Boris Rogelj
Academic achievements
Associate professor 2013
Faculty of Pharmacy, University of Ljubljana, Slovenia
PhD
1999
Interfaculty MSc and PhD Study of Biochemistry and Molecular Biology, University of Ljubljana,
Slovenia
BSc
1995
Dept. of Biology, Biotechnical Faculty, University of Ljubljana, Slovenia
E m pl o ym e nt hi st or y
Research associate/Group leader
Jan/2012-present
Dept. of Biotechnology, Jožef Stefan Institute, Ljubljana, Slovenia
Head of research
Jan/2012-present
Biomedical Research Institute BRIS, Ljubljana, Slovenia
Senior research associate
Oct/2007-Dec/2011
Department of Clinical Neuroscience, MRC Centre for Neurodegeneration Research, Institute of
Psychiatry, King’s College London, London, UK
Senior postdoctoral researcher
Oct/2003-Sep/2007
Department of Neuroscience, MRC Centre for Neurodegeneration Research, Institute of Psychiatry,
King’s College London, London, UK
Postdoctoral research fellow
Sep/2000-Aug/2003
Dept. of Anatomy and Developmental Biology and Wolfson Institute for Biomedical Research,
UniversityCollegeLondon, London, UK
Postdoctoral scientist
Nov/1999-Sep/2000
Dept. of Biochemistry and Mol. Biology, Jozef Stefan Institute, Ljubljana, Slovenia
Junior researcher
Nov/1995-Nov/1999
Dept. of Biochemistry and Mol. Biology, Jozef Stefan Institute, Ljubljana, Sloveniaand Centre for Plant
Breeding and Reproduction Research (CPRO-DLO), Wageningen, The Netherlands
During the last two years of my PhD I was a visiting junior researcher in CPRO-DLO.
Professional achievements
Proteins TDP-43 and FUS are major contributing factors in amyotrophic lateral sclerosis (ALS) and
frontotemporal dementia (FTD). We identified neighbouring mutations in a highly conserved region of
TDP-43 and FUS in sporadic and familial ALS cases. Furthermore we have observed changes in degradation
and location of both proteins in temporal lobe tissues in post-mortem tissues of patients with FTD. They are
both predominantly nuclear proteins that are implicated in processing and transport of RNA. We have also
characterized their RNA-binding properties as well as shown disease relevance of their nuclear transport.
We discovered that p62 is a major marker for ALS/FTLD associated with newly discovered hexanucleotide
repeat mutation in C9orf72 gene and shown that the hexanucleotide repeat RNA sequesters hnRNPH in
neurons. In addition, we have neuropathologically characterised optineurin in the context of ALS and FTLD
and in a global analysis of alternative splicing changes in aging and neurodegeneration we discovered some
correlations between the two processes.
Department of Biotechnology, Jozef Stefan Institute, Jamova 39, 1000 Ljubljana, Slovenia
Phone: +386-1-477-3611
Email: boris.rogelj@ijs.si
Teaching experience
Lecturing
 Lectures in Human Molecular Genetics at MSc Biochemistry course (2013-present), University of
Ljubljana, Slovenia.
 Lectures to students at MSc Neuroscience and MSc Clinical Neuroscience course (2008-2011).Institute
of Psychiatry, King’s College London
 Visiting lectures on Proteomics to the undergraduate students at the Faculty of Pharmacy and postgraduate students ofFaculty of Biotechnology (2001-2005), University of Ljubljana, Slovenia.
 Host presenter during annual Alzheimer’s Open Day and lay and student group visits. Institute of
Psychiatry, King’s College London.
Supervison
 Current PhD supervisor of three students.Jozef Stefan Institute, Ljubljana, Slovenia.
 MSc supervisor of three students.Institute of Psychiatry, King’s College London, UK.
 MSc co-supervisor of one student.University College London, UK.
 BSc co-supervisor of two students.
Management experience
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Management of fiveresearch and three PhD grantsfrom Slovenian Research Agency.
Head of research in BRIS
Board member of SiNAPSa - Slovenian Neuroscience Society
Management of projects in Neurogenetics group, Department of Clinical Neuroscience, Institute of
Psychiatry, King’s College London, London, UK
Grants and Funding
Current as PI:
 Dysregulation of TDP-43 expression in amyotrophic lateral sclerosis and frontotemporal lobar
degeneration. Slovenian Research Agency; 2013-2016
 Pathogenic mechanism of the C9orf72 expanded hexanucleotide repeat mutation in neurodegeneration.
