KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect

Autor: James A. Wohlschlegel, Jill A. Rosenfeld, Isabelle Coppens, Janet Markle, Marsha Pratt, Nawal Makhseed, Xianghui Chen, Thomas A. Burrow, Yu Zhang, Timothy S. Wang, Santosh R. Mordekar, Noelle R. Danylchuk, Michael E. Meadow, Kyle Metz, Daniel Crooks, Satish Agadi, Katrina Peariso, Gerard T. Berry, Michael J. Parker, Hee Jong Kim, Esther Leshinsky-Silver, Dianalee McKnight, Christine Stanley, Tobias Loddenkemper, Adam L. Hartman, Isabelle Prehl, Gustavo Maegawa, J. Marie Hardwick, Adolfo Garnica, Abdel Aouacheria, Min Tsui Ong, Parul Jayakar, Weimin Bi, Heather M. Lamb, Hatha Gbedawo, Michael Alber, Bart E. Wagner, Thomas C. Markello, Yaping Yang, Glenn Anderson, Xinchen Teng, Edda Haberlandt, Pankaj B. Agrawal

Publikováno v: Annals of Neurology
Annals of Neurology, 2018, 84 (5), pp.766-780. ⟨10.1002/ana.25351⟩
Annals of Neurology, Wiley, 2018, 84 (5), pp.766-780. ⟨10.1002/ana.25351⟩

International audience; OBJECTIVE:Several small case series identified KCTD7 mutations in patients with a rare autosomal recessive disorder designated progressive myoclonic epilepsy (EPM3) and neuronal ceroid lipofuscinosis (CLN14). Despite the name

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e934647c53095a558f35a183951ec7ee
https://doi.org/10.1002/ana.25351

QT length during methadone maintenance treatment: gene × dose interaction

Autor: Frank Bellivier, François Naccache, Vanessa Bloch, Jean Pierre Lepine, Florence Vorspan, Stéphane Mouly, Andries T. Marees, Cynthia Marie-Claire, Nathalie Prince, Jean-Louis Laplanche, El Hadi Zerdazi

Publikováno v: Fundamental and Clinical Pharmacology
Fundamental and Clinical Pharmacology, Wiley, 2018, ⟨10.1111/fcp.12405⟩
Fundamental and Clinical Pharmacology, 33(1), 96-106. Wiley-Blackwell
Fundamental and Clinical Pharmacology, Wiley, 2019, 33 (1), pp.96-106. ⟨10.1111/fcp.12405⟩
Zerdazi, E H, Vorspan, F, Marees, A T, Naccache, F, Lepine, J P, Laplanche, J L, Prince, N, Marie-Claire, C, Bellivier, F, Mouly, S & Bloch, V 2019, ' QT length during methadone maintenance treatment: gene × dose interaction ', Fundamental and Clinical Pharmacology, vol. 33, no. 1, pp. 96-106 . https://doi.org/10.1111/fcp.12405
Fundamental & clinical pharmacology, 33(1), 96-106. Wiley-Blackwell
Fundamental & Clinical Pharmacology
Fundamental & Clinical Pharmacology, 2018, 33 (1), pp.96-106. ⟨10.1111/fcp.12405⟩

Methadone is known to be a risk factor for sudden death by enlarging ECG QT corrected (QTc) interval. For other medical conditions, QTc lengthening has been described as the result of interactions between pharmacological treatments and genetic factor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eedcda2f7771c5a7b3a9a973b2b0e12c
https://doi.org/10.1111/fcp.12405

Dromedary immune response and specific Kv2.1 antibody generation using a specific immunization approach

Autor: Zakaria Benlasfar, Mohamed El Ayeb, Rym Hassiki, Serge Muyldermans, Cécile Vincke, Dirk J. Snyders, Mahmoud Somia, Balkiss Bouhaouala-Zahar, Alain J. Labro

Publikováno v: International Journal of Biological Macromolecules
International Journal of Biological Macromolecules, Elsevier, 2016, 93 (pt A), pp.167-171. ⟨10.1016/j.ijbiomac.2016.06.031⟩
International journal of biological macromolecules

International audience; Voltage-gated potassium (Kv) channels form cells repolarizing power and are commonly expressed in excitable cells. In non-excitable cells, Kv channels such as Kv2.1 are involved in cell differentiation and growth. Due to the i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62c361f748c414c19d3bb97997d5e616
https://doi.org/10.1016/j.ijbiomac.2016.06.031

Efficacy and safety of calcium, magnesium, potassium, and sodium oxybates (lower-sodium oxybate [LXB]; JZP-258) in a placebo-controlled, double-blind, randomized withdrawal study in adults with narcolepsy with cataplexy

Autor: Rafael Del Rio Villegas, Karel Sonka, Roman Skowronski, Yves Dauvilliers, Markku Partinen, Lihua Tang, Michael J. Thorpy, Nancy Foldvary-Schaefer, Richard K. Bogan, Franck Skobieranda

Publikováno v: Sleep
SLEEP
SLEEP, American Academy of Sleep Medicine, 2021, 44 (3), ⟨10.1093/sleep/zsaa206⟩
SLEEP, Oxford University Press 2021, 44 (3), pp.zsaa206. ⟨10.1093/sleep/zsaa206⟩

Study Objectives Evaluate efficacy and safety of lower-sodium oxybate (LXB), a novel oxybate medication with 92% less sodium than sodium oxybate (SXB). Methods Adults aged 18–70 years with narcolepsy with cataplexy were eligible. The study included

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ec60561b22e079fc899358eadf1e411
http://europepmc.org/articles/PMC7953213

Functional role of Kv1.1 and Kv1.3 channels in the neoplastic progression steps of three cancer cell lines, elucidated by scorpion peptides

Autor: Wassim Moslah, Soumaya Souid, Jed Jebali, Dorra Aissaoui, Houcemeddine Othman, Mohamed Elayeb, Saoussen Mlayah-Bellalouna, José Luis, Zaineb Abdelkafi-Koubaa, Khadija Essafi-Benkhadir, Naziha Marrakchi, Najet Srairi-Abid

Publikováno v: International Journal of Biological Macromolecules
International Journal of Biological Macromolecules, 2018, 111, pp.1146-1155. ⟨10.1016/j.ijbiomac.2018.01.144⟩
International Journal of Biological Macromolecules, Elsevier, 2018, 111, pp.1146-1155. ⟨10.1016/j.ijbiomac.2018.01.144⟩

International audience; Voltage-gated potassium (Kv) channels are known to play a pivotal role in the progression of various cancer types and considered as new targets for designing anti-cancer therapy. However, the fact that many Kv channels are exp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9397ccddf29007935bd17cae2ee4bb23
https://hal-amu.archives-ouvertes.fr/hal-01765752