Article
Cell Biology
Andreas Brodehl, Stephanie Holler, Jan Gummert, Hendrik Milting
Summary: This study found that mutations in the 1A coil domain of the DES gene cause desmin filament assembly defects. This has important implications for the genetic counseling of patients carrying variants in the 1A coil domain of the DES gene.
Article
Chemistry, Multidisciplinary
C. R. DeJulius, A. Bernardo-Colon, S. Naguib, J. R. Backstrom, T. Kavanaugh, M. K. Gupta, C. L. Duvall, T. S. Rex
Summary: The study compared two polymeric microparticle formulations for sustained release of EPO-R76E, demonstrating their potential therapeutic benefits in treating optic nerve injuries.
JOURNAL OF CONTROLLED RELEASE
(2021)
Article
Medicine, General & Internal
Naoki Takegami, Akihiko Mitsutake, Tatsuo Mano, Yukako Shintani-Domoto, Atsushi Unuma, Nanaka Yamaguchi-Takegami, Hiroyuki Ishiura, Kaori Sakuishi, Masahiko Ando, Haruo Yamauchi, Minoru Ono, Shinichi Morishita, Jun Mitsui, Jun Shimizu, Shoji Tsuji, Tatsushi Toda
Summary: Desminopathy is a cardiac and skeletal myopathy caused by disease-causing variants in the DES gene. In this report, we describe a 28-year-old Japanese patient who was initially diagnosed with sporadic hypertrophic cardiomyopathy with atrioventricular block and developed weakness in the soft palate and extremities. Genetic testing confirmed a de novo mutation of the DES gene. The challenging molecular diagnosis of desminopathy makes the pathological findings of endomyocardial proteinase K-resistant desmin aggregates helpful in clinical practice.
Article
Biochemistry & Molecular Biology
Bence Hajdu, Luca Csabai, Margita Marton, Marianna Holczer, Tamas Korcsmaros, Orsolya Kapuy
Summary: This study explores the regulatory network of autophagy and identifies 16 potential regulators that could be targeted for anti-cancer and anti-aging therapies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Multidisciplinary Sciences
Minji Kim, Remigiusz A. Serwa, Lukasz Samluk, Ida Suppanz, Agata Kodron, Tomasz M. Stepkowski, Praveenraj Elancheliyan, Biniyam Tsegaye, Silke Oeljeklaus, Michal Wasilewski, Bettina Warscheid, Agnieszka Chacinska
Summary: Mitochondrial dysfunction leads to the accumulation of mitochondrial proteins in the cytosol. The immunoproteasome subunit PSMB9 promotes protein degradation to maintain cellular protein homeostasis. Understanding the interplay between cellular proteostasis and mitochondrial dysfunction is important for preventing neurodegenerative diseases.
NATURE COMMUNICATIONS
(2023)
Article
Cell Biology
Niharika Amireddy, Vandana Dulam, Shweta Kaul, Rajeswari Pakkiri, Shasi V. Kalivendi
Summary: Upregulation and aggregation of a-synuclein is a key factor in Parkinson's disease, and mitochondrial dysfunction is believed to be a contributing factor. The drug nitazoxanide has been found to enhance mitochondrial function and autophagy. This study demonstrates that nitazoxanide activates cellular autophagy and clears a-synuclein aggregates through mitochondrial uncoupling, AMPK activation, and JNK activation.
CELLULAR SIGNALLING
(2023)
Article
Biochemical Research Methods
Mona Moradi Barzadd, Magnus Lundqvist, Claire Harris, Magdalena Malm, Anna-Luisa Volk, Niklas Thalen, Veronique Chotteau, Luigi Grassi, Andrew Smith, Marina Leal Abadi, Giulia Lambiase, Suzanne Gibson, Diane Hatton, Johan Rockberg
Summary: Transcriptome analysis identified biological causes of aggregation in therapeutic bispecific antibodies and upregulated processes such as proteasomal degradation, unfolded protein response and autophagy were correlated with reduced protein aggregation. Fourteen candidate genes were co-expressed in stable clones, with four genes found to significantly lower aggregation in stable producers.
Review
Neurosciences
Andreas Muller-Schiffmann, Svenja Trossbach, Vishwanath R. Lingappa, Carsten Korth
Summary: Viruses evolve much faster than host cells, allowing them to exploit host cellular machinery and induce cellular pathology, which can be leveraged to decipher mechanisms of non-viral diseases. This can be particularly useful for drug discovery in cases where virus-induced cellular pathology resembles that of other diseases like neurodegenerative diseases.
TRENDS IN NEUROSCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Debasish Kumar Ghosh, Prajna Udupa, Akshaykumar Nanaji Shrikondawar, Gandham SriLakshmi Bhavani, Hitesh Shah, Akash Ranjan, Katta M. Girisha
Summary: Aberrant forms of endoplasmic reticulum (ER)-resident chaperones are associated with protein quality control loss in rare diseases. A novel mutation (p.Asp233Asn) in the ER localization signal of MESD was identified in a patient with osteogenesis imperfecta (OI) type XX using whole exome sequencing. The mutant MESDD233N mislocalizes to the cytoplasm, disrupting ER proteostasis and leading to improper folding and aggregation of proteins, including LRP5 and type I collagen. Consequently, there is impaired WNT signaling and cytosolic accumulation of type I collagen aggregates, affecting cell-matrix interactions and cellular stress response.
