Results 31 to 40 of about 165 (150)

Pathogenic KIAA0586/TALPID3 variants are associated with defects in primary and motile cilia

iScience
Summary: Pathogenic variants in KIAA0586/TALPID3 are associated with the ciliopathy Joubert syndrome (JS). We report individuals with KIAA0586/TALPID3 variants affected by primary and motile cilia defects leading to JS and chronic destructive airway ...
Jacqueline E. Taudien, Diana Bracht, Heike Olbrich, Sebastian Swirski, Fulvio D’Abrusco, Bert Van der Zwaag, Maike Möller, Thomas Lücke, Norbert Teig, Ulrika Lindberg, Kai Wohlgemuth, Julia Wallmeier, Anja Blanque, Christos Gatsogiannis, Sebastian George, Christoph Jüschke, Marta Owczarek-Lipska, Dorothee Veer, Hester Y. Kroes, Enza Maria Valente, G. Christoph Korenke, Heymut Omran, John Neidhardt   +22 more
doaj   +1 more source

PARK(ing) time–How park deficiency affects the biological clock in a Drosophila model of Parkinson's disease

FEBS Letters, EarlyView.
Drosophila park mutants serve as a model for Parkinson's disease. We used this strain to investigate the connection between oxidative stress and the circadian clock mechanism. We showed that increased oxidative stress affects the physiology of pacemaker cells, disrupting their daily structural plasticity. Lack of rhythmic signaling from pacemaker cells
Kamila Zientara, Kinga Skoczek, Elzbieta Pyza, Milena Damulewicz   +3 more
wiley   +1 more source

DNA-damage-associated protein co-expression network in cardiomyocytes informs on tolerance to genetic variation and disease

iScience
Summary: Cardiovascular disease (CVD) is associated with genetic variants and environmental factors. A consequence of multiple risk factors is DNA damage.
Omar Darrel Johnson, Sayan Paul, José Angel Gutiérrez, William Kent Russell, Michelle Claire Ward   +4 more
doaj   +1 more source

The Role of Spastin in Axon Biology

Frontiers in Cell and Developmental Biology, 2022
Neurons are highly polarized cells with elaborate shapes that allow them to perform their function. In neurons, microtubule organization—length, density, and dynamics—are essential for the establishment of polarity, growth, and transport. A mounting body
Ana Catarina Costa, Ana Catarina Costa, Monica Mendes Sousa   +2 more
doaj   +1 more source

α‐Synuclein aggregation landscape from phase separation to neurotoxic intermediates

FEBS Letters, EarlyView.
Alpha‐synuclein aggregation in Parkinson's disease involves a complex landscape of transient intermediates, including oligomers, fibrils and liquid–liquid phase separation (LLPS). A view is emerging in which LLPS maturation into solid‐like condensates may contribute to the formation of neurotoxic species.
Silvia Arino, Giuliana Fusco, Alfonso De Simone   +2 more
wiley   +1 more source

Combined endurance and resistance exercise training alters the spatial transcriptome of skeletal muscle in young adults

iScience
Summary: Chronic exercise training substantially improves skeletal muscle function and performance. The repeated demands and stressors of each exercise bout drive coordinated molecular adaptations within multiple cell types, leading to enhanced ...
Michael J. Stec, Zachary A. Graham, Qi Su, Christina Adler, Min Ni, Valerie Le Rouzic, David R. Golann, Patrick J. Ferrara, Gabor Halasz, Mark W. Sleeman, Kaleen M. Lavin, Timothy J. Broderick, Marcas M. Bamman   +12 more
doaj   +1 more source

Modelling stem cell differentiation related processes—A practical overview for biologists

FEBS Letters, EarlyView.
Stem cell differentiation is complex and difficult to control experimentally. This review introduces suitable computational modelling approaches that can support stem cell research, from mechanistic ODE and abstract models to multiscale and deep learning methods.
Ricco Zeegelaar, Xinqi Yan, Lucas Jansen Klomp, Stefano Schivo, Janine N. Post   +4 more
wiley   +1 more source

Interferon gamma induced-ACSL5 shapes the lipidome of kidney tubular cells

iScience
Summary: Acyl-CoA synthetase long-chain family (ACSL) enzymes are critical in the activation of long-chain fatty acid. To determine the regulatory mechanisms of ACSL5 and its biological functions within the kidney tubule, we generated transcriptomic ...
Virginie Poindessous, Julio L. Sampaio, Lydia Bouidghaghen, Ivan Nemazanyy, Alexandre Pallet, Maarten Naesens, Thibaut Vaulet, Dany Anglicheau, Nicolas Pallet   +8 more
doaj   +1 more source

Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment

Molecular Oncology, EarlyView.
This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley   +1 more source

Impact of enteric neuronal loss on intestinal cell composition

iScience
Summary: Hirschsprung disease (HSCR) is a congenital disorder characterized by the absence of an enteric nervous system (ENS) in the distal gut. While the ENS is critical for normal gut function, its broader role in maintaining intestinal homeostasis ...
Naomi J.M. Kakiailatu, Wei Zhang, Laura E. Kuil, Jonathan D. Windster, Eric Bindels, Joke T.M. Zink, Michael Vermeulen, Bianca M. de Graaf, Deepavali Sahadew, Thierry P.P. van den Bosch, Demi Huijgen, Cornelius E.J. Sloots, Rene M.H. Wijnen, Robert M.W. Hofstra, Emma de Pater, Veerle Melotte, Maria M. Alves   +16 more
doaj   +1 more source