Zobrazeno 1 - 10
of 997
pro vyhledávání: '"Polg"'
Autor:
Francois Singh, Lea Wilhelm, Alan R. Prescott, Kevin Ostacolo, Jin-Feng Zhao, Margret H. Ogmundsdottir, Ian G. Ganley
Publikováno v:
Autophagy Reports, Vol 3, Iss 1 (2024)
PINK1, mutated in familial forms of Parkinson’s disease, initiates mitophagy following mitochondrial depolarization. However, it is difficult to monitor this pathway physiologically in mice as loss of PINK1 does not alter basal mitophagy levels in
Externí odkaz:
https://doaj.org/article/5b57ed0a9adb48e88193d7ed8114fd86
Akademický článek
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Autor:
Heather Pekeles, Saoussen Berrahmoune, Christelle Dassi, Anthony C.T. Cheung, Tommy Gagnon, Paula J. Waters, Ralf Eberhard, Daniela Buhas, Kenneth A. Myers
Publikováno v:
EClinicalMedicine, Vol 74, Iss , Pp 102740- (2024)
Summary: Background: DNA polymerase gamma (POLG)-related disorders are a group of rare neurodegenerative mitochondrial diseases caused by pathogenic variants in POLG, the gene encoding POLG. Patients may experience a range of signs and symptoms, incl
Externí odkaz:
https://doaj.org/article/5c771b201fc2471fa8c75fd0226fc779
Hallmark Molecular and Pathological Features of POLG Disease are Recapitulated in Cerebral Organoids
Autor:
Anbin Chen, Tsering Yangzom, Yu Hong, Bjørn Christian Lundberg, Gareth John Sullivan, Charalampos Tzoulis, Laurence A. Bindoff, Kristina Xiao Liang
Publikováno v:
Advanced Science, Vol 11, Iss 18, Pp n/a-n/a (2024)
Abstract In this research, a 3D brain organoid model is developed to study POLG‐related encephalopathy, a mitochondrial disease stemming from POLG mutations. Induced pluripotent stem cells (iPSCs) derived from patients with these mutations is utili
Externí odkaz:
https://doaj.org/article/c1091475b6fa4da18c0883fa0bf68dff
Publikováno v:
The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, Vol 59, Iss 1, Pp 1-7 (2023)
Abstract Background Mitochondrial DNA polymerase, which is encoded by the POLG (polymerase gamma) gene, is responsible for the replication of the mitochondrial genome. Around 300 pathogenic variants have been identified in this gene and the clinical
Externí odkaz:
https://doaj.org/article/ca319b5ff268451cadb6bf9ce1110584
Autor:
Yang Wang, Jieyi Wang, Lan Chen, Zhuo Chen, Tong Wang, Shuting Xiong, Tong Zhou, Guang Wu, Licai He, Jiawei Cao, Min Liu, Hongzhi Li, Haihua Gu
Publikováno v:
Cancer Cell International, Vol 23, Iss 1, Pp 1-17 (2023)
Abstract Background Breast cancer is the leading cause of cancer death for women worldwide. Most of the breast cancer death are due to disease recurrence and metastasis. Increasingly accumulating evidence indicates that mitochondria play key roles in
Externí odkaz:
https://doaj.org/article/2c032c06a8e2493097dc9c6dc064819b
Publikováno v:
Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-13 (2023)
Abstract Refractory epilepsy is the main neurological manifestation of Alpers’ syndrome, a severe childhood-onset mitochondrial disease caused by bi-allelic pathogenic variants in the mitochondrial DNA (mtDNA) polymerase gamma gene (POLG). The path
Externí odkaz:
https://doaj.org/article/8e9d2f09c5784d55a2312be18ed13da1
Akademický článek
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Akademický článek
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Publikováno v:
Clinical and Translational Neuroscience, Vol 7, Iss 4, p 32 (2023)
PAPT syndrome is a rare neurologic disorder characterized by progressive ataxia and palatal tremor (rhythmic movements of the soft palate). The first large study of PAPT patients was published in 2004, included a total of 28 sporadic PAPT cases, and
Externí odkaz:
https://doaj.org/article/91303a5d133a4e1ebf02fb959bf7fa63