Zobrazeno 1 - 10
of 256
pro vyhledávání: '"DHPR"'
Publikováno v:
European Journal of Translational Myology (2024)
Among the numerous changes that occur in skeletal muscle during aging, the reduced regeneration potential after an injury is largely due to the impaired ability of satellite cells to proliferate and differentiate. Herein, using the freeze-fracture el
Externí odkaz:
https://doaj.org/article/d2e9bbac1e3b42aaa606f3fc3a11e19b
Autor:
Samah K. Aburahma, Liqa A. Rousan, Mohammad Shboul, Fabio Biella, Sabrina Lucchiari, Giacomo Pietro Comi, Giovanni Meola, Serena Pagliarani
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
IntroductionCACNA1S related congenital myopathy is an emerging recently described entity. In this report we describe 2 sisters with mutations in the CACNA1S gene and the novel phenotype of congenital myopathy and infantile onset episodic weakness.Cli
Externí odkaz:
https://doaj.org/article/6569a66ef1434ed79db81c82146022f2
Publikováno v:
Channels, Vol 17, Iss 1 (2023)
ABSTRACTThe CaV1.1 voltage-gated Ca2+ channel carries L-type Ca2+ current and is the voltage-sensor for excitation-contraction (EC) coupling in skeletal muscle. Significant breakthroughs in the EC coupling field have often been close on the heels of
Externí odkaz:
https://doaj.org/article/6bf9debf056341e99a39e8f282991339
Autor:
Charles Marques Lourenço, Janaina Dovidio, Isabela F. Lopes, Laís C. Silva, Marcela Almeida, Laura Vagnini, Jacqueline Fonseca, Zumira A. Carneiro, Beat Thöny
Publikováno v:
JIMD Reports, Vol 61, Iss 1, Pp 19-24 (2021)
Abstract Tetrahydrobiopterin (BH4) is a cofactor that participates in the biogenesis reactions of a variety of biomolecules, including l‐tyrosine, l‐3,4‐dihydroxyphenylalanine, 5‐hydroxytryptophan, nitric oxide, and glycerol. Dihydropteridine
Externí odkaz:
https://doaj.org/article/7b828b4eb5b847499bedf6164e4f39a5
Autor:
Nicola Vitturi, Livia Lenzini, Concetta Luisi, Miryam Carecchio, Giorgia Gugelmo, Francesco Francini‐Pesenti, Angelo Avogaro
Publikováno v:
JIMD Reports, Vol 61, Iss 1, Pp 48-51 (2021)
Abstract We report the case of a 22‐year‐old man with a diagnosis of dihydropteridine reductase (DHPR) deficiency who progressively developed movement disorders and epilepsy. Despite L‐Dopa supplementation the patient continued to show high pro
Externí odkaz:
https://doaj.org/article/63c13639999841ec97321e78fa369947
Autor:
Ayse Ergul Bozaci, Esra Er, Havva Yazici, Ebru Canda, Sema Kalkan Uçar, Merve Güvenc Saka, Cenk Eraslan, Hüseyin Onay, Sara Habif, Beat Thöny, Mahmut Coker
Publikováno v:
JIMD Reports, Vol 59, Iss 1, Pp 42-51 (2021)
Abstract Objectives The present study describes clinical, biochemical, molecular genetic data, current treatment strategies and follow‐up in nine patients with tetrahydrobiopterin (BH4) deficiency due to various inherited genetic defects. Methods W
Externí odkaz:
https://doaj.org/article/053d01ef3df24532b18e7c5386497a19
Publikováno v:
eLife, Vol 10 (2021)
Skeletal muscle excitation-contraction (EC) coupling roots in Ca2+-influx-independent inter-channel signaling between the sarcolemmal dihydropyridine receptor (DHPR) and the ryanodine receptor (RyR1) in the sarcoplasmic reticulum. Although DHPR Ca2+
Externí odkaz:
https://doaj.org/article/54751512c56a4f7fb1a69b89d6705b60
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
PeerJ, Vol 8, p e8153 (2020)
Background Pulmonary hypertension occurs in approximately 1% of the global population, and the prognosis for such patients may be poor. However, the mechanisms underlying the development of this disease remain unclear. Thus, understanding the develop
Externí odkaz:
https://doaj.org/article/2d9d6f1193bf49eb8829f330f2a98e95
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.