Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Kathrin Eberhardt"'
Autor:
Xin Chen, Thomas Dong, Yuhui Hu, Raffaella De Pace, Rafael Mattera, Kathrin Eberhardt, Marvin Ziegler, Terry Pirovolakis, Mustafa Sahin, Juan S. Bonifacino, Darius Ebrahimi-Fakhari, Steven J. Gray
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 10 (2023)
Spastic paraplegia 50 (SPG50) is an ultrarare childhood-onset neurological disorder caused by biallelic loss-of-function variants in the AP4M1 gene. SPG50 is characterized by progressive spastic paraplegia, global developmental delay, and subsequent
Externí odkaz:
https://doaj.org/article/2bba6f1c88c84947824d953a3f8dcd7e
Autor:
Kathrin Eberhardt, Hellen Jumo, Angelica D'Amore, Julian E. Alecu, Marvin Ziegler, Wardiya Afshar Saber, Mustafa Sahin, Darius Ebrahimi-Fakhari
Publikováno v:
Stem Cell Research, Vol 53, Iss , Pp 102335- (2021)
Biallelic loss-of-function variants in the subunits of the adaptor protein complex 4 lead to childhood-onset hereditary spastic paraplegia (AP-4-HSP): SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1), and SPG52 (AP4S1). Here, we describe the generation of
Externí odkaz:
https://doaj.org/article/1a2c2c1c2a2c4516bb17492ea7c051c7
Autor:
Barbara Brechmann, Sandrine Vuillaumier-Barrot, Kathrin Eberhardt, Mohammad Ali Faghihi, Jennifer Hirst, Jan De Bleecker, Lee Barrett, Stéphane Auvin, Afshin Saffari, Filippo M. Santorelli, Julian E. Alecu, Bernt Popp, Sonja Neuser, Darius Ebrahimi-Fakhari, Alexandra K Davies, Angelica D'Amore, Parham Habibzadeh, Hellen Jumo, Edward Yang, Marvin Ziegler, Mustafa Sahin
Publikováno v:
Brain Communications
Adaptor protein complex 4-associated hereditary spastic paraplegia is caused by biallelic loss-of-function variants in AP4B1, AP4M1, AP4E1 or AP4S1, which constitute the four subunits of this obligate complex. While the diagnosis of adaptor protein c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e565d14b139dcc05a846c785c59bacfe
Autor:
Edward Yang, Bernt Popp, Afshin Saffari, Sonja Neuser, Filippo M. Santorelli, Hellen Jumo, Julian E. Alecu, Marvin Ziegler, Mustafa Sahin, Kathrin Eberhardt, Lee Barrett, Darius Ebrahimi-Fakhari, Barbara Brechmann, Angelica D'Amore, Jennifer Hirst
Publikováno v:
Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics.
Autor:
Miriam Wimmer, Mustafa Sahin, Henry Houlden, Elizabeth D. Buttermore, Joseph M. Scarrott, Antje Wiesener, Agathe Roubertie, Teresa Chen, Margaret S. Robinson, Sofia T. Duarte, Thomas Bourinaris, Robert Behne, Lee Barrett, Jonathan O. Lipton, Devorah Segal, James T. Bennett, Darius Ebrahimi-Fakhari, Jennifer Hirst, Julian Teinert, Andrea Martinuzzi, Kathrin Eberhardt, Angelica D'Amore, Filippo M. Santorelli, Barbara Brechmann, Georg H. H. Borner, Sean Dwyer, Ivy Pin-Fang Chen, Alexandra K Davies, Mimoun Azzouz
Publikováno v:
Hum Mol Genet
Deficiency of the adaptor protein complex 4 (AP-4) leads to childhood-onset hereditary spastic paraplegia (AP-4-HSP): SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1) and SPG52 (AP4S1). This study aims to evaluate the impact of loss-of-function variants i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72475bec4d66828ce338e15e047d9884
https://europepmc.org/articles/PMC7001721/
https://europepmc.org/articles/PMC7001721/
Autor:
Yoshihisa Takiyama, Stefanie Brock, Jennifer Hirst, Niklas Dahl, Radka Kremlikova Pourova, Andrea Martinuzzi, Seth Perlman, Helene Verhelst, Omnia Fathy El-Rashidy, Nour Elkhateeb, Sarah I. Sheikh, Jamal Ghoumid, Erin Carmody, Georgia Xiromerisiou, Diego Miguel, James T. Bennett, Barbara Brechmann, William O. Walker, David Dacruz-Álvarez, Mathieu Anheim, Dana M. Jensen, Stefan Kölker, Uzma Shamshad, Darius Ebrahimi-Fakhari, Grace Yoon, Katharina Vill, David Bearden, Adel A. Mahmoud, Sheela Nampoothiri, Devorah Segal, Antje Wiesener, Shenela Lakhani, Joseph G. Gleeson, Chirag Patel, Angelica D'Amore, Abdelrahim Abdrabou Sadek, Marvin Ziegler, Mustafa Sahin, Toni S. Pearson, Julian Teinert, Kira A. Dies, Christopher J. Yuskaitis, Catherine L. Salussolia, Lubov Blumkin, Jonathan Baets, Laura Robelin, Daniel Ebrahimi-Fakhari, Parham Habibzadeh, Anju Shukla, Peter O. Bauer, Saskia Bulk, Afshin Saffari, Elizabeth Lim-Melia, Michael C. Kruer, Christian Beetz, Andreas Ziegler, Pankaj B. Agrawal, Thomas Bourinaris, Filippo M. Santorelli, Mireille Guillot, Abdullah Alamri, Mohammad Ali Faghihi, Kathrin Eberhardt, Thomas Smol, Henry Houlden, Nur Aydinli, Constanze Heine, Soroor Inaloo, Anaita Udwadia-Hegde, Alejandro Brea-Fernández, Yasemin Alanay, Rachana Dubey Gupta, Ayse Aksoy, Agathe Roubertie, Jens Volkmann, Basil T. Darras, Hendrik Langen, Mauricio R. Delgado, Jan Ulrich Schlump, Gregory Geisel, Anna Jansen, Somayeh Bakhtiari, Steven P. Miller, Miriam Wimmer, Maha S. Zaki, Premsai Nagabhyrava, Robert Behne, Hossein Darvish
Publikováno v:
Brain
Bi-allelic loss-of-function variants in genes that encode subunits of the adaptor protein complex 4 (AP-4) lead to prototypical yet poorly understood forms of childhood-onset and complex hereditary spastic paraplegia: SPG47 (AP4B1), SPG50 (AP4M1), SP
Autor:
Harley I. Kornblum, Bianca E. Russell, Darius Ebrahimi-Fakhari, Angelica D'Amore, Gregory Geisel, Kathrin Eberhardt, Marvin Ziegler, Mustafa Sahin
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
article-version (Version of Record) 3
ObjectiveUniparental isodisomy can lead to blended phenotypes of imprinting disorders and autosomal recessive diseases. To determine whether a complex neurodevelopmental disorder was caused by uniparental isodisomy, a detailed clinical and molecular
Autor:
Tobias Kessler, Jean-Luc Davignon, Christof Weinstock, Gerhard Jahn, Yolaine Cavignac, Kathrin Eberhardt, Christian Sinzger
Publikováno v:
Journal of General Virology. 87:1853-1862
The contribution of CD4+ T cells to control of human cytomegalovirus (HCMV) has been shown and infected tissue macrophages might contribute to this response by antigen presentation. As shown previously, CD4+ T cells recognize HCMV immediate-early ant