Zobrazeno 1 - 10
of 69
pro vyhledávání: '"Kostantin, Dobrenis"'
Autor:
Manon Fortier, Margaux Cauhapé, Suzie Buono, Julien Becker, Alexia Menuet, Julien Branchu, Ivana Ricca, Serena Mero, Karim Dorgham, Khalid-Hamid El Hachimi, Kostantin Dobrenis, Benoit Colsch, Dominic Samaroo, Morgan Devaux, Alexandra Durr, Giovanni Stevanin, Filippo M. Santorelli, Sophie Colombo, Belinda Cowling, Frédéric Darios
Publikováno v:
Neurobiology of Disease, Vol 199, Iss , Pp 106564- (2024)
Biallelic variants in the SPG11 gene account for the most common form of autosomal recessive hereditary spastic paraplegia characterized by motor and cognitive impairment, with currently no therapeutic option. We previously observed in a Spg11 knocko
Externí odkaz:
https://doaj.org/article/dbf32e1bf6a942ce85d9572665e8edf3
Autor:
Richard W.D. Welford, Herve Farine, Michel Steiner, Marco Garzotti, Kostantin Dobrenis, Claudia Sievers, Daniel S. Strasser, Yasmina Amraoui, Peter M.A. Groenen, Roberto Giugliani, Eugen Mengel
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 30, Iss , Pp 100843- (2022)
GM2 and GM1 gangliosidoses are genetic, neurodegenerative lysosomal sphingolipid storage disorders. The earlier the age of onset, the more severe the clinical presentation and progression, with infantile, juvenile and late-onset presentations broadly
Externí odkaz:
https://doaj.org/article/2598cb3f1138405aab2f37467293894f
Autor:
Deep R Sharma, Bokun Cheng, Manoj Kumar Jaiswal, Xusheng Zhang, Ajeet Kumar, Nirzar Parikh, Divya Singh, Hardik Sheth, Merina Varghese, Kostantin Dobrenis, Xiaolei Zhang, Patrick R Hof, Patric K Stanton, Praveen Ballabh
Publikováno v:
Cerebral Cortex. 33:6449-6464
Prematurely born infants are deprived of maternal hormones and cared for in the stressful environment of Neonatal Intensive Care Units (NICUs). They suffer from long-lasting deficits in learning and memory. Here, we show that prematurity and associat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::34f02c3aabe636eeccbc8429f887d9de
https://doi.org/10.1093/cercor/bhac516
https://doi.org/10.1093/cercor/bhac516
Autor:
Maxime Boutry, Julien Branchu, Céline Lustremant, Claire Pujol, Julie Pernelle, Raphaël Matusiak, Alexandre Seyer, Marion Poirel, Emeline Chu-Van, Alexandre Pierga, Kostantin Dobrenis, Jean-Philippe Puech, Catherine Caillaud, Alexandra Durr, Alexis Brice, Benoit Colsch, Fanny Mochel, Khalid Hamid El Hachimi, Giovanni Stevanin, Frédéric Darios
Publikováno v:
Cell Reports, Vol 23, Iss 13, Pp 3813-3826 (2018)
Summary: Lysosome membrane recycling occurs at the end of the autophagic pathway and requires proteins that are mostly encoded by genes mutated in neurodegenerative diseases. However, its implication in neuronal death is still unclear. Here, we show
Externí odkaz:
https://doaj.org/article/358623cb25c54ed8bb5c4530b6f112e8
Autor:
Lauren C. Boudewyn, Jakub Sikora, Ladislav Kuchar, Jana Ledvinova, Yulia Grishchuk, Shirley L. Wang, Kostantin Dobrenis, Steven U. Walkley
Publikováno v:
Neurobiology of Disease, Vol 105, Iss , Pp 257-270 (2017)
Mucolipidosis type IV (MLIV) is a lysosomal storage disease exhibiting progressive intellectual disability, motor impairment, and premature death. There is currently no cure or corrective treatment. The disease results from mutations in the gene enco
Externí odkaz:
https://doaj.org/article/b81389fe9ee8420dbba5ee3f6d52b385
Autor:
Mariko Saito, Gusheng Wu, Maria Hui, Kurt Masiello, Kostantin Dobrenis, Robert W. Ledeen, Mitsuo Saito
Publikováno v:
Journal of Lipid Research, Vol 56, Iss 8, Pp 1434-1448 (2015)
Our previous studies have shown accumulation of GM2 ganglioside during ethanol-induced neurodegeneration in the developing brain, and GM2 elevation has also been reported in other brain injuries and neurodegenerative diseases. Using GM2/GD2 synthase
Externí odkaz:
https://doaj.org/article/547db53b676e481eb8266ffec9b5cbf4
Publikováno v:
Cell Reports, Vol 10, Iss 3, Pp 346-358 (2015)
Polymorphisms that alter serotonin transporter SERT expression and functionality increase the risks for autism and psychiatric traits. Here, we investigate how SERT controls serotonin signaling in developing CNS in mice. SERT is transiently expressed
Externí odkaz:
https://doaj.org/article/201f72aec4014d2c8deb3152363f5b00
Autor:
Cyntia Curcio-Morelli, Florie A. Charles, Matthew C. Micsenyi, Yi Cao, Bhuvarahamurthy Venugopal, Marsha F. Browning, Kostantin Dobrenis, Susan L. Cotman, Steven U. Walkley, Susan A. Slaugenhaupt
Publikováno v:
Neurobiology of Disease, Vol 40, Iss 2, Pp 370-377 (2010)
Mucolipidosis type IV is a neurodegenerative lysosomal disease clinically characterized by psychomotor retardation, visual impairment, and achlorhydria. In this study we report the development of a neuronal cell model generated from cerebrum of Mcoln
Externí odkaz:
https://doaj.org/article/17279a60f4304259b6ca5d676521f56c
Publikováno v:
Cereb Cortex
In mice, terminal differentiation of subpopulations of interneurons occurs in late postnatal stages, paralleling the emergence of the adult cortical architecture. Here, we investigated the effects of altered initial cortical architecture on later int
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ceaec5b9756d4bde0a6464e53b2252bc
https://doi.org/10.1093/cercor/bhz191
https://doi.org/10.1093/cercor/bhz191
Autor:
Sunil Krishna, Damon Klebe, Peter R. Mouton, Bokun Cheng, Patrick R. Hof, Praveen Ballabh, Rachna Vanaparthy, Kostantin Dobrenis, Jana Velíšková, Mahima Tibrewal, Merina Varghese, Deep Sharma
Publikováno v:
Cereb Cortex
Preterm-born children suffer from neurological and behavioral disorders. Herein, we hypothesized that premature birth and non-maternal care of preterm newborns might disrupt neurobehavioral function, hippocampal dendritic arborization, and dendritic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8d18bba839c346ca09df209828ea832
https://doi.org/10.1093/cercor/bhz033
https://doi.org/10.1093/cercor/bhz033