Cellular alterations identified in pluripotent stem cell-derived midbrain spheroids generated from a female patient with progressive external ophthalmoplegia and parkinsonism who carries a novel variation (p.Q811R) in the POLG1 gene

Autor: Margarita Chumarina, Kaspar Russ, Carla Azevedo, Andreas Heuer, Maria Pihl, Anna Collin, Eleonor Åsander Frostner, Eskil Elmer, Poul Hyttel, Graziella Cappelletti, Michela Zini, Stefano Goldwurm, Laurent Roybon

Publikováno v: Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-19 (2019)

Abstract Variations in the POLG1 gene encoding the catalytic subunit of the mitochondrial DNA polymerase gamma, have recently been associated with Parkinson’s disease (PD), especially in patients diagnosed with progressive external ophthalmoplegia

Externí odkaz: https://doaj.org/article/1343bcfaa6ed494a9109320971a3aae9

Generation of a human induced pluripotent stem cell line (CSC-42) from a patient with sporadic form of Parkinson's disease

Autor: Ekaterina Savchenko, Ana Marote, Kaspar Russ, Anna Collin, Stefano Goldwurm, Laurent Roybon, Yuriy Pomeshchik

Publikováno v: Stem Cell Research, Vol 27, Iss , Pp 78-81 (2018)

Skin fibroblasts were collected from a 44-year-old patient with sporadic case of Parkinson's disease (PD). The non-integrating Sendai virus vector encoding OCT3/4, SOX2, c-MYC and KLF4 was used to reprogram fibroblasts into induced pluripotent stem c

Externí odkaz: https://doaj.org/article/4221f0ddd07a41e883ade90cf7152eb0

Generation of an induced pluripotent stem cell line (CSC-46) from a patient with Parkinson's disease carrying a novel p.R301C mutation in the GBA gene

Autor: Nadja Gustavsson, Ana Marote, Yuriy Pomeshchik, Kaspar Russ, Carla Azevedo, Margarita Chumarina, Stefano Goldwurm, Anna Collin, Luisa Pinto, António J. Salgado, Oxana Klementieva, Laurent Roybon, Ekaterina Savchenko

Publikováno v: Stem Cell Research, Vol 34, Iss , Pp - (2019)

Mutations in the glucocerebrosidase (GBA) gene have been associated with the development of Parkinson's disease (PD). An induced pluripotent stem cell (iPSC) line was generated from a 60-year old patient diagnosed with PD and carrying a new mutation

Externí odkaz: https://doaj.org/article/ca7e3c96796647ecb91685b9845b1e55

Human iPSC-Derived Hippocampal Spheroids: An Innovative Tool for Stratifying Alzheimer Disease Patient-Specific Cellular Phenotypes and Developing Therapies

Autor: Yuriy Pomeshchik, Oxana Klementieva, Jeovanis Gil, Isak Martinsson, Marita Grønning Hansen, Tessa de Vries, Anna Sancho-Balsells, Kaspar Russ, Ekaterina Savchenko, Anna Collin, Ana Rita Vaz, Silvia Bagnoli, Benedetta Nacmias, Claire Rampon, Sandro Sorbi, Dora Brites, György Marko-Varga, Zaal Kokaia, Melinda Rezeli, Gunnar K. Gouras, Laurent Roybon

Publikováno v: Stem Cell Reports
Stem Cell Reports, 2020, 15, pp.256-273. ⟨10.1016/j.stemcr.2020.06.001⟩
Stem Cell Reports, Elsevier, 2020, 15, pp.256-273. ⟨10.1016/j.stemcr.2020.06.001⟩

Summary The hippocampus is important for memory formation and is severely affected in the brain with Alzheimer disease (AD). Our understanding of early pathogenic processes occurring in hippocampi in AD is limited due to tissue unavailability. Here,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ae501c26d2639ec638a34e56e99e00a
http://europepmc.org/articles/PMC7363942

FGF family members differentially regulate maturation and proliferation of stem cell-derived astrocytes

Autor: Hynek Wichterle, Christopher E. Henderson, Tomas Deierborg, Mauno Vihinen, Kaspar Russ, Ekaterina Savchenko, Nuno Jorge Lamas, Antonio Boza-Serrano, Gabriel N. Teku, Jeffrey D. Rothstein, Manon Berns, Laurent Roybon

Publikováno v: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Scientific Reports, Vol 9, Iss 1, Pp 1-13 (2019)
Scientific Reports

The glutamate transporter 1 (GLT1) is upregulated during astrocyte development and maturation in vivo and is vital for astrocyte function. Yet it is expressed at low levels by most cultured astrocytes. We previously showed that maturation of human an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd5fb161ddb45c7c85d800f66928d70a
https://doi.org/10.1038/s41598-019-46110-1