Zobrazeno 1 - 10
of 374
pro vyhledávání: '"Pex1"'
Autor:
Lavanya Mahadevan, Hemant Arya, Andrea Droste, Wolfgang Schliebs, Ralf Erdmann, Vishal C. Kalel
Publikováno v:
Frontiers in Cellular and Infection Microbiology, Vol 14 (2024)
Trypanosomatid parasites are kinetoplastid protists that compartmentalize glycolytic enzymes in unique peroxisome-related organelles called glycosomes. The heterohexameric AAA-ATPase complex of PEX1-PEX6 is anchored to the peroxisomal membrane and fu
Externí odkaz:
https://doaj.org/article/2bcff8bf4e84481eb18fa2381e714618
Autor:
Catherine Argyriou, Anna Polosa, Ji Yun Song, Samy Omri, Bradford Steele, Bruno Cécyre, Devin S. McDougald, Erminia Di Pietro, Jean-François Bouchard, Jean Bennett, Joseph G. Hacia, Pierre Lachapelle, Nancy E. Braverman
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 23, Iss , Pp 225-240 (2021)
Patients with Zellweger spectrum disorder (ZSD) commonly present with vision loss due to mutations in PEX genes required for peroxisome assembly and function. Here, we evaluate PEX1 retinal gene augmentation therapy in a mouse model of mild ZSD beari
Externí odkaz:
https://doaj.org/article/8cbf07d636cf46afa1661d18efa2eb4c
Autor:
Feng-Juan Gao, Fang-Yuan Hu, Ping Xu, Yu-He Qi, Jian-Kang Li, Yong-Jin Zhang, Fang Chen, Qing Chang, Fang Song, Si-Mai Shen, Ge-Zhi Xu, Ji-Hong Wu
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-12 (2019)
Abstract Background Heimler syndrome (HS) is a rare hereditary systemic disorder, partial clinically overlapping with Usher syndrome. So far, our knowledge of HS is very limited, many cases are misdiagnosed or may not even be diagnosed at all. This s
Externí odkaz:
https://doaj.org/article/3ae7528d7f584d748109648bc37a583a
Publikováno v:
Cells, Vol 11, Iss 24, p 3982 (2022)
Peroxisome Biogenesis Disorders (PBD) and Zellweger syndrome spectrum disorders (ZSD) are rare genetic multisystem disorders that include hearing impairment and are associated with defects in peroxisome assembly, function, or both. Mutations in 13 pe
Externí odkaz:
https://doaj.org/article/af6841bbc15e4c1cb23a820f7b8aea4d
Autor:
Gerard Muñoz-Pujol, Socorro Alforja-Castiella, Ricardo Casaroli-Marano, Blai Morales-Romero, Judit García-Villoria, Vicente A. Yépez, Julien Gagneur, Mirjana Gusic, Holger Prokisch, Frederic Tort, Antonia Ribes
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 20, p 12367 (2022)
Peroxisomal biogenesis disorders (PBDs) are a heterogeneous group of genetic diseases. Multiple peroxisomal pathways are impaired, and very long chain fatty acids (VLCFA) are the first line biomarkers for the diagnosis. The clinical presentation of P
Externí odkaz:
https://doaj.org/article/c031a961809d4b5d990377917227e0ea
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Zellweger spectrum disorder (ZSD) is a heterogeneous group of autosomal recessive disorders characterized by a defect in peroxisome formation and attributable to mutations in the PEX gene family. Patients with ZSD have profound neurologic impairments
Externí odkaz:
https://doaj.org/article/40084a5df719478fa910029daeb36395
Publikováno v:
Cells, Vol 11, Iss 13, p 2067 (2022)
The AAA-ATPases Pex1 and Pex6 are required for the formation and maintenance of peroxisomes, membrane-bound organelles that harbor enzymes for specialized metabolism. Together, Pex1 and Pex6 form a heterohexameric AAA-ATPase capable of unfolding subs
Externí odkaz:
https://doaj.org/article/8d6cf5ddaf3f4723be03388ad221d9f4
Akademický článek
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Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Tanguy Demaret, Jonathan Evraerts, Joachim Ravau, Martin Roumain, Giulio G. Muccioli, Mustapha Najimi, Etienne M. Sokal
Publikováno v:
Cells, Vol 10, Iss 1, p 40 (2020)
Genetic alterations in PEX genes lead to peroxisome biogenesis disorder. In humans, they are associated with Zellweger spectrum disorders (ZSD). No validated treatment has been shown to modify the dismal natural history of ZSD. Liver transplantation
Externí odkaz:
https://doaj.org/article/7e5ace1490694c9a82bf06b5a5c975d6