Article
Biotechnology & Applied Microbiology
Jong Hun An, Sang-Eun Hong, Seong-Lan Yu, Jaeku Kang, Chang Gyo Park, Hoi Young Lee, Sung-Ki Lee, Dong Chul Lee, Hwan-Woo Park, Won-Min Hwang, Sung-Ro Yun, Yohan Park, Moon Hyang Park, Kuk Ro Yoon, Se-Hee Yoon
Summary: Polyethyleneglycol-capped Ceria-Zirconia antioxidant nanoparticles (PEG-CZNPs) can reduce Gb3 accumulation in the cellular models of Fabry disease by enhancing autophagy flux, improving intracellular inflammation and apoptosis, and attenuating pro fibrotic cytokines in podocytes. These particles also reduce reactive oxygen species (ROS) levels and preserve podocyte characteristics and autophagy flux functions in an animal model of FD, demonstrating their potential as a new treatment for storage diseases.
JOURNAL OF NANOBIOTECHNOLOGY
(2022)
Article
Toxicology
Ponnusamy Manogaran Gopinath, Krishna Sundar Twayana, Palaniyandi Ravanan, John Thomas, Amitava Mukherjee, David F. Jenkins, Natarajan Chandrasekaran
Summary: This study found that nano-sized plastic particles in cosmetic products can adhere to the skin in a short time and have toxic effects on cells, leading to cell growth inhibition and oxidative stress. Further research is needed to conduct 3D models to unravel the toxicity of nano-plastics and the cellular protective mechanisms.
PARTICLE AND FIBRE TOXICOLOGY
(2021)
Article
Neurosciences
Lucia Cragnaz, Greta Spinelli, Laura De Conti, Emilie A. Bureau, Janet Brownlees, Fabian Feiguin, Valentina Romano, Natasa Skoko, Raffaella Klima, Catherine A. Kettleborough, Francisco E. Baralle, Marco Baralle
Summary: This study identified a potential therapeutic pathway for clearing TDP-43 aggregates and restoring functionality, using a cellular model for high-throughput screening. The importance of a two-stage, in vitro and in vivo model system for cross-checking small molecule treatments in TDP-43 proteinopathies was emphasized.
NEUROBIOLOGY OF DISEASE
(2021)
Article
Biochemistry & Molecular Biology
Masaaki Ito, Takashi Yurube, Yutaro Kanda, Yuji Kakiuchi, Yoshiki Takeoka, Toru Takada, Ryosuke Kuroda, Kenichiro Kakutani
Summary: The study demonstrates that autophagy in human disc cells plays a protective role against cellular apoptosis and senescence, rather than affecting extracellular matrix degradation.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Chemistry, Medicinal
Tao Long, Xue Chen, Da-Lian Qin, Yun-Fei Zhu, Yu-Jia Zhou, Yan-Ni He, Hai-Jun Fu, Yong Tang, Lu Yu, Fei-Hong Huang, Long Wang, Chong-Lin Yu, Betty Yuen-Kwan Law, Jian-Ming Wu, An-Guo Wu, Xiao-Gang Zhou
Summary: This study aimed to identify potential anti-Alzheimer's disease (AD) candidates from natural sources using a Caenorhabditis elegans AD-like model and explore their mechanisms of action. It was found that the ethanol extract of air-dried fruits of Luffa cylindrica (LCE) inhibited AD pathology in C. elegans models and its anti-AD effects were mediated through autophagy activation.
PHYTOTHERAPY RESEARCH
(2023)
Article
Plant Sciences
Atiyyah Bano, Zahra Noreen, Fariha Tabassum, Fizza Zafar, Madiha Rashid, Muhammad Aslam, Anis Ali Shah, Adnan Noor Shah, Mariusz Jaremko, Noura Alasmael, Nader R. Abdelsalam, Mohamed E. Hasan
Summary: This study investigated the effects of salt stress and nitric oxide on different ecotypes of Brassica rapa. The results showed that salt stress reduced plant biomass, while nitric oxide treatment increased growth and antioxidant capacity. Nitric oxide application improved the growth performance under salt stress for both ecotypes. Therefore, the study suggests that the molecular mechanisms associated with nitric oxide-induced stress tolerance in plants can contribute to achieving sustainability in agriculture under changing climate conditions.
