Zobrazeno 1 - 10
of 70
pro vyhledávání: '"R. Anne McKinney"'
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 18 (2024)
Synaptopodin, an actin-associated protein found in a subset of dendritic spines in telencephalic neurons, has been described to influence both functional and morphological plasticity under various plasticity paradigms. Synaptopodin is necessary and s
Externí odkaz:
https://doaj.org/article/1860d2bf22484f0ebb784378cc65fda1
Publikováno v:
Molecular Brain, Vol 17, Iss 1, Pp 1-10 (2024)
Abstract Synaptopodin (SP), an actin-associated protein found in telencephalic neurons, affects activity-dependant synaptic plasticity and dynamic changes of dendritic spines. While being required for long-term depression (LTD) mediated by metabotrop
Externí odkaz:
https://doaj.org/article/6c0d77d8df7f419c86ef43006a47beb8
Autor:
Brenda Toscano Márquez, Tsz Chui Sophia Leung, Jeanette Hui, François Charron, R. Anne McKinney, Alanna J. Watt
Publikováno v:
Neurobiology of Disease, Vol 183, Iss , Pp 106157- (2023)
Mitochondrial deficits have been observed in animal models of Autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) and in patient-derived fibroblasts. We investigated whether mitochondrial function could be restored in Sacs−/− mice,
Externí odkaz:
https://doaj.org/article/028672de4760470a8af518d9fa8da142
Publikováno v:
Frontiers in Physiology, Vol 13 (2022)
Endomembrane alkali cation (Na+, K+)/proton (H+) exchangers (eNHEs) are increasingly associated with neurological disorders. These eNHEs play integral roles in regulating the luminal pH, processing, and trafficking of cargo along the secretory (Golgi
Externí odkaz:
https://doaj.org/article/1500ff46b15248199dfdb11cf09c58c5
Autor:
Brenda Toscano Márquez, Anna A. Cook, Max Rice, Alexia Smileski, Kristen Vieira-Lomasney, François Charron, R. Anne McKinney, Alanna J. Watt
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 15 (2021)
Patterned cell death is a common feature of many neurodegenerative diseases. In patients with autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) and mouse models of ARSACS, it has been observed that Purkinje cells in anterior cerebell
Externí odkaz:
https://doaj.org/article/be178d3a28794133b63c8e92df9a0180
Autor:
Roxanne Larivière, Nicolas Sgarioto, Brenda Toscano Márquez, Rébecca Gaudet, Karine Choquet, R. Anne McKinney, Alanna J. Watt, Bernard Brais
Publikováno v:
Molecular Brain, Vol 12, Iss 1, Pp 1-15 (2019)
Abstract Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS [MIM 270550]) is an early-onset neurodegenerative disorder caused by mutations in the SACS gene. Over 200 SACS mutations have been identified. Most mutations lead to a complet
Externí odkaz:
https://doaj.org/article/badcef6e2e4d400aaf08c0ad52d683c0
Autor:
Alina Ilie, Andy Y.L. Gao, Annie Boucher, Jaeok Park, Albert M. Berghuis, Mariëtte J.V. Hoffer, Yvonne Hilhorst-Hofstee, R. Anne McKinney, John Orlowski
Publikováno v:
Neurobiology of Disease, Vol 121, Iss , Pp 187-204 (2019)
Loss-of-function mutations in the recycling endosomal (Na+,K+)/H+ exchanger gene SLC9A6/NHE6 result in overacidification and dysfunction of endosomal-lysosomal compartments, and cause a neurodevelopmental and degenerative form of X-linked intellectua
Externí odkaz:
https://doaj.org/article/783c4bd5a3b749d3b6d019056efbdbee
Autor:
Dusica Maysinger, Issan Zhang, Pei You Wu, Marten Kagelmacher, Haiming Daniel Luo, Jayachandran N. Kizhakkedathu, Jens Dernedde, Matthias Ballauff, Rainer Haag, Adeola Shobo, Gerhard Multhaup, R. Anne McKinney
Publikováno v:
ACS Chemical Neuroscience. 14:677-688
Publikováno v:
eLife, Vol 8 (2019)
Exposing chicks to one hour of light during the night disrupts the release of a hormone that is needed by cells in the developing brain to survive.
Externí odkaz:
https://doaj.org/article/6569427055e74b85a014961611f1d903
Publikováno v:
Neurobiology of Disease, Vol 130, Iss , Pp 104490- (2019)
Christianson Syndrome is a rare but increasingly diagnosed X-linked intellectual disability disorder that arises from mutations in SLC9A6/NHE6, a pH-regulating transporter that localizes to early and recycling endosomes. We have recently reported tha
Externí odkaz:
https://doaj.org/article/f969f5cb01724d5297ca1da362db572f