Kathrin Eberhardt
Boston Children's Hospital
4 Papers
6 Citations
Kathrin Eberhardt is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Hereditary spastic paraplegia & Signal transducing adaptor protein. The author has an hindex of 2, co-authored 4 publications. Previous affiliations of Kathrin Eberhardt include Harvard University & University of California, Los Angeles.
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Papers
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
Darius Ebrahimi-Fakhari,Julian Teinert,Julian Teinert,Robert Behne,Robert Behne,Miriam Wimmer,Angelica D'Amore,Kathrin Eberhardt,Barbara Brechmann,Marvin Ziegler,Dana M. Jensen,Premsai Nagabhyrava,Gregory Geisel,Erin Carmody,Uzma Shamshad,Kira A. Dies,Christopher J. Yuskaitis,Catherine L. Salussolia,Daniel Ebrahimi-Fakhari,Daniel Ebrahimi-Fakhari,Toni S. Pearson,Afshin Saffari,Andreas Ziegler,Stefan Kölker,Jens Volkmann,Antje Wiesener,David Bearden,Shenela Lakhani,Devorah Segal,Anaita Udwadia-Hegde,Andrea Martinuzzi,Jennifer Hirst,Seth Perlman,Yoshihisa Takiyama,Georgia Xiromerisiou,Katharina Vill,William O. Walker,Anju Shukla,Rachana Dubey Gupta,Niklas Dahl,Ayse Aksoy,Helene Verhelst,Mauricio R. Delgado,Radka Kremlikova Pourova,Abdelrahim Abdrabou Sadek,Nour Elkhateeb,Lubov Blumkin,Alejandro Brea-Fernández,David Dacruz-Álvarez,Thomas Smol,Jamal Ghoumid,Diego Miguel,Constanze Heine,Jan Ulrich Schlump,Hendrik Langen,Jonathan Baets,Saskia Bulk,Hossein Darvish,Somayeh Bakhtiari,Michael C. Kruer,Elizabeth Lim-Melia,Nur Aydinli,Yasemin Alanay,Omnia Fathy El-Rashidy,Sheela Nampoothiri,Chirag Patel,Christian Beetz,Peter O. Bauer,Grace Yoon,Mireille Guillot,Steven P. Miller,Thomas Bourinaris,Henry Houlden,Laura Robelin,Mathieu Anheim,Abdullah Alamri,Adel A. Mahmoud,Soroor Inaloo,Parham Habibzadeh,Mohammad Ali Faghihi,Mohammad Ali Faghihi,Anna Jansen,Stefanie Brock,Agathe Roubertie,Basil T. Darras,Pankaj B. Agrawal,Filippo M. Santorelli,Joseph G. Gleeson,Maha S. Zaki,Sarah I. Sheikh,James T. Bennett,Mustafa Sahin +91 more
TL;DR: It is found that the presence of epilepsy, which manifested before the age of 3 years in the majority of patients, was associated with worse motor outcomes and the relationship between disease severity as measured by several rating scales and disease duration.
Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking
Robert Behne,Julian Teinert,Julian Teinert,Miriam Wimmer,Angelica D'Amore,Alexandra K Davies,Alexandra K Davies,Joseph M. Scarrott,Kathrin Eberhardt,Barbara Brechmann,Ivy Pin-Fang Chen,Elizabeth D. Buttermore,Lee Barrett,Sean Dwyer,Teresa Chen,Jennifer Hirst,Antje Wiesener,Devorah Segal,Andrea Martinuzzi,Sofia T. Duarte,James T. Bennett,Thomas Bourinaris,Henry Houlden,Agathe Roubertie,Filippo M. Santorelli,Margaret S. Robinson,Mimoun Azzouz,Jonathan O. Lipton,Jonathan O. Lipton,Georg H. H. Borner,Mustafa Sahin,Darius Ebrahimi-Fakhari +31 more
TL;DR: Examining the downstream effects of ATG9A mislocalization, it is found that autophagic flux was intact in patient-derived fibroblasts both under nutrient-rich conditions and when autophagy is stimulated, suggesting a neuron-specific alteration in autophagosome turnover.
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High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia.
Darius Ebrahimi-Fakhari,Julian E. Alecu,Barbara Brechmann,Barbara Brechmann,Marvin Ziegler,Marvin Ziegler,Kathrin Eberhardt,Hellen Jumo,Angelica D'Amore,Parham Habibzadeh,Mohammad Ali Faghihi,Jan De Bleecker,Sandrine Vuillaumier-Barrot,Stéphane Auvin,Filippo M. Santorelli,Sonja Neuser,Bernt Popp,Edward Yang,Lee Barrett,Alexandra K Davies,Afshin Saffari,Afshin Saffari,Jennifer Hirst,Mustafa Sahin +23 more
- 01 Jan 2021
TL;DR: In this paper, the authors used patient-derived fibroblasts to establish a functional assay that measures the subcellular localization of ATG9A, a transmembrane protein that is sorted by adaptor protein complex 4.
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Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7.
Marvin Ziegler,Bianca E. Russell,Kathrin Eberhardt,Gregory Geisel,Angelica D'Amore,Mustafa Sahin,Harley I. Kornblum,Darius Ebrahimi-Fakhari +7 more
TL;DR: In this paper, the authors report a 4-year-old female with a blended, complex phenotype of Silver-Russell syndrome (SRS) and hereditary spastic paraplegia type 50 (SPG50) caused by total maternal isodisomy of chromosome 7 (UPiD(7)mat) and a loss-of-function variant in AP4M1 (NM_00472.3: c.59-1G>C, IVS1-1g>C).