Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Sorana Ciura"'
Autor:
Hortense de Calbiac, Sebastian Montealegre, Marjolène Straube, Solène Renault, Hugo Debruge, Loïc Chentout, Sorana Ciura, Apolline Imbard, Edouard Le Guillou, Anca Marian, Nicolas Goudin, Laure Caccavelli, Sylvie Fabrega, Arnaud Hubas, Peter van Endert, Nicolas Dupont, Julien Diana, Edor Kabashi, Pascale de Lonlay
Publikováno v:
Autophagy Reports, Vol 3, Iss 1 (2024)
ABSTRACTPatients with pathogenic variants in the TANGO2 gene suffer from severe and recurrent rhabdomyolysis episodes precipitated by fasting. Autophagy functioning was analyzed in vitro, in primary skeletal myoblasts from TANGO2 patients, in basal a
Externí odkaz:
https://doaj.org/article/4aa5bc2b72924f759db819530d580f6e
Autor:
Badih Salman, Emeline Bon, Perrine Delers, Steve Cottin, Elena Pasho, Sorana Ciura, Delphine Sapaly, Suzie Lefebvre
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 18, p 10039 (2024)
Dysregulated RNA metabolism caused by SMN deficiency leads to motor neuron disease spinal muscular atrophy (SMA). Current therapies improve patient outcomes but achieve no definite cure, prompting renewed efforts to better understand disease mechanis
Externí odkaz:
https://doaj.org/article/76667a9dec574c4f8c6d478057aaa998
Autor:
Alexandre Brenet, Julie Somkhit, Zsolt Csaba, Sorana Ciura, Edor Kabashi, Constantin Yanicostas, Nadia Soussi-Yanicostas
Publikováno v:
Cells, Vol 13, Iss 8, p 684 (2024)
It has been known for a long time that epileptic seizures provoke brain neuroinflammation involving the activation of microglial cells. However, the role of these cells in this disease context and the consequences of their inflammatory activation on
Externí odkaz:
https://doaj.org/article/9c0ca90eb669439d8894bf413a7e28e3
Autor:
Christel Depienne, Sorana Ciura, Oriane Trouillard, Delphine Bouteiller, Elsa Leitã;o, Caroline Nava, Boris Keren, Yannick Marie, Justine Guegan, Sylvie Forlani, Alexis Brice, Mathieu Anheim, Yves Agid, Paul Krack, Philippe Damier, François Viallet, Jean-Luc Houeto, Franck Durif, Marie Vidailhet, Yulia Worbe, Emmanuel Roze, Edor Kabashi, Andreas Hartmann
Publikováno v:
Tremor and Other Hyperkinetic Movements, Vol 9, Iss 0, Pp 1-9 (2019)
Background: Genes involved in Tourette syndrome (TS) remain largely unknown. We aimed to identify genetic factors contributing to TS in a French cohort of 120 individuals using a combination of hypothesis-driven and exome-sequencing approaches. Metho
Externí odkaz:
https://doaj.org/article/e842c99a3bf4474e9232b3335a4c7a75
Autor:
Sorana Ciura, Masha Prager-Khoutorsky, Zahra S. Thirouin, Joshua C. Wyrosdic, James E. Olson, Wolfgang Liedtke, Charles W. Bourque
Publikováno v:
Cell Reports, Vol 23, Iss 8, Pp 2245-2253 (2018)
Summary: The maintenance of hydromineral homeostasis requires bidirectional detection of changes in extracellular fluid osmolality by primary osmosensory neurons (ONs) in the organum vasculosum laminae terminalis (OVLT). Hypertonicity excites ONs in
Externí odkaz:
https://doaj.org/article/31e4f6f7ff2c44a083206c32eddcfd93
Publikováno v:
Cells, Vol 10, Iss 2, p 221 (2021)
The “distal axonopathy” hypothesis in amyotrophic lateral sclerosis (ALS) proposes that pathological changes occur at the neuromuscular junction (NMJ) early in the disease. While acetylcholinesterase (AChE) plays an important role in the function
Externí odkaz:
https://doaj.org/article/70be78d46b094c7e80ba82358d5f612c
Autor:
Cristian Zaelzer, Pierce Hua, Masha Prager-Khoutorsky, Sorana Ciura, Daniel L. Voisin, Wolfgang Liedtke, Charles W. Bourque
Publikováno v:
Cell Reports, Vol 13, Iss 1, Pp 23-30 (2015)
Thirst and antidiuretic hormone secretion occur during hyperthermia or hypertonicity to preserve body hydration. These vital responses are triggered when hypothalamic osmoregulatory neurons become depolarized by ion channels encoded by an unknown pro
Externí odkaz:
https://doaj.org/article/95a758eb76a341bd98580b803652e5ba
Autor:
Alexandra Vaccaro, Shunmoogum A Patten, Sorana Ciura, Claudia Maios, Martine Therrien, Pierre Drapeau, Edor Kabashi, J Alex Parker
Publikováno v:
PLoS ONE, Vol 7, Iss 7, p e42117 (2012)
The DNA/RNA-binding proteins TDP-43 and FUS are found in protein aggregates in a growing number of neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS) and related dementia, but little is known about the neurotoxic mechanisms. We
Externí odkaz:
https://doaj.org/article/e4b8648f7d3a4e61846ae8092628a8bc
Autor:
Sebastian Montealegre, Hortense de Calbiac, Marjolène Straube, Hugo Debruge, Loïc Chentout, Sorana Ciura, Apolline Imbard, Edouard Le Guillou, Anca Marian, Nicolas Goudin, Laure Caccavelli, Sylvie Fabrega, Arnaud Hubas, Peter van Endert, Nicolas Dupont, Julien Diana, Edor Kabashi, Pascale de Lonlay
Patients with pathogenic variants in the TANGO2 gene suffer from severe and recurrent rhabdomyolysis (RM) episodes precipitated by fasting. Since starvation promotes autophagy induction, we wondered whether TANGO2-related muscle symptoms result from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9b85aa610c7b910abc075743a26acc60
https://doi.org/10.1101/2023.03.29.534583
https://doi.org/10.1101/2023.03.29.534583
Publikováno v:
Journal of Visualized Experiments.
Epilepsy represents one of the most common neurological disorders, affecting an estimated 50 million people worldwide. Recent advances in genetic research have uncovered a large spectrum of genes implicated in various forms of epilepsy, highlighting
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16af76f0787e1660ccce10fd69561365
https://doi.org/10.3791/58837
https://doi.org/10.3791/58837