Department of Molecular Neurobiology

Prof. Maciej Figiel

Head of Department

mfigiel@ibch.poznan.pl
ext. 1150

New mechanisms of neurodegeneration in poliq model diseases.
Characterization of SCA3/MJD KI91 knock-in mouse model.
Identification of changes in the level of mRNA and proteins, and modifications (phosphoproteins, ubiquitinated proteins) in different stages of diseases development in the KI91 model.
Behavioral characterization of the KI91 mice.
Identyfication of new molecular therapeutic targets in poliQ diseases.
Therapy of polyQ diseases.
Generation of iPSC models of neurodegenerativ diseases.
Neurodegenerative disease = neurodevelopmental disease. The study of the pathogenesis
of neurodegenerativ disease on the development axis: stem cells - neuronal stem cells - mature neuronal cells.
Identyfication and validation of RNA species with altered expression level in human Huntington disease iPSC.

Allele selective, CAG-targeted RNAi-based strategy to lower mutant polyQ proteins in polyglutamine ataxias; National Ataxia Foundation; Minneapolis, MN, USA; 688790; Pioneer SCA3/MJD Translational Research Award; Maciej Figiel and Yvon Trottier
Discovering disorders of brain development in Huntington disease as a consequence of possible total huntingtin deficiency in HD, using juvenile HD iPSC and fused brain organoids; National Science Center, Grant number: 2018/31/B/NZ3/03621
Allele-specific lowering of mutant polyQ proteins as treatment for Huntington disease, spinocerebellar ataxia type 3 and spinocerebellar ataxia type 7; National Centre for Research and Development; Grant number: ERA-NET-E-RARE-3/III/TreatPolyQ/08/2018
Gene Therapy for Cerebellar Ataxias: restoring cholesterol metabolism by targeting brain cholesterol 24 hydroxylase (CYP46A1); National Centre for Research and Development; Grant number: ERA-NET-E-RARE-3/III/SCA-CYP/09/2018
Defining new mechanisms of neurodegeneration using the first model of a knock-in SCA3 / MJD; National Science Center (Krakow); Grant number: 2013/10/E/NZ4/00621

Szlachcic WJ, Wiatr K, Trzeciak M, Figlerowicz M, Figiel M.The Generation of Mouse and Human Huntington Disease iPS Cells Suitable for In vitro Studies on Huntingtin Function. Front Mol Neurosci. 10:253 (2017)
Wiatr K, Szlachcic WJ, Trzeciak M, Figlerowicz M, Figiel M.Huntington disease as neurodevelopmental disorder and early phenotypes of the disease in stem cells.Mol Neurobiol. 2017; May 11. doi: 10.1007/s12035-017-0477-7.
Szlachcic WJ, Switonski PM, Kurkowiak M, Wiatr K, Figiel M.Mouse polyQ database: a new online resource for research using mouse models of neurodegenerative diseases. Mol Brain. 8(1):69 (2015)
Szlachcic WJ, Switonski PM, Krzyzosiak WJ, Figlerowicz M, Figiel M. Huntington disease iPSCs show early molecular changes in intracellular signaling, the expression of oxidative stress proteins and the p53 pathway. Dis Model Mech. 8(9):1047-57 (2015)
Switonski PM, Szlachcic WJ, Krzyzosiak WJ, Figiel M.A new humanized ataxin-3 knock-in mouse model combines the genetic features, pathogenesis of neurons and glia and late disease onset of SCA3/MJD. Neurobiol Dis.73:174-88 (2015)
Figiel M, Krzyzosiak WJ, Switonski PM, Szlachcic WJ. Chapter 64: Mouse Models of SCA3 and Other Polyglutamine Repeat Ataxias.In Movement Disorders, Second Edition. Ed. LeDoux M. ISBN: 9780124051959 DOI: 10.1016/B978-0-12-405195-9.00064-0 (2015)