FRONTIERS IN PLANT SCIENCE
(2022)
Article
Neurosciences
Nicole Creau, Eva Cabet, Fabrice Daubigney, Benoit Souchet, Soumia Bennai, Jean Delabar
Article
Biochemistry & Molecular Biology
Laurianne Davignon, Claire Chauveau, Cedric Julien, Corinne Dill, Isabelle Duband-Goulet, Eva Cabet, Brigitte Buendia, Alain Lilienbaum, John Rendu, Marie Christine Minot, Agnes Guichet, Valerie Allamand, Nathalie Vadrot, Julien Faure, Sylvie Odent, Leila Lazaro, Jean Paul Leroy, Pascale Marcorelles, Odile Dubourg, Ana Ferreiro
HUMAN MOLECULAR GENETICS
(2016)
Article
Engineering, Chemical
Ali Saad, Eva Cabet, Alain Lilienbaum, Sena Hamadi, Manef Abderrabba, Mohamed M. Chehimi
JOURNAL OF THE TAIWAN INSTITUTE OF CHEMICAL ENGINEERS
(2017)
Article
Electrochemistry
Megan Coates, Eva Cabet, Sophie Griveau, Tebello Nyokong, Fethi Bedioui
ELECTROCHEMISTRY COMMUNICATIONS
(2011)
Article
Biochemistry & Molecular Biology
Nathalie Vadrot, Isabelle Duband-Goulet, Eva Cabet, Wikayatou Attanda, Alice Barateau, Patrick Vicart, Fabien Gerbal, Nolwenn Briand, Corinne Vigouroux, Anja R. Oldenburg, Eivind G. Lund, Philippe Collas, Brigitte Buendia
HUMAN MOLECULAR GENETICS
(2015)
Article
Oncology
Florence Delort, Bertrand-David Segard, Coralie Hakibilen, Fany Bourgois-Rocha, Eva Cabet, Patrick Vicart, Meng-Er Huang, Guilhem Clary, Alain Lilienbaum, Onnik Agbulut, Sabrina Batonnet-Pichon
EXPERIMENTAL CELL RESEARCH
(2019)
Article
Clinical Neurology
Rocio N. Villar-Quiles, Fabio Catervi, Eva Cabet, Raul Juntas-Morales, Casie A. Genetti, Teresa Gidaro, Asuman Koparir, Adnan Yuksel, Sandra Coppens, Nicolas Deconinck, Emma Pierce-Hoffman, Xaviere Lornage, Julien Durigneux, Jocelyn Laporte, John Rendu, Norma B. Romero, Alan H. Beggs, Laurent Servais, Mireille Cossee, Montse Olive, Johann Bohm, Isabelle Duband-Goulet, Ana Ferreiro
ANNALS OF NEUROLOGY
(2020)
Article
Biochemistry & Molecular Biology
Anne Filipe, Alexander Chernorudskiy, Sandrine Arbogast, Ersilia Varone, Rocio-Nur Villar-Quiles, Diego Pozzer, Maryline Moulin, Stefano Fumagalli, Eva Cabet, Swati Dudhal, Maria-Grazia De Simoni, Raphael Denis, Nathalie Vadrot, Corinne Dill, Matteo Giovarelli, Luke Szweda, Clara De Palma, Paolo Pinton, Carlotta Giorgi, Carlo Viscomi, Emilio Clementi, Sonia Missiroli, Simona Boncompagni, Ester Zito, Ana Ferreiro
Summary: SEPN1-related myopathy is a muscle disorder caused by mutations in the SEPN1 gene, characterized by muscle weakness and fatigue. Research has shown that SEPN1 is enriched at the mitochondria-associated membranes (MAM) and is necessary for calcium transients between the ER and mitochondria, as well as for the integrity of ER-mitochondria contacts. Loss of SEPN1 is associated with alterations in body composition, muscle weakness, impaired ER-mitochondria contacts, and low ATP levels.
CELL DEATH AND DIFFERENTIATION
(2021)
Article
Cardiac & Cardiovascular Systems
Harald Herrmann, Eva Cabet, Nicolas R. Chevalier, Julia Moosmann, Dorothea Schultheis, Jan Haas, Mirjam Schowalter, Carolin Berwanger, Veronika Weyerer, Abbas Agaimy, Benjamin Meder, Oliver J. Muller, Hugo A. Katus, Ursula Schlotzer-Schrehardt, Patrick Vicart, Ana Ferreiro, Sven Dittrich, Christoph S. Clemen, Alain Lilienbaum, Rolf Schroeder
Article
Chemistry, Physical
Tarik Matrab, Maud Save, Bernadette Charleux, Jean Pinson, Eva Cabet-Deliry, Alain Adenier, Mohamed M. Chehimi, Michel Delamar
Article
Chemistry, Physical
Alain Adenier, Nicole Barre, Eva Cabet-Deliry, Annie Chausse, Sophie Griveau, Florence Mercier, Jean Pinson, Christine Vautrin-Ul
Article
Chemistry, Multidisciplinary
T Matrab, MM Chehimi, C Perruchot, A Adenier, A Guillez, M Save, B Charleux, E Cabet-Deliry, J Pinson
Review
Chemistry, Physical
A Adenier, E Cabet-Deliry, A Chaussé, S Griveau, F Mercier, J Pinson, C Vautrin-Ul
CHEMISTRY OF MATERIALS
(2005)
Article
Polymer Science
F Mazuel, C Bui, B Charleux, E Cabet-Deliry, MA Winnik