Zobrazeno 1 - 10
of 127
pro vyhledávání: '"Lenore K, Beitel"'
Autor:
Gilles Maussion, Rhalena A. Thomas, Iveta Demirova, Gracia Gu, Eddie Cai, Carol X.-Q. Chen, Narges Abdian, Theodore J. P. Strauss, Sabah Kelaï, Angela Nauleau-Javaudin, Lenore K. Beitel, Nicolas Ramoz, Philip Gorwood, Thomas M. Durcan
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)
Abstract Quantifying changes in DNA and RNA levels is essential in numerous molecular biology protocols. Quantitative real time PCR (qPCR) techniques have evolved to become commonplace, however, data analysis includes many time-consuming and cumberso
Externí odkaz:
https://doaj.org/article/17defee105734b909f001d0a9710fe20
Autor:
Carol X.-Q. Chen, Eric Deneault, Narges Abdian, Zhipeng You, Julien Sirois, Michael Nicouleau, Irina Shlaifer, Lorenza Villegas, Marie-Noëlle Boivin, Lydiane Gaborieau, Jason Karamchandani, Lenore K. Beitel, Edward A. Fon, Thomas M. Durcan
Publikováno v:
Stem Cell Research, Vol 64, Iss , Pp 102919- (2022)
The GBA gene encodes the lysosomal enzyme glucocerebrosidase (GCase), responsible for the hydrolysis of glucocerebroside to glucose and ceramide. Heterozygous GBA mutations have been associated with the development of Parkinson's disease (PD) and dem
Externí odkaz:
https://doaj.org/article/26cc62cf36b54952887416a5c262368f
Autor:
Carol X.-Q. Chen, Zhipeng You, Narges Abdian, Julien Sirois, Irina Shlaifer, Mahdieh Tabatabaei, Marie-Noëlle Boivin, Lydiane Gaborieau, Jason Karamchandani, Lenore K. Beitel, Edward A. Fon, Thomas M. Durcan
Publikováno v:
Stem Cell Research, Vol 62, Iss , Pp 102806- (2022)
Autosomal recessive mutations in either PRKN or PINK1 are associated with early-onset Parkinson’s disease. The corresponding proteins, PRKN, an E3 ubiquitin ligase, and the mitochondrial serine/threonine-protein kinase PINK1 play a role in mitochon
Externí odkaz:
https://doaj.org/article/1c3a8b1dc1c94353b21b2093d2012089
Autor:
María Lacalle-Aurioles, Camille Cassel de Camps, Cornelia E. Zorca, Lenore K. Beitel, Thomas M. Durcan
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 14 (2020)
Traumatic brain injury (TBI) is the leading cause of disability and mortality in children and young adults and has a profound impact on the socio-economic wellbeing of patients and their families. Initially, brain damage is caused by mechanical stres
Externí odkaz:
https://doaj.org/article/b8ad0f89e873408d841ca7ca9fe42837
Autor:
Carol X.-Q. Chen, Narges Abdian, Gilles Maussion, Rhalena A. Thomas, Iveta Demirova, Eddie Cai, Mahdieh Tabatabaei, Lenore K. Beitel, Jason Karamchandani, Edward A. Fon, Thomas M. Durcan
Publikováno v:
Methods and Protocols, Vol 4, Iss 3, p 50 (2021)
Induced pluripotent stem cells (iPSCs) derived from human somatic cells have created new opportunities to generate disease-relevant cells. Thus, as the use of patient-derived stem cells has become more widespread, having a workflow to monitor each li
Externí odkaz:
https://doaj.org/article/d02cf33f2e40479ab0c1861d8a0a6832
Autor:
Miklos Bagdany, Guido Veit, Ryosuke Fukuda, Radu G. Avramescu, Tsukasa Okiyoneda, Imad Baaklini, Jay Singh, Guy Sovak, Haijin Xu, Pirjo M. Apaja, Sara Sattin, Lenore K. Beitel, Ariel Roldan, Giorgio Colombo, William Balch, Jason C. Young, Gergely L. Lukacs
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-15 (2017)
The F508 deletion (F508del) in the cystic fibrosis transmembrane conductance regulator (CFTR) is the most common CF causing mutation. Here the authors show that cytosolic chaperones shift the F508del channel conformation to the native fold by kinetic
Externí odkaz:
https://doaj.org/article/e14a35b0276c400f88eedbb10dd40d9d
Autor:
Thomas M. Durcan, Paula Lépine, María Lacalle-Aurioles, Nguyen-Vi Mohamed, Wolfgang Reintsch, Julien Sirois, Edward A. Fon, Meghna Mathur, Lenore K. Beitel
Publikováno v:
Methods. 203:465-477
By providing a three-dimensional in vitro culture system with key features of the substantia nigra region in the brain, 3D neuronal organoids derived from human induced pluripotent stem cells (iPSCs) provide living neuronal tissue resembling the midb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::873173f7d2c4534c2727b645baf9afea
https://doi.org/10.1016/j.ymeth.2021.07.008
https://doi.org/10.1016/j.ymeth.2021.07.008
Publikováno v:
Frontiers in Pediatrics, Vol 7 (2019)
Autism Spectrum Disorders (ASDs) is a multigenic and multifactorial neurodevelopmental group of disorders diagnosed in early childhood, leading to deficits in social interaction, verbal and non-verbal communication and characterized by restricted and
Externí odkaz:
https://doaj.org/article/41bdae787a2840d79db99cbbaa92c526
Publikováno v:
Frontiers in Neuroscience, Vol 12 (2018)
Neurodegenerative diseases are a challenge for drug discovery, as the biological mechanisms are complex and poorly understood, with a paucity of models that faithfully recapitulate these disorders. Recent advances in stem cell technology have provide
Externí odkaz:
https://doaj.org/article/0dcb6d4ac07343bd80b9f0efe42373d8
Autor:
Carol X.-Q. Chen, Zhipeng You, Narges Abdian, Julien Sirois, Irina Shlaifer, Mahdieh Tabatabaei, Marie-Noëlle Boivin, Lydiane Gaborieau, Jason Karamchandani, Lenore K. Beitel, Edward A. Fon, Thomas M. Durcan
Autosomal recessive mutations in either PRKN or PINK1 are associated with early-onset Parkinson’s disease. The corresponding proteins, PRKN, an E3 ubiquitin ligase, and the mitochondrial serine/threonine-protein kinase PINK1 play a role in mitochon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9625dde9f2fac295c135d870d7aa68a9
https://doi.org/10.1101/2022.02.25.482014
https://doi.org/10.1101/2022.02.25.482014
