Van Damme P, Robberecht W , Hardiman O et al () .

Research group

Dr Ya-Hui Lin (Post-doctoral Research Associate)
Dr Kamallia Mohd Imran (Post-doctoral Research Associate)
Dr Dave Burrows (Post-doctoral Research Associate)
Dr Monika Myszczynska (Post-doctoral Research Associate)
Dr Cleide Dos Santos Souza (Post-doctoral Research Associate)
Chloé Moutin (Research Technician)
Aytaç Gül (PhD student, primary supervisor)
Nikita Soni (PhD student, primary supervisor)
Sajid Shah (PhD student, primary supervisor)
Emma Bray (PhD student, primary supervisor)
Emily Tilley (PhD student, secondary supervisor)
Andreas Kosteletos (PhD student, secondary supervisor)
Duncan Garner (PhD student, secondary supervisor)
André Varcianna (PhD student, secondary supervisor)
Allan Shaw (PhD student, secondary supervisor)
Farah Mahiddine (PhD student, secondary supervisor)
Ouidad Khechaoui (PhD student, secondary supervisor)

Grants

Many thanks to the following funding bodies supporting our research:

Medical Research Council (MRC)
Biotechnology and Biological Sciences Research Council (BBSRC)
Engineering and Physical Sciences Research Council (EPSRC)
LifeArc
Motor Neurone Disease Association
The Royal Society
Alzheimer's Research UK
Industry: Takeda

Teaching activities

MBChB Research SSC Academic Lead for the Medical School (MED211)

MSc Advanced Cell and Gene Therapies course

- Module Lead Principles of Gene and Cell therapies (NEU61008)

- Module Lead Lab Research projects (MED625)

- Academic Drug Discovery case study (NEU61009)

- Journal club (NEU61011)

MSc in Translational Neuroscience and MSc in Translational Neuropathology courses:

- Introduction to RNA biology (MED620)
- RNA dysregulation in Amyotrophic Lateral Sclerosis (MED623)

- Introduction to translatomes (MED671)
- Laboratory research projects

Laboratory projects concerning the molecular mechanisms of neurodegeneration in MND/ALS are available during the Student Selected Component of Phase 2A medical students.

Outreach engagement with local primary and secondary schools and the public during Science week and Festival of the Mind and SITraN open days/symposium.

Professional activities and memberships

Invited and elected Fellow of the Royal Society of Biology (FRSB) in recognition of a prominent contribution to the advancement of the biological sciences (since 2019)
Member of the Biochemical Society (since 2013)
Editorial board member of the journal “RNA and Disease” (since 2014)
My Name’5 Doddie Foundation Grant Panel member (since 2023)
Member of the Department of Neuroscience Health and Safety Committee (since 2015)
Responsible and Holder of the Departmental licenses for radioactive work (since 2013)
PhD examination: (i) External examiner on 7 occasions (University College London, University of Oxford, King’s College London, Rhodes University in South Africa); (ii) Internal examiner on 6 occasions
Reviewing activities (since 2013): Grants: Medical Research Council (MRC), Biotechnology and Biological Sciences Research Council (BBSRC), MND Association, Academy of Medical Sciences, MRC Foundation (MRF), European Research Council (ERC), French National Research Agency (ANR), French AFM Telethon, US National Science Foundation, Dutch ZonMw Vidi programs, Fondation Suisse de Recherche sur les Maladies Musculaires, Belgian Foundation against Cancer, etc.
Research articles and reviews: Nature, Nature Communications, Gene Therapy, Science Translational Medicine, Nucleic Acids Research, Neuron, EMBO J, Brain, Nature Methods, Nature Chemical Biology, Science Advances, Scientific Reports, etc.
Outreach activities in local schools and for public events in ��߲ݴ�ý (since 2013)

Research group collaborators

ALS and neurodegeneration: Prof Dame Pamela Shaw, Prof Mimoun Azzouz, Dr Richard Mead, Dr Tatyana Shelkovnikova, Dr Ryan West, Dr Suman De, Dr Johnathan Cooper-Knock, Prof Kurt De Vos and other colleagues (SITraN, University of ��߲ݴ�ý, UK); Dr Alexander Withworth (MRC Mitochondrial Biology Unit, University of Cambridge, UK); Prof Kung-Yao Chang (National Chung-Hsing University, Taiwan); Dr Adrian Isaacs (University College London Institute of Neurology, UK)
Structure determination of ribonucleoprotein complexes: Prof Frédéric HT Allain (Institute of Molecular Biology and Biophysics, ETH Zürich, Switzerland) and Dr Cyril Dominguez (Department of Molecular and Cell Biology, University of Leicester, UK)
Protein methylation and citrullination, mass spectrometry, quantitative proteomics: Prof Mark Dickman (Chemical and Biological Engineering, University of ��߲ݴ�ý, UK)
Neuropathology, ageing and senescence: Prof Steve Wharton and Dr Robin Highley (SITraN, University of ��߲ݴ�ý); Prof Ilaria Bellantuono (Clinical Medicine, University of ��߲ݴ�ý, UK).
Parkinson’s disease: Prof Oliver Bandmann and Prof Heather Mortiboys (SITraN, University of ��߲ݴ�ý, UK)

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School of Medicine and Population Health