Results 81 to 90 of about 3,592 (196)

Properties of the epileptiform activity in the cingulate cortex of a mouse model of LIS1 dysfunction

, 2022
Dysfunction of the LIS1 gene causes lissencephaly, a drastic neurological disorder characterized by a deep disruption of the cortical structure. We aim to uncover alterations of the cortical neuronal networks related with the propagation of epileptiform ...
Domínguez-Sala, Eduardo, Andreu-Cervera, Abraham, Geijo-Barrientos, Emilio, Domínguez-Sala, E., Murcia-Ramón, R., Martínez, Salvador, Martín-Climent, P., Murcia-Ramón, Raquel, Andreu-Cervera, A., Martínez, S., S. Martínez, E. Domínguez-Sala, Emilio Geijo-Barrientos, A. Andreu-Cervera, R. Murcia-Ramón, P. Martín-Climent   +15 more
core   +1 more source

Overexpression of Lis1 in Different Stages of Spermatogenesis Does Not Result in an Aberrant Phenotype

Previous studies showed that in the mouse mutant Lis1(GT/GT) gene trap integration in intron 2 of Lis1 gene leads to male infertility in homozygous Lis1(GT/GT) mice. We further analyzed this line and could confirm the suggested downregulation of a testis-
Engel W, Meinhardt A, Nayernia K, Arnold HH, Jung B, Drusenheimer N   +5 more
core   +2 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

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

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

Lis1 progenitor mechanisms contributing to malformations of cortical development

, 2020
Les malformations du développement du cortex sont associées à des troubles de la prolifération des progéniteurs et de la migration neuronale. Les glies radiaires basales (bRGs), un type de progéniteur, sont limités dans les espèces lissencéphaliques mais
Penisson, Maxime
core  

Coupling PAF signaling to dynein regulation: structure of LIS1 in complex with PAF-acetylhydrolase.

, 2016
Mutations in the LIS1 gene cause lissencephaly, a human neuronal migration disorder. LIS1 binds dynein and the dynein-associated proteins Nde1 (formerly known as NudE), Ndel1 (formerly known as NUDEL), and CLIP-170, as well as the catalytic alpha dimers ...

core   +1 more source

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

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

Inactivation of a testis-specific Lis1 transcript in mice prevents spermatid differentiation and causes male infertility. [PDF]

, 2003
Lis1 protein is the non-catalytic component of platelet-activating factor acetylhydrolase 1b (PAF-AH 1B) and associated with microtubular structures. Hemizygous mutations of the LIS1 gene cause type I lissencephaly, a brain abnormality with developmental
Nayernia, K., Schweyer, S., Engel, W., Engel, Wolfgang, Arnold, H. H., Vauti, F., Meinhardt, A., Arnold, H., Chowdhury, K., Meyer, Barbara I., Schweyer, Stefan, Meyer, B., Cadenas, C., Meinhardt, Andreas, Schwandt, I.   +14 more
core   +1 more source