Results 71 to 80 of about 3,592 (196)

Lis1 mutation prevents basal radial glia-like cell production in the mouse

, 2021
International audienceAbstract Human cerebral cortical malformations are associated with progenitor proliferation and neuronal migration abnormalities. Progenitor cells include apical radial glia, intermediate progenitors and basal (or outer) radial glia
Belvindrah, Richard, Wang, Shengming, Jin, Mingyue, Penisson, Maxime, Francis, Fiona, Hirotsune, Shinji, Shengming Wang, Fiona Francis, Mingyue Jin, Richard Belvindrah, Shinji Hirotsune, Maxime Penisson   +11 more
core   +1 more source

Cytoplasmic dynein and its regulatory proteins in Golgi pathology in nervous system disorders

Frontiers in Neuroscience, 2015
The Golgi apparatus is a dynamic organelle involved in processing and sorting of lipids and proteins. In neurons, the Golgi apparatus is important for the development of axons and dendrites and maintenance of their highly polarized morphology.
Dick eJaarsma, Casper eHoogenraad
doaj   +1 more source

GENOTYPE-PHENOTYPE CORRELATION IN CASES WITH LISSENCEPHALY SPECTRUM

Sabiad, 2022
Objective: In this study, we aimed to evaluate six cases diagnosed with lissencephaly in terms of the genotype-phenotype correlation. Materials and Methods: Six cases with lissencephaly, which were followed up in our outpatient clinic, were included in ...
Ayça Dilruba Aslanger, Zehra Oya Uyguner, Birsen Karaman, Seher Başaran, Hülya Kayserili Karabey   +4 more
doaj   +1 more source

Lipid Droplet‐Localized Spindle Apparatus Coiled‐Coil Protein 1 Regulates Lipid Droplet Distribution

Advanced Science, Volume 13, Issue 14, 9 March 2026.
SPDL1‐L, a long isoform of SPDL1, is identified as a bona fide lipid droplet‐associated protein that acts as a dynein adaptor to drive perinuclear clustering of lipid droplets. By linking lipid droplets to the microtubule network, SPDL1‐L extends the function of SPDL1 beyