Results 61 to 70 of about 2,739 (166)

Primed to Burst: Corepressors Coordinate Transcriptional Activation and Efficient Switching Between Cell States

BioEssays, Volume 48, Issue 1, January 2026.
We hypothesize that the TPL corepressor (and likely others) acts as a transcriptional linchpin, stabilizing a state similar yet distinct from the metazoan paused state by recruiting Mediator and other components needed to initiate and coordinate transcriptional bursts across multiple genes.
Alexander R. Leydon, Jennifer L. Nemhauser   +1 more
wiley   +1 more source

LIS1-Related Isolated Lissencephaly [PDF]

Archives of Neurology, 2009
With the largest data set of patients with LIS1-related lissencephaly, the major cause of posteriorly predominant lissencephaly related to either LIS1 mutation or intragenic deletion, described so far, we aimed to refine the spectrum of neurological and radiological features and to assess relationships with the genotype.Retrospective study.
Saillour, Yoann, Carion, Nathalie, Quelin, Chloe, Leger, Pierre-Louis, Boddaert, Nathalie, Elie, Caroline, Toutain, Annick, Mercier, Sandra, Barthez, Marie Anne, Milh, Mathieu, Joriot, Sylvie, Des Portes, Vincent, Philip, Nicole, Broglin, Dominique, Roubertie, Agathe, Pitelet, Gaëlle, Moutard, Marie Laure, Pinard, Jean-Marc, Cancès, Clément, Cances, Claude, Kaminska, Anna, Chelly, Jamel, Beldjord, Chérif, Bahi-Buisson, Nadia   +23 more
openaire   +3 more sources

Clinical and genetic landscape of epilepsies with absence seizures and single‐gene etiology

Epilepsia, Volume 67, Issue 1, Page 272-290, January 2026.
Abstract Objective To characterize the clinical, electroencephalographic, and genetic features of epilepsies featuring absence seizures within monogenic etiology, highlighting the diagnostic, treatment and prognostic implications. Methods We conducted a retrospective, multicenter study including patients with monogenic epilepsies and ...
Simona Balestrini, Ilaria Galli, Maria Luisa Ricci, Elena Parrini, Davide Mei, Mario Mastrangelo, Francesco Pisani, Corinna Filippi, Lucio Giordano, Elisabetta Cesaroni, Carla Marini, Emanuele Cerulli Irelli, Carlo di Bonaventura, Marica Rubino, Antonietta Coppola, Jacopo Proietti, Tommaso Lo Barco, Francesca Darra, Laura Licchetta, Francesca Bisulli, Marco Perulli, Domenica Battaglia, Angela De Dominicis, Marina Trivisano, Nicola Specchio, Roberta Solazzi, Davide Caputo, Laura Canafoglia, LICE Collaborative group, Carmen Barba, Emanuele Bartolini, Pia Bernardo, Maria Paola Canevini, Gaetano Cantalupo, Susanna Casellato, Mara Cavallin, Ilaria Contaldo, Alessandro Ferretti, Maria Luigia Gambardella, Tiziana Granata, Giuliana Lentini, Anna Luchetti, Federico Melani, Pasquale Parisi, Simona Pellacani, Laura Pietrangelo, Tiziana Pisano, Ilaria Onida, Emilia Ricci, Aglaia Vignoli, Renzo Guerrini   +50 more
wiley   +1 more source

Postnatal Mouse Brain Region‐Resolved Peptidomic Resource of Conditional Ndel1 Loss: Comparison of Acidic and Alcoholic Extraction Strategies

Journal of Neurochemistry, Volume 169, Issue 12, December 2025.
The Ndel1 protein is crucial for neurodevelopment, but its role in the brain peptidome is unknown. Here we compared the peptidome of Ndel1 conditional knockout (Ndel1_cKO) mice with controls (CTRL) in four brain regions. Peptides were extracted using acidic (Acetic Acid, AcOH) and organic (Methanol, MeOH) methods and analyzed by Liquid Chromatography ...
João V. Nani, Jackelinne Yuka Hayashi, Joana D. Campeiro, Guilherme Araújo Câmara, Atsushi Saito, William Y. Oyadomari, Akira Sawa, Atsushi Kamiya, Alexandre K. Tashima, Mirian A. F. Hayashi   +9 more
wiley   +1 more source

