Is this you? As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work.
Claim your profile
Articles by Diran Herebian
Accelerating Leigh syndrome drug discovery through deep learning screening in brain organoids
Abstract Leigh syndrome (Leigh) is an untreatable mitochondrial disorder characterized by lactic acidosis and basal ganglia and midbrain pathology, leading to psychomotor regression and early death. We previously uncovered impaired neuronal morphogenesis in Leigh cerebral organoids carrying SURF1 gene variants. Leveraging this phenotype, we here develop a deep learning algorithm tailored for cell type-specific drug repurposing screening.
Pluripotent stem-cell-based screening uncovers sildenafil as a mitochondrial disease therapy
|
Results To determine whether MMP hyperpolarization observed in LS NPCs carrying the m.9185T>C variant in the MT-ATP6 gene27 represented a robust phenotype, we generated NPCs from 7 LS patients carrying different MT-ATP6 variants (3 m.9185T>C, 1 m.8993T>C, 2 m.8993T>G, and one m.9176T>G) (Figure S1A).27,33,34,35,36 For controls, we used NPCs from 8 healthy individuals, including 2 patients’ mothers carrying MT-ATP6 variants at low heteroplasmy (<2%) (Figure S10H).
By Annika Zink, Dao-Fu Dai, Annika Wittich, Marie-Thérèse Henke, Giulia Pedrotti, Sonja Heiduschka, Guillem Santamaria, Tancredi Massimo Pentimalli, Christian Brueser, Sofia Notopoulou, Abdul Rahim Umar, Aleksandra Zhaivoron, Laura Petersilie, Caleb Jerred, Fabian Schumacher, Jan Keller-Findeisen, Agnieszka Rybak-Wolf, Daniel Stach, Jeanette Reinshagen, Undine Haferkamp, Andrea Zaliani, Liliya Euro, Alessia Di Donfrancesco, Enrica Cappellozza, Marta Suarez Cubero, Mario G. Pavez-Giani, David Meierhofer, Alan Foley Verified, Diran Herebian, Monica Moresco, Alessandra Maresca, Ilaria Decimo, Francesco De Sanctis, Annalisa Adamo, Roberto Duchi, Andrea Perota, Cesare Galli, Burkhard Kleuser, Lukas Cyganek, Chris Mühlhausen, Lars Schlotawa, Valeria Tiranti, Ertan Mayatepek, Ildikò Szabò, Chiara La Morgia, Thomas Klopstock, Valerio Carelli, Felix Distelmaier, Andrea Rossi, Nikolaus Rajewsky, Ghanim Ullah, Stefan Jakobs, Christine Rose, Spyros Petrakis, Frank Edenhofer, Werner J.H. Koopman, Pawel Lisowski, Anu Suomalainen, Dario Brunetti, Antonio del Sol, Emanuela Bottani, Ole Pless, Markus Schuelke, Alessandro Prigione, Jesper Bergmans, Louis Anton Neu, Kim Krieg, Chiara Santanatoglia, Oleh Bakumenko, Susanne Morales-Gonzalez, Isabella Tolle, Daniele Bonesso, Giulia Cecchetto, Sakurako Nagumo Wong, Merel J.W. Adjobo-Hermans, Maria Barandalla, Marco Scaglia
|
Cell Press
Verified
Controlling mitochondrial membrane architecture via MIC60 determines viral replication to promote anti-viral immunity
|
Keywords immunometabolism viral infection inner mitochondrial membrane MIC60 MICOS mitochondria innate immunity BMDC itaconate Research topic(s) CP: Microbiology CP: Cell biology Introduction Viral infections remain a global health problem with countless infections worldwide and potential risks for outbreaks causing enormous harm to humans and society. Viruses hijack the host cells to propagate and are therefore known to influence cellular processes.
By Ichiro Katahira, Nina A. Liebrand, Michal Gorzkiewicz, Niklas Paul Klahm, Julia Werner, Karina Stephanie Krings, Sarah Orywol, Tobias Lautwein, Karl Köhrer, Diran Herebian, Ertan Mayatepek, Max Anstötz, Ann Kathrin Bergmann, Arun Kumar Kondadi, Haifeng Xu, Aleksandra A. Pandyra, Takumi Kobayashi, Dirk Brenner, Thomas Flöss, Ulrich Kalinke, Andreas Reichert, Philipp Lang
|
Cell Reports
Verified
The bile acid receptor TGR5 inhibits platelet activation and thrombus formation
Abstract Liver failure and cirrhosis are characterized by abnormal hemostasis with aberrant platelet activation. In particular, the consequences of cholestatic liver disease and molecular mechanisms, including the role of bile acids leading to impaired platelet responses, are not well understood. Here, we demonstrate that bile acids inhibit human and murine platelet activation, adhesion and spreading, leading to reduced thrombus formation under flow conditions.
Blue Diaper Syndrome and PCSK1 Mutations
Blue diaper syndrome (BDS) (Online Mendelian Inheritance in Man number 211000) is an extremely rare disorder that was first described in 1964. The characteristic finding is a bluish discoloration of urine spots in the diapers of affected infants. Additional clinical features of the first described patients included diarrhea, inadequate weight gain, hypercalcemia, and nephrocalcinosis. An intestinal defect of tryptophan absorption was postulated as the underlying pathology.
Two Case Reports of Successful Treatment of Cholestasis With Steroids in Patients With PFIC-2
Mutations in the gene encoding the canalicular bile salt export pump (BSEP) can result in progressive familial intrahepatic cholestasis type 2 (PFIC-2). Treatment options are limited, and PFIC-2 often necessitates liver transplantation. We report on a young woman and a boy who clinically presented with PFIC-2 phenotypes and dramatically improved with steroid treatment. Gene sequencing of ABCB11 encoding for BSEP revealed 2 relevant mutations in both patients.
Show More
loading
Actions
Is this you?
As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work.Get in touch with Diran
Contact Diran, search articles and posts on X, monitor coverage, and track replies from one place.
Learn more about Muck Rack