Zobrazeno 1 - 10
of 313
pro vyhledávání: '"Norbert, Weiss"'
Autor:
Robin N. Stringer, Norbert Weiss
Publikováno v:
Molecular Brain, Vol 16, Iss 1, Pp 1-17 (2023)
Abstract Amyotrophic lateral sclerosis (ALS) stands as the most prevalent and severe form of motor neuron disease, affecting an estimated 2 in 100,000 individuals worldwide. It is characterized by the progressive loss of cortical, brainstem, and spin
Externí odkaz:
https://doaj.org/article/6e928a2edb5540b3a73e6d377d68998b
Publikováno v:
Molecular Brain, Vol 16, Iss 1, Pp 1-5 (2023)
Abstract T-type calcium channelopathies encompass a group of human disorders either caused or exacerbated by mutations in the genes encoding different T-type calcium channels. Recently, a new heterozygous missense mutation in the CACNA1H gene that en
Externí odkaz:
https://doaj.org/article/f558935862cf41128a425c662d031105
Autor:
Vinitha N. Ragavan, Pramod C. Nair, Natalia Jarzebska, Ramcharan Singh Angom, Luana Ruta, Elisa Bianconi, Silvia Grottelli, Natalia D. Tararova, Daniel Ryazanskiy, Steven R. Lentz, Sara Tommasi, Jens Martens-Lobenhoffer, Toshiko Suzuki-Yamamoto, Masumi Kimoto, Elena Rubets, Sarah Chau, Yingjie Chen, Xinli Hu, Nadine Bernhardt, Peter M. Spieth, Norbert Weiss, Stefan R. Bornstein, Debabrata Mukhopadhyay, Stefanie M. Bode-Böger, Renke Maas, Ying Wang, Antonio Macchiarulo, Arduino A. Mangoni, Barbara Cellini, Roman N. Rodionov
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-16 (2023)
Abstract Dimethylarginine dimethylaminohydrolase 1 (DDAH1) protects against cardiovascular disease by metabolising the risk factor asymmetric dimethylarginine (ADMA). However, the question whether the second DDAH isoform, DDAH2, directly metabolises
Externí odkaz:
https://doaj.org/article/c46891e5d10241cf95a530af2ca4d6b5
Publikováno v:
Channels, Vol 17, Iss 1 (2023)
ABSTRACTMissense mutations in the human secretary carrier-associated membrane protein 5 (SCAMP5) cause a variety of neurological disorders including neurodevelopmental delay, epilepsy, and Parkinson’s disease. We recently documented the importance
Externí odkaz:
https://doaj.org/article/5237809d9ba44036b7d3575a220a22e4
Autor:
Emilio R. Mustafá, Eder Gambeta, Robin N. Stringer, Ivana A. Souza, Gerald W. Zamponi, Norbert Weiss
Publikováno v:
Molecular Brain, Vol 15, Iss 1, Pp 1-14 (2022)
Abstract Trigeminal neuralgia (TN) is a rare form of chronic neuropathic pain characterized by spontaneous or elicited paroxysms of electric shock-like or stabbing pain in a region of the face. While most cases occur in a sporadic manner and are acco
Externí odkaz:
https://doaj.org/article/9ec48b506f2a4dafb732afc422aa57dd
Autor:
Roman N. Rodionov, Natalia Jarzebska, Dmitrii Burdin, Vladimir Todorov, Jens Martens-Lobenhoffer, Anja Hofmann, Anne Kolouschek, Nada Cordasic, Johannes Jacobi, Elena Rubets, Henning Morawietz, John F. O’Sullivan, Alexander G. Markov, Stefan R. Bornstein, Karl Hilgers, Renke Maas, Christian Pfluecke, YingJie Chen, Stefanie M. Bode-Böger, Christian P. M. Hugo, Bernd Hohenstein, Norbert Weiss
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-13 (2022)
Abstract Elevated plasma concentrations of asymmetric dimethylarginine (ADMA) are associated with an increased risk of mortality and adverse cardiovascular outcomes. ADMA can be metabolized by dimethylarginine dimethylaminohydrolases (DDAHs) and by a
Externí odkaz:
https://doaj.org/article/674f7781bc76496db8e890262bf3eaf5
Publikováno v:
Molecular Brain, Vol 15, Iss 1, Pp 1-5 (2022)
Abstract Voltage-gated calcium channels are essential regulators of brain function where they support depolarization-induced calcium entry into neurons. They consist of a pore-forming subunit (Cavα1) that requires co-assembly with ancillary subunits
Externí odkaz:
https://doaj.org/article/3382d6fbe8004e9daa4ab35c25de982d
Autor:
Leos Cmarko, Robin N. Stringer, Bohumila Jurkovicova-Tarabova, Tomas Vacik, Lubica Lacinova, Norbert Weiss
Publikováno v:
Molecular Brain, Vol 15, Iss 1, Pp 1-5 (2022)
Abstract Low-voltage-activated T-type Ca2+ channels are key regulators of neuronal excitability both in the central and peripheral nervous systems. Therefore, their recruitment at the plasma membrane is critical in determining firing activity pattern
Externí odkaz:
https://doaj.org/article/8061933a66364f57af6eede9cdeef15d
Autor:
Robin N. Stringer, Bohumila Jurkovicova-Tarabova, Ivana A. Souza, Judy Ibrahim, Tomas Vacik, Waseem Mahmoud Fathalla, Jozef Hertecant, Gerald W. Zamponi, Lubica Lacinova, Norbert Weiss
Publikováno v:
Molecular Brain, Vol 14, Iss 1, Pp 1-5 (2021)
Abstract Developmental and epileptic encephalopathies (DEEs) are a group of severe epilepsies that are characterized by seizures and developmental delay. DEEs are primarily attributed to genetic causes and an increasing number of cases have been corr
Externí odkaz:
https://doaj.org/article/3f066df756e94d84ba7d997e8e58c750
Autor:
Vendula Ficelova, Ivana A. Souza, Leos Cmarko, Maria A. Gandini, Robin N. Stringer, Gerald W. Zamponi, Norbert Weiss
Publikováno v:
Molecular Brain, Vol 13, Iss 1, Pp 1-4 (2020)
Abstract Low-voltage-activated T-type calcium channels are important contributors to nervous system function. Post-translational modification of these channels has emerged as an important mechanism to control channel activity. Previous studies have d
Externí odkaz:
https://doaj.org/article/502f558e4ba041fbbcebcc7be41cd7a7