Zobrazeno 1 - 10
of 184
pro vyhledávání: '"Zellweger spectrum disorder"'
Autor:
Mark Hsu, Amith Subhash
Publikováno v:
Case Reports in Gastroenterology, Vol 17, Iss 1, Pp 168-171 (2023)
Zellweger spectrum disorders (ZSDs) are known to present with variable hepatic manifestations ranging from benign hepatosplenomegaly and elevated liver enzymes to advanced liver cirrhosis with hepatocellular carcinoma. However, the progression of liv
Externí odkaz:
https://doaj.org/article/b003202650324d7db3f15f518f1b8e9a
Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
Autor:
Paola Borgia, Simona Baldassari, Nicoletta Pedemonte, Ebba Alkhunaizi, Gianluca D’Onofrio, Domenico Tortora, Elisa Calì, Paolo Scudieri, Ganna Balagura, Ilaria Musante, Maria Cristina Diana, Marina Pedemonte, Maria Stella Vari, Michele Iacomino, Antonella Riva, Roberto Chimenz, Giuseppe D. Mangano, Mohammad Hasan Mohammadi, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Ehsan Ghayoor Karimiani, Andrea Accogli, Maria Cristina Schiaffino, Mohamad Maghnie, Miguel Angel Soler, Karl Echiverri, Charles K. Abrams, Pasquale Striano, Sara Fortuna, Reza Maroofian, Henry Houlden, Federico Zara, Chiara Fiorillo, Vincenzo Salpietro
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-18 (2022)
Abstract Background Pathogenic variants in PEX-genes can affect peroxisome assembly and function and cause Zellweger spectrum disorders (ZSDs), characterized by variable phenotypes in terms of disease severity, age of onset and clinical presentations
Externí odkaz:
https://doaj.org/article/b0942062979e4884addbd3a28381170c
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:
Janaina Nogueira Anderson, Zineb Ammous, Yasemen Eroglu, Erick Hernandez, James Heubi, Ryan Himes, Sirish Palle
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-13 (2021)
Abstract Background Zellweger spectrum disorders (ZSDs) are a rare, heterogenous group of autosomal recessively inherited disorders characterized by reduced peroxisomes numbers, impaired peroxisomal formation, and/or defective peroxisomal functioning
Externí odkaz:
https://doaj.org/article/a45a422967144db6a090a288c29189f1
Akademický článek
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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
Autor:
Mousumi Bose, Christine Yergeau, Yasmin D’Souza, David D. Cuthbertson, Melisa J. Lopez, Alyssa K. Smolen, Nancy E. Braverman
Publikováno v:
Cells, Vol 11, Iss 12, p 1891 (2022)
Zellweger spectrum disorder (ZSD) is a rare, debilitating genetic disorder of peroxisome biogenesis that affects multiple organ systems and presents with broad clinical heterogeneity. Although severe, intermediate, and mild forms of ZSD have been des
Externí odkaz:
https://doaj.org/article/32cc8a7aeea94e1c98512eeaad904853
Autor:
Femke C. C. Klouwer, Kim D. Falkenberg, Rob Ofman, Janet Koster, Démi van Gent, Sacha Ferdinandusse, Ronald J. A. Wanders, Hans R. Waterham
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Peroxisome biogenesis disorders within the Zellweger spectrum (PBD-ZSDs) are most frequently associated with the c.2528G>A (p.G843D) mutation in the PEX1 gene (PEX1-G843D), which results in impaired import of peroxisomal matrix proteins and, conseque
Externí odkaz:
https://doaj.org/article/714d994559274b5aa2102e279188ee8d
Autor:
Whiwon Lee, Gregory Costain, Susan Blaser, Susan Walker, Christian R. Marshall, Hernan Gonorazky, Michal Inbar-Feigenberg
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100664- (2020)
Defects in PEX3 are associated with a severe neonatal-lethal form of Zellweger spectrum disorder. We report two moderately affected siblings whose clinical and biochemical phenotypes expand the reported spectrum of PEX3-related disease. Genome sequen
Externí odkaz:
https://doaj.org/article/76af2b15e588423da2db6e45d3ab2e6e
Akademický článek
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