Zobrazeno 1 - 10
of 1 116
pro vyhledávání: '"Mitochondrial disorder"'
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
Obesity has emerged as a prominent global public health concern, leading to the development of numerous metabolic disorders such as cardiovascular diseases, type−2 diabetes mellitus (T2DM), sleep apnea and several system diseases. It is widely reco
Externí odkaz:
https://doaj.org/article/646defeb82c34d24a3966d854cb49c56
Autor:
María Alcázar-Fabra, Elsebet Østergaard, Daniel J.M. Fernández-Ayala, María Andrea Desbats, Valeria Morbidoni, Laura Tomás-Gallado, Laura García-Corzo, María del Mar Blanquer-Roselló, Abigail K. Bartlett, Ana Sánchez-Cuesta, Lucía Sena, Ana Cortés-Rodríguez, María Victoria Cascajo-Almenara, David J. Pagliarini, Eva Trevisson, Sabine W. Gronborg, Gloria Brea-Calvo
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 42, Iss , Pp 101176- (2025)
Background and aims: Primary Coenzyme Q (CoQ) deficiency caused by COQ4 defects is a clinically heterogeneous mitochondrial condition characterized by reduced levels of CoQ10 in tissues. Next-generation sequencing has lately boosted the genetic diagn
Externí odkaz:
https://doaj.org/article/8e9ebca35a5643d38b1e7d6f04a09cd9
Autor:
Josef Finsterer
Publikováno v:
JCRPE, Vol 16, Iss 4, Pp 514-515 (2024)
Externí odkaz:
https://doaj.org/article/c70e6016d79545179783e46003f9fafe
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
BackgroundCoenzyme Q10 (CoQ10) plays an important role in the electron transport chain within the human mitochondrial respiratory chain. The manifestations of this deficiency exhibit a diverse range. This study investigates the clinical manifestation
Externí odkaz:
https://doaj.org/article/fe229a014902458c8b4af7076629e92e
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 11 (2024)
IntroductionVariants in the PARS2 gene have been previously associated with developmental and epileptic encephalopathy. PARS2 deficiency was characterized as a neurodevelopmental and neurodegenerative disorder with early-onset seizures and global dev
Externí odkaz:
https://doaj.org/article/1398fe71cc8b4944a8033c92be4883f1
Autor:
Finsterer J
Publikováno v:
Pharmacogenomics and Personalized Medicine, Vol Volume 17, Pp 401-402 (2024)
Josef Finsterer Neurology & Neurophysiology Center, Vienna, AustriaCorrespondence: Josef Finsterer, Neurological Department, Neurology and Neurophysiology Center, Postfach 20, Vienna, 1180, Austria, Tel/Fax +43-1-5861075, Email fifigs1@yahoo.de
Externí odkaz:
https://doaj.org/article/5164c1f6df1044ac8fa3a4a0301534f5
Autor:
Daniela V. Pinto Payares, Logan Spooner, Jennifer Vosters, Samantha Dominguez, Lauren Patrick, Ann Harris, Shibani Kanungo
Publikováno v:
Frontiers in Psychiatry, Vol 15 (2024)
IntroductionMitochondrial diseases are known inborn errors affecting energy metabolism and are as common as chronic diseases such as diabetes, affecting approximately 1 in 5,000 people. The role of mitochondrial diseases/dysfunction has been highligh
Externí odkaz:
https://doaj.org/article/bcc3ca16d5864e1dbbc5eb4398d16982
Autor:
Manuela Schubert Baldo, Luísa Azevedo, Margarida Paiva Coelho, Esmeralda Martins, Laura Vilarinho
Publikováno v:
Diagnostics, Vol 14, Iss 19, p 2133 (2024)
Background: Leigh syndrome spectrum (LSS) is a novel nomenclature that encompasses both classical Leigh syndrome and Leigh-like phenotypes. Given the heterogeneity of disease presentation, a new consensus published recently addressed the main issues
Externí odkaz:
https://doaj.org/article/3c22373150b2485ebbad8136b9b365d0
Autor:
Parith Wongkittichote, Sanmati R. Cuddapah, Stephen R. Master, Dorothy K. Grange, Dennis Dietzen, Stephen M. Roper, Rebecca D. Ganetzky
Publikováno v:
JIMD Reports, Vol 64, Iss 5, Pp 367-374 (2023)
Abstract Dihydrolipoamide dehydrogenase (DLD; E3) oxidizes lipoic acid. Restoring the oxidized state allows lipoic acid to act as a necessary electron sink for the four mitochondrial keto‐acid dehydrogenases: pyruvate dehydrogenase, alpha‐ketoglu
Externí odkaz:
https://doaj.org/article/78e25699a85f48dfa105ff6dbe8a8d83
Autor:
Ziske Maritska, Nita Parisa, Mathius Karina, Marco Manza Putra, Noviyanti Eliska, Muhammad Irga, Maya Rina Santara Manurung, Andre Saputra
Publikováno v:
Indonesian Journal of Anesthesiology and Reanimation (IJAR), Vol 5, Iss 2, Pp 102-111 (2023)
Introduction: Mitochondrial Disorders (1/4,000 patients) are rare and caused by dysfunctional mitochondria. Anesthetic consideration in patients with Mitochondrial Disorders involves careful preoperative and perioperative observations. Objective: To
Externí odkaz:
https://doaj.org/article/3014585026f54c938d687d164f6c4d75