Metabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial Disease
Ward, Jacqueline M., Stoyas, Colleen A., Switonski, Pawel M., Ichou, Farid, Fan, Weiwei, Collins, Brett, Wall, Christopher E., Adanyeguh, Isaac, Niu, Chenchen, Sopher, Bryce L., Kinoshita, Chizuru, Morrison, Richard S., Durr, Alexandra, Muotri, Alysson R., Evans, Ronald M., Mochel, Fanny, La Spada, Albert R.
Published in Cell reports (Cambridge) (29.01.2019)
Published in Cell reports (Cambridge) (29.01.2019)
Get full text
Journal Article
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
Switonski, Pawel M, Szlachcic, Wojciech J, Krzyzosiak, Wlodzimierz J, Figiel, Maciej
Published in Neurobiology of disease (2015)
Published in Neurobiology of disease (2015)
Get full text
Journal Article
Huntington disease iPSCs show early molecular changes in intracellular signaling, the expression of oxidative stress proteins and the p53 pathway
Szlachcic, Wojciech J, Switonski, Pawel M, Krzyzosiak, Wlodzimierz J, Figlerowicz, Marek, Figiel, Maciej
Published in Disease models & mechanisms (01.09.2015)
Published in Disease models & mechanisms (01.09.2015)
Get full text
Journal Article
Respiratory dysfunction in a mouse model of spinocerebellar ataxia type 7
Fusco, Anna F, Pucci, Logan A, Switonski, Pawel M, Biswas, Debolina D, McCall, Angela L, Kahn, Amanda F, Dhindsa, Justin S, Strickland, Laura M, La Spada, Albert R, ElMallah, Mai K
Published in Disease models & mechanisms (01.07.2021)
Published in Disease models & mechanisms (01.07.2021)
Get full text
Journal Article
Antibody-assisted selective isolation of Purkinje cell nuclei from mouse cerebellar tissue
Bartelt, Luke C., Fakhri, Mouad, Adamek, Grazyna, Trybus, Magdalena, Samelak-Czajka, Anna, Jackowiak, Paulina, Fiszer, Agnieszka, Lowe, Craig B., La Spada, Albert R., Switonski, Pawel M.
Published in Cell reports methods (15.07.2024)
Published in Cell reports methods (15.07.2024)
Get full text
Journal Article
Nicotinamide Pathway-Dependent Sirt1 Activation Restores Calcium Homeostasis to Achieve Neuroprotection in Spinocerebellar Ataxia Type 7
Stoyas, Colleen A., Bushart, David D., Switonski, Pawel M., Ward, Jacqueline M., Alaghatta, Akshay, Tang, Mi-bo, Niu, Chenchen, Wadhwa, Mandheer, Huang, Haoran, Savchenko, Alex, Gariani, Karim, Xie, Fang, Delaney, Joseph R., Gaasterland, Terry, Auwerx, Johan, Shakkottai, Vikram G., La Spada, Albert R.
Published in Neuron (Cambridge, Mass.) (19.02.2020)
Published in Neuron (Cambridge, Mass.) (19.02.2020)
Get full text
Journal Article
Modeling simple repeat expansion diseases with iPSC technology
Jaworska, Edyta, Kozlowska, Emilia, Switonski, Pawel M., Krzyzosiak, Wlodzimierz J.
Published in Cellular and molecular life sciences : CMLS (01.11.2016)
Published in Cellular and molecular life sciences : CMLS (01.11.2016)
Get full text
Journal Article
Altered H3 histone acetylation impairs high-fidelity DNA repair to promote cerebellar degeneration in spinocerebellar ataxia type 7
Switonski, Pawel M, Delaney, Joe R, Bartelt, Luke C, Niu, Chenchen, Ramos-Zapatero, Maria, Spann, Nathanael J, Alaghatta, Akshay, Chen, Toby, Griffin, Emily N, Bapat, Jaidev, Sopher, Bryce L, La Spada, Albert R
Published in Cell reports (Cambridge) (30.11.2021)
Published in Cell reports (Cambridge) (30.11.2021)
Get full text
Journal Article
Mouse Models of Polyglutamine Diseases: Review and Data Table. Part I
Figiel, Maciej, Szlachcic, Wojciech J., Switonski, Pawel M., Gabka, Agnieszka, Krzyzosiak, Wlodzimierz J.
Published in Molecular neurobiology (01.10.2012)
Published in Molecular neurobiology (01.10.2012)
Get full text
Journal Article
Mouse Ataxin-3 Functional Knock-Out Model
Switonski, Pawel M., Fiszer, Agnieszka, Kazmierska, Katarzyna, Kurpisz, Maciej, Krzyzosiak, Wlodzimierz J., Figiel, Maciej
Published in Neuromolecular medicine (01.03.2011)
Published in Neuromolecular medicine (01.03.2011)
Get full text
Journal Article
An evaluation of oligonucleotide-based therapeutic strategies for polyQ diseases
Fiszer, Agnieszka, Olejniczak, Marta, Switonski, Pawel M, Wroblewska, Joanna P, Wisniewska-Kruk, Joanna, Mykowska, Agnieszka, Krzyzosiak, Wlodzimierz J
Published in BMC molecular biology (07.03.2012)
Published in BMC molecular biology (07.03.2012)
Get full text
Journal Article
Allele-specific quantitation of ATXN3 and HTT transcripts in polyQ disease models
Joachimiak, Paweł, Ciesiołka, Adam, Kozłowska, Emilia, Świtoński, Paweł M, Figura, Grzegorz, Ciołak, Agata, Adamek, Grażyna, Surdyka, Magdalena, Kalinowska-Pośka, Żaneta, Figiel, Maciej, Caron, Nicholas S, Hayden, Michael R, Fiszer, Agnieszka
Published in BMC biology (01.02.2023)
Published in BMC biology (01.02.2023)
Get full text
Journal Article
Purkinje-Enriched snRNA-seq in SCA7 Cerebellum Reveals Zebrin Identity Loss as a Central Feature of Polyglutamine Ataxias
Bartelt, Luke C, Switonski, Pawel M, Adamek, Grażyna, Carvalho, Juliana, Duvick, Lisa A, Jarrah, Sabrina I, McLoughlin, Hayley S, Scoles, Daniel R, Pulst, Stefan M, Orr, Harry T, Hull, Court, Lowe, Craig B, La Spada, Albert R
Published in bioRxiv (11.05.2023)
Published in bioRxiv (11.05.2023)
Get full text
Journal Article
B03 Novel hd mouse models enabling new pathogenic mechanisms discovery
Wozna-Wysocka, Magdalena, Przybyl, Lukasz, Jazurek-Ciesiolka, Magdalena, Switonski, Pawel M, Suszynska-Zajczyk, Joanna, Sobieszczanska, Paula, Wronka, Dorota, Misiorek, Julia O, Figura, Grzegorz, Ciesiolka, Adam, Krzyzosiak, Wlodzimierz J, Figiel, Maciej, Fiszer, Agnieszka
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2021)
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2021)
Get full text
Journal Article
Purkinje-Enriched snRNA-seq in SCA7 Cerebellum Reveals Zebrin Identity Loss as a Central Feature of Polyglutamine Ataxias
Bartelt, Luke C, Switonski, Pawel M, Adamek, Grażyna, Carvalho, Juliana, Duvick, Lisa A, Jarrah, Sabrina I, McLoughlin, Hayley S, Scoles, Daniel R, Pulst, Stefan M, Orr, Harry T, Hull, Court, Lowe, Craig B, La Spada, Albert R
Published in bioRxiv : the preprint server for biology (11.05.2023)
Get more information
Published in bioRxiv : the preprint server for biology (11.05.2023)
Journal Article
D02 Precise and allele-specific quantitation of endogenous HTT transcript alleles using droplet-digital PCR
Joachimiak, Paweł, Ciesiołka, Adam, Figura, Grzegorz, Kozłowska, Emilia, Świtonśki, Paweł M, Surdyka, Magdalena, Kalinowska-Pośka, Żaneta, Figiel, Maciej, Caron, Nicholas S, Hayden, Michael R, Fiszer, Agnieszka
Published in Journal of neurology, neurosurgery and psychiatry (12.09.2022)
Published in Journal of neurology, neurosurgery and psychiatry (12.09.2022)
Get full text
Journal Article