Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Catherine, Argyriou"'
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:
Ana G. Pedrosa, Katharina Reglinski, Celien Lismont, Suzan Kors, Joseph Costello, Tony A. Rodrigues, Mariana Marques, Nicole Linka, Catherine Argyriou, Isabelle Weinhofer, Sai Kocherlakota, Victoria Riccio, Vanessa Ferreira, Francesca Di Cara, Ana Rita Ferreira, Tânia Francisco, Jorge E. Azevedo, Daniela Ribeiro
Publikováno v:
Histochemistry and Cell Biology. 159:379-387
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4342130b69b5b1524b996dd35864b7b0
https://doi.org/10.1007/s00418-023-02201-9
https://doi.org/10.1007/s00418-023-02201-9
Autor:
Jean-François Bouchard, Pierre Lachapelle, Samy Omri, Nancy Braverman, Devin S. McDougald, Ji Yun Song, Erminia Di Pietro, Bruno Cécyre, Catherine Argyriou, Anna Polosa, Joseph G. Hacia, Jean Bennett, Bradford H. Steele
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::27287904ece42349e0b1e5e750c3b06d
https://doi.org/10.1016/j.omtm.2021.09.002
https://doi.org/10.1016/j.omtm.2021.09.002
Autor:
Christine Yergeau, Razek Georges Coussa, Fares Antaki, Catherine Argyriou, Robert K. Koenekoop, Nancy E. Braverman
BackgroundZellweger Spectrum Disorder (ZSD) is caused by bi-allelic defects in any of 13PEXgenes, resulting in failure to form functional peroxisomes. Individuals manifest a wide spectrum of clinical phenotypes and severity, but almost all have retin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c32fb58a1c2db20ea29e74ceb3b3ef66
https://doi.org/10.1101/2022.11.06.22279732
https://doi.org/10.1101/2022.11.06.22279732
Autor:
Katie J. Clowers, Joshua L. Bonkowsky, Ilka Wittig, James E. Cox, Minna Roh-Johnson, Esther Nuebel, Steven P. Gygi, Jordan A. Berg, Catherine Argyriou, Nancy Braverman, J. Alan Maschek, Chelsea U Kidwell, Jeffrey T. Morgan, Jared Rutter, Jacob M. Winter, Sandra Lettlova, Yu-Chan Chen, Lingxiao Chen, Sarah Fogarty
Publikováno v:
EMBO Reports
EMBO Rep
EMBO Rep
Zellweger spectrum disorder (ZSD) is the most severe peroxisomal biogenesis disorder (PBD). Why ZSD patients not only loose functional peroxisomes but also present with severe mitochondrial dysfunction was a long‐standing mystery. In this issue, Nu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5a6391349720e2952e843d111ddbfc6
https://doi.org/10.15252/embr.202051991
https://doi.org/10.15252/embr.202051991
Autor:
Anthony Cheung, Catherine Argyriou, Christine Yergeau, Yasmin D’Souza, Émilie Riou, Sébastien Lévesque, Gerald Raymond, Mebratu Daba, Irakli Rtskhiladze, Tinatin Tkemaladze, Laura Adang, Roberta La Piana, Geneviève Bernard, Nancy Braverman
Publikováno v:
Neurogenetics. 23(2)
Peroxisome biogenesis disorders-Zellweger spectrum disorders (PBD-ZSD)-are primarily autosomal recessive disorders caused by mutations in any of 13 PEX genes involved in peroxisome assembly. Compared to other PEX-related disorders, some PEX16 defects
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb0fda28f965dac0f00b4330a0bda577
https://pubmed.ncbi.nlm.nih.gov/35106698
https://pubmed.ncbi.nlm.nih.gov/35106698
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
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://explore.openaire.eu/search/publication?articleId=pmid________::3f8aa50923c0af1a5b2428d165b56020
https://pubmed.ncbi.nlm.nih.gov/34703844
https://pubmed.ncbi.nlm.nih.gov/34703844
Autor:
Sarah Fogarty, Ilka Wittig, Steven P. Gygi, Steven J. Steinberg, Jared Rutter, Katie J. Clowers, J. Alan Maschek, Catherine Argyriou, Chelsea U Kidwell, James E. Cox, Jeffrey T. Morgan, Yu-Chan Chen, Minna Roh-Johnson, Lingxiao Chen, Jordan A. Berg, Jacob M. Winter, Esther Nuebel, Nancy Braverman, Sandra Lettlova
Peroxisomal Biogenesis Disorders (PBDs) are a class of inherited metabolic disorders with profound neurological and other phenotypes. The most severe PBDs are caused by mutations in peroxin genes, which result in nonfunctional peroxisomes typically t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::54210e104b3ff5fc66f14024f4e3c91b
https://doi.org/10.1101/2020.09.19.303826
https://doi.org/10.1101/2020.09.19.303826
Autor:
Dantong Wang, Ying Wang, Catherine Argyriou, Audrey Carrière, Danielle Malo, Siegfried Hekimi
Publikováno v:
PLoS ONE, Vol 7, Iss 11, p e49606 (2012)
The immune response is essential for survival by destroying microorganisms and pre-cancerous cells. However, inflammation, one aspect of this response, can result in short- and long-term deleterious side-effects. Mclk1⁺/⁻ mutant mice can be long-
Externí odkaz:
https://doaj.org/article/c4a37b066ebf4341844796b2c386072b
Autor:
Catherine Argyriou, Panteha Saberian, Sara Birjandian, Gillian E. MacLean, Joseph G. Hacia, Nancy Braverman, Erminia Di Pietro, Xuting Sun
Publikováno v:
Journal of Cellular Biochemistry. 120:3243-3258
Zellweger spectrum disorder (ZSD) results from biallelic mutations in PEX genes required for peroxisome biogenesis. PEX1-G843D is a common hypomorphic allele in the patient population that is associated with milder disease. In prior work using a PEX1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c2e1270b08c6dd56c667c371dd7847e
https://doi.org/10.1002/jcb.27591
https://doi.org/10.1002/jcb.27591