Slovenian Research Agency; 2014-2017
 PhD studentship: Slovenian Research Agency; 2014-2018
 PhD studentship: Slovenian Research Agency; 2012-2016
Publications
Note: *first or shared first authorship; + last or shared last authorship
1. +Štalekar M, Yin X, Rebolj K, Darovic S, Troakes C, Mayr M, Shaw CE, Rogelj B, 2015,Proteomic
analyses reveal that loss of TDP-43 affects RNA processing and intracellular transport.Neuroscience,
293:157-70.
2. Vrabec K, Koritnik B, Leonardis L, Dolenc Grošelj L, Zidar J, Smith B, Vance C, Shaw CE,Rogelj B,
Glavač D, Ravnik-Glavač M, 2015,Genetic analysis of amyotrophic lateral sclerosis in the Slovenian
population.Neurobiology of aging, 36:1601
3. +Šket P, Pohleven J, Kovanda A, Štalekar M, Župunski V, Zalar M, Plavec J, Rogelj B, 2015,
Characterization of DNA G-quadruplex species forming from C9ORF72 G4C2 expanded repeats
associated with amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Neurobiology of
aging, 36:1091-6
4. Lee YB, Rogelj B, Shaw CE, 2014, A serum microRNA signature for amyotrophic lateral sclerosis
reveals convergent RNA processing defects and identifies presymptomatic mutation carriers.Brain,
137:2875-6.
5. +Bratkovič T, Rogelj B, 2014,The many faces of small nucleolar RNAs. BBA - Gene Regulatory
Mechanisms, 1839:438-43.
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6. +Vatovec S, Kovanda A, Rogelj B, 2014,Unconventional features of C9ORF72 expanded repeat in
amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Neurobiology of Ageing,
35:2421.e1-2421.e12.
7. +Kovanda A, Režen T, Rogelj B, 2014,MicroRNA in skeletal muscle development, growth, atrophy
and disease. WIREs RNA, 5:509-25.
8. Nishimura AL, Shum C, Scotter EL, Abdelgany A, Sardone V, Wright J, Lee YB, Chen HJ, Bilican B,
Carrasco M, Maniatis T, Chandran S, Rogelj B, Gallo JM, Shaw CE, 2014,Allele-specific knockdown
of ALS-associated mutant TDP-43 in neural stem cells derived from induced pluripotent stem cells
PLOS One, 9:e91269.
9. Scotter EL, Vance C, Nishimura AL, Lee YB, Chen HJ, Urwin H, Sardone V, Mitchell JC, Rogelj B,
Rubinsztein DC, Shaw CE, 2014, Differential roles of the ubiquitin proteasome system (UPS) and
autophagy in the clearance of soluble and aggregated TDP-43 species. Journal of Cell
Science,127:1263-78.
10. +Režen T, Kovanda A, Eiken O, Mekjavic IB, Rogelj B. 2014, Expression changes in human skeletal
muscle miRNAs following 10 days of bed rest in young healthy males. Acta Physiologica
(Oxf),210:655-666.
11. Lee YB, Chen HJ, Peres JN, Gomez-Deza J, Attig J, Stalekar M, Troakes C, Nishimura AL, Scotter
EL, Vance C, Adachi Y, Sardone V, Miller JW, Smith BN, Gallo JM, Ule J, Hirth F, Rogelj B, Houart
C, Shaw CE. 2013, Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester
RNA binding proteins, and are neurotoxic. Cell Reports,5:1178-1186.
12. +Vance C, Scotter EL, Nishimura AL, Troakes C, Mitchell JC, Kathe C, Urwin H, Manser C, Miller
CC, Hortobágyi T, Dragunow M, Rogelj B, Shaw CE. 2013,ALS mutant FUS disrupts nuclear
localization and sequesters wild-type FUS within cytoplasmic stress granules.Human Molecular
Genetics,22:2676-2688.
13. Mitchell JC, McGoldrick P, Vance C, Hortobagyi T, Sreedharan J, Rogelj B,Tudor EL, Smith BN,
Klasen C, Miller CC, Cooper JD, Greensmith L, Shaw CE. 2013,Overexpression of human wild-type
FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion. Acta
Neuropathologica,125:273-288.
