Neurofilament Light Regulates Axon Caliber, Synaptic Activity, and Organelle Trafficking in Cultured Human Motor Neurons

Autor: Markus T. Sainio, Tiina Rasila, Svetlana M. Molchanova, Julius Järvilehto, Rubén Torregrosa-Muñumer, Sandra Harjuhaahto, Jana Pennonen, Nadine Huber, Sanna-Kaisa Herukka, Annakaisa Haapasalo, Henrik Zetterberg, Tomi Taira, Johanna Palmio, Emil Ylikallio, Henna Tyynismaa

Publikováno v: Frontiers in Cell and Developmental Biology, Vol 9 (2022)

Neurofilament light (NFL) is one of the proteins forming multimeric neuron-specific intermediate filaments, neurofilaments, which fill the axonal cytoplasm, establish caliber growth, and provide structural support. Dominant missense mutations and rec

Externí odkaz: https://doaj.org/article/f4541e595e534acebc0b20319f10d18f

Alpha2-Containing Glycine Receptors Promote Neonatal Spontaneous Activity of Striatal Medium Spiny Neurons and Support Maturation of Glutamatergic Inputs

Autor: Joris Comhair, Jens Devoght, Giovanni Morelli, Robert J. Harvey, Victor Briz, Sarah C. Borrie, Claudia Bagni, Jean-Michel Rigo, Serge N. Schiffmann, David Gall, Bert Brône, Svetlana M. Molchanova

Publikováno v: Frontiers in Molecular Neuroscience, Vol 11 (2018)

Glycine receptors (GlyRs) containing the α2 subunit are highly expressed in the developing brain, where they regulate neuronal migration and maturation, promote spontaneous network activity and subsequent development of synaptic connections. Mutatio

Externí odkaz: https://doaj.org/article/6a481c3cf15044ce8b124772c85503d4

Dominant mutations in ITPR3 cause Charcot‐Marie‐Tooth disease

Autor: Svetlana M. Molchanova, Elaine M. Pereira, Jussi Toppila, Anders Paetau, Anya Revah-Politi, Julius Rönkkö, Adrian Liston, Claudio Rivera, Mari Auranen, Anastasia Ludwig, Emil Ylikallio, Matthew B. Harms, Julika Neumann, Stephanie Humblet-Baron, Jouni Kvist, Henna Tyynismaa, Geert Bultynck

Publikováno v: Annals of Clinical and Translational Neurology, Vol 7, Iss 10, Pp 1962-1972 (2020)
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Wiley, 2020, 7 (10), pp.1962-1972. ⟨10.1002/acn3.51190⟩

OBJECTIVE: ITPR3, encoding inositol 1,4,5-trisphosphate receptor type 3, was previously reported as a potential candidate disease gene for Charcot-Marie-Tooth neuropathy. Here, we present genetic and functional evidence that ITPR3 is a Charcot-Marie-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f00a893b884689ff0feec6cc0abb3ab1
https://doaj.org/article/b677654436f5422098c6dce97f6fade5

LATE BREAKING NEWS E-POSTER PRESENTATION

Autor: Claudio Rivera, Henna Tyynismaa, Emil Ylikallio, Adrian Liston, Julius Rönkkö, Matthew B. Harms, Anastasia Ludwig, Svetlana M. Molchanova, Stephanie Humblet-Baron, Elaine M. Pereira, Anya Revah-Politi, Geert Bultynck, Julika Neumann, Jouni Kvist, Mari Auranen, Jussi Toppila, Anders Patau

Publikováno v: Neuromuscular Disorders
Neuromuscular Disorders, Elsevier, 2020, 30, pp.S167-S168. ⟨10.1016/j.nmd.2020.09.011⟩

International audience

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b89bc9afefdc2a09cc345e54a44ec9e
https://hal-amu.archives-ouvertes.fr/hal-03269479

Chchd10 or Chchd2 are not Required for Human Motor Neuron Differentiation In Vitro but Modify Synaptic Transcriptomes

Autor: Sandra Harjuhaahto, Henna Tyynismaa, Jana Pennonen, Tomi Taira, Hazem Ibrahim, Markus T. Sainio, Svetlana M. Molchanova, Emil Ylikallio, Tiina S Rasila, Jouni Kvist, Timo Otonkoski, Svetlana Konovalova, Rosa Woldegebriel

Mitochondrial intermembrane space proteins CHCHD2 and CHCHD10 have roles in diseases affecting motor neurons such as amyotrophic lateral sclerosis, spinal muscular atrophy and axonal neuropathy and in Parkinson’s disease, and form a complex of unkn

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb243d187a42916be1085a7bf5882bf1