Diagnosis and treatment of occipital brain lesions in children

Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1409-1420, November 2025.
Occipital brain lesions in children represent a diagnostic challenge due to the large spectrum of etiologies and overlapping clinical features. This review analyses common and less common causes of occipital brain lesions in children, including malformative, vascular, genetic/metabolic, infectious, inflammatory, and neoplastic conditions.
Luca Bartolini, Giulia Savoca, Matteo Tassone, Tiziana Metitieri, Renzo Guerrini   +4 more
wiley   +1 more source

Malformations of cortical development: Embryology and epilepsy

Epilepsia, Volume 66, Issue 10, Page 3642-3655, October 2025.
Abstract One in seven patients with focal epilepsy has a malformation of cortical development (MCD) as underlying cause. Understanding normal cortical development combined with knowledge of where, when, and what goes wrong in different types of MCD provides insight into the mechanisms of epileptogenesis.
M. Christianne Hoeberigs, Simon Tousseyn, on behalf of the ACE Study Group, Gwendolyn de Bruyn, Albert Colon, Jim Dings, Marc Hendriks, Danny Hilkman, Christianne Hoeberigs, Jochem van der Pol, Lotte de Jong, Kim Rijkers, Sylvia Klinkenberg, Vivianne van Kranen Mastenbroek, Jeske Nelissen, Pieter Kubben, Walter M. Palm, Rob P. W. Rouhl, Remco Santegoeds, Olaf Schijns, Ilse van Straaten, Marielle Vlooswijk, Louis Wagner, Dorien Weckhuysen   +23 more
wiley   +1 more source

A role for cytoplasmic dynein and LIS1 in directed cell movement [PDF]

The Journal of Cell Biology, 2003
Cytoplasmic dynein has been implicated in numerous aspects of intracellular movement. We recently found dynein inhibitors to interfere with the reorientation of the microtubule cytoskeleton during healing of wounded NIH3T3 cell monolayers. We now find that dynein and its regulators dynactin and LIS1 localize to the leading cell cortex during this ...
Dujardin, Denis L., Barnhart, Lora E., Stehman, Stephanie A., Gomes, Edgar R., Gundersen, Gregg G., Vallee, Richard B.   +5 more
openaire   +2 more sources

Aetiopathogenesis of infantile epileptic spasms syndrome and mechanisms of action of adrenocorticotrophin hormone/corticosteroids in children: A scoping review

Developmental Medicine &Child Neurology, Volume 67, Issue 8, Page 1004-1025, August 2025.
Why does infantile epileptic spasms syndrome (IESS) occur with a variety of underlying conditions and why does it respond to adrenocorticotrophin hormone (ACTH)/corticosteroids? Our scoping review summarizes five hypotheses from the literature: gene/epigenetic regulation, stress/HPA axis activation, neuroinflammation/immune function, altered neuronal ...
Emily A. Innes, Velda X. Han, Shrujna Patel, Michelle A. Farrar, Deepak Gill, Shekeeb S. Mohammad, Russell C. Dale   +6 more
wiley   +1 more source

NudEL targets dynein to microtubule ends through LIS1 [PDF]

Nature Cell Biology, 2005
Dynein is a minus-end-directed microtubule motor with critical roles in mitosis, membrane transport and intracellular transport. Several proteins regulate dynein activity, including dynactin, LIS1 (refs 2, 3) and NudEL (NudE-like). Here, we identify a NUDEL homologue in budding yeast and name it Ndl1. The ndl1delta null mutant shows decreased targeting
Jun, Li, Wei-Lih, Lee, John A, Cooper
openaire   +2 more sources

Stress-Induced CDK5 Activation Disrupts Axonal Transport via Lis1/Ndel1/Dynein

Cell Reports, 2015
Axonal transport is essential for neuronal function, and defects in transport are associated with multiple neurodegenerative diseases. Aberrant cyclin-dependent kinase 5 (CDK5) activity, driven by the stress-induced activator p25, also is observed in ...
Eva Klinman, Erika L.F. Holzbaur
doaj   +1 more source