14. +Troakes C, Hortobágyi T, Vance C, Al-Sarraj S, Rogelj B, Shaw CE. 2013, Transportin 1 colocalisation with FUS inclusions is not characteristic for ALS-FUS confirming disrupted nuclear
import of mutant FUS and distinguishing it from FTLD-FUS. Neuropathology and Applied
Neurobiology,39:553-561.
15. Smith BN, Newhouse S, Shatunov A, Vance C, Topp S, Johnson L, Miller J, Lee Y, Troakes C, Scott
KM, Jones A, Gray I, Wright J, Hortobágyi T, Al-Sarraj S, Rogelj B, Powell J, Lupton M, Lovestone
S, Sapp PC, Weber M, Nestor PJ, Schelhaas HJ, Asbroek AA, Silani V, Gellera C, Taroni F, Ticozzi
N, Van den Berg L, Veldink J, Van Damme P, Robberecht W, Shaw PJ, Kirby J, Pall H, Morrison KE,
Morris A, de Belleroche J, Vianney de Jong JM, Baas F, Andersen PM, Landers J, Brown RH Jr,
Weale ME, Al-Chalabi A, Shaw CE, 2013, The C9ORF72 expansion mutation is a common cause of
ALS+/-FTD in Europe and has a single founder. European Journal of Human Genetics, 21:102-108.
16. *Rogelj B, Easton LE, Bogu GK, Stanton LW, Rot G, Curk T, Zupan B, Sugimoto Y, Modic M,
Haberman N, Tollervey J, Fujii R, Takumi T, Shaw CE, Ule J. 2012, Widespread binding of FUS
along nascent RNA regulates alternative splicing in the brain. Scientific Reports, 2:603.
17. Troakes C, Maekawa S, Wijesekera L, Rogelj B, Siklós L, Bell C, Smith B, Newhouse S, Vance C,
Johnson L, Hortobágyi T, Shatunov A, Al-Chalabi A, Leigh N, Shaw CE, King A and Al-Sarraj S,
2012, MND/ALS with excess p62 pathology - a TDP-43 proteinopathy subtype exhibiting distinctive
shared pathology yet genetic variability. Neuropathology, 32:505-514.
18. +Bratkovic T, Glavan G, Strukelj B, Zivin M and Rogelj B, 2012, Exploiting microRNAs for cell
engineering and therapy.Biotechnology Advances, 30:753-765.
19. Al-Sarraj S, King A, Troakes C, Smith B, Makawa S, Bodi I, Rogelj B, Al-Chalabi A, Hortobagyi T
and Shaw CE, 2011, 62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions
in the cerebellum and hippocampus define the pathology of C9orf72 linked FTLD and ALS, Acta
Neuropathologica, 122:691-702.
20. +Bratkovic T and Rogelj B, 2011, Biology and applications of small nucleolar RNAs. Cellular and
Molecular Life Sciences, 68:3843-3851.
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21. Tollervey JR, Wang Z, Hortobágyi T, Witten JT, Zarnack K, Kayikci M, Clark TA, Schweitzer AC,
Rot G, Curk T, Zupan B, Rogelj B, Shaw CE andUle J, 2011, Analysis of alternative splicing
associated with aging and neurodegeneration in the human brain. Genome Biology, 21:1572-1582.
22. *Tollervey JR, Curk T, Rogelj B, Briese M, Cereda M, Kayikci M, König J,Hortobágyi T, Nishimura
AL, Zupunski V, Patani R, Chandran S, Rot G, Zupan B,Shaw CE and Ule J, 2011, Characterizing the
RNA targets and position-dependent splicingregulation by TDP-43. Nature Neuroscience,14:452-458.
23. Hortobágyi T, Troakes C, Nishimura AL, Vance C, van Swieten JC, Seelaar H,King A, Al-Sarraj S,
Rogelj B and Shaw CE,2011, Optineurin inclusions occur in a minorityof TDP-43 positive ALS and
FTLD-TDP cases and are rarely observed in otherneurodegenerative disorders. Acta
Neuropathologica,121:519-527.
24. +Nishimura AL,Župunski V, Troakes C, Kathe C, Fratta P, Howell M, Gallo J-M, Hortobágyi T, Shaw
CE and Rogelj B, 2010, Nuclear import impairment causes cytoplasmic TDP-43 accumulation and is
associated with frontotemporal lobar degeneration, Brain, 133:1763-1771.
25. Mitchell JC, Perkinton MS, Yates DM, Lau KF, Rogelj B, Miller CC and McLoughlin DM, 2010,
Expression of the neuronal adaptor protein X11α protects against memory dysfunction in a transgenic
mouse model of Alzheimer’s disease.Journal of Alzheimer’s disease, 20:31-36.
26. Mitchell JC, Ariff BB, Yates DM, Lau KF, Perkinton MS,Rogelj B, Stephenson JD, Miller
CCandMcLoughlin DM, 2009, X11β rescues memory and long-term potentiation deficits in
Alzheimer's disease APPswe Tg2576 mice.Human Molecular Genetics, 18, 4492-4500.
27. *Vance C,Rogelj B, Hortobagyi T, De Vos KJ, Sreedharan J, Hu X, Wright P, Nishimura AL,
Ganesalingam J, Tripathi V, Smith B, Ruddy D, Al-Saraj S, Al-Chalabi A, Leigh PN, Blair IP,
Nicholson G, de Belleroche J, Gallo J-M, Miller CC and Shaw CE. Mutations in FUS, an RNA
processing protein, cause familial amyotrophic lateral sclerosis type 6.Science, 323:1208-1211.
28. Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, Ackerley S, Buratti E, Baralle F,
Durnall JC, Williams KL, de Belleroche J, Mitchell JD, Leigh PN, Miller CC, Al-Chalabi A,
Nicholson G, and Shaw CE, 2008, TDP-43 mutations in Familial and Sporadic Amyotrophic Lateral
Sclerosis. Science,319:1668-1672.
29. Miller CCJ, McLoughlin DM, Lau KF, Tennant ME andRogelj B, 2006, The X11 proteins, Aβ
production and Alzheimer’s disease. Trends in Neurosciences, 29:280-285.
30. *Rogelj B, 2006, Brain Specific Small Nucleolar RNAs. Journal of Molecular Neuroscience, 28:103110.
31. *Rogelj B, Mitchell JC, Miller CCJ and McLoughlin DM, 2006, X11 family of adaptor proteins.Brain
Research Reviews, 52:305-315.
32. Sabotic J, Gaser D, Rogelj B, Gruden K, Strukelj B and Brzin J, 2006, Heterogeneity of the cysteine
protease inhibitor Clitocypin gene family. Biological Chemistry, 387:1559-1566.
33. Anzlovar S, Gruden K, Rogelj B, Strukelj B and Dermastia B, 2006, Linusitin-like protein from flax is
encoded by an intronless gene. International Journal of Plant Sciences,167:231-238.
34. Lee JH, Lau KF, Perkinton MS, Standen CL, Rogelj B, Falinska A, McLoughlin DM and Miller CC,
2004, The neuronal adaptor protein X11beta reduces Abeta levels and amyloid plaque formation in
the brains of transgenic mice. Journal of Biological Chemistry,279:49099-49104.
35. *Rogelj B andGiese KP, 2004, Brain specific small non-messenger RNAs. Reviews in the
Neurosciences,15:185-198.
36. *Rogelj B, Hartmann CE, Hunt SP, Yeo CH and Giese KP, 2003, Contextual fear conditioning regulates
the expression of brain-specific small nucleolar RNAs in hippocampus. European Journal of
Neuroscience,18:3089-3096.
37. *Outchkourov NS, Rogelj B, Strukelj B and Jongsma MA, 2003, Expression of sea anemone equistatin
in potato: effects of plant proteases on heterologous protein production. Plant Physiology,133:379-390.
38. *Brzin J, Rogelj B,Popovic T, Ritonja A and Strukelj B, 2000, Isolation, characterisation and primary
structure of clitocypin, a new inhibitor of cysteine proteinases from Clitocybe nebularis fruiting
bodies. Journal of Biological Chemistry,275:20104-20109.
39. *Rogelj B, Strukelj B, Bosch D and Jongsma MA, 2000, Expression and purification of equistatin in
Pichia pastoris. Protein expression and purification,19:329-334.
40. Strukelj B, Lenarcic B, Gruden K, Pungercar J, Rogelj B, Turk V, Bosch D and Jongsma MA, 2000,
Equistatin, a protease inhibitor from the sea anemone Actinia equina, is composed of three structural
and functional domains. Biochemical and Biophysical Research Communications, 269:732-736.
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41. *Rogelj B, Popovic T, Ritonja A, Strukelj B and Brzin J, 1998, Chelidocystatin, a novel phytocystatin
from Chelidonium majus. Phytochemistry, 49:1645-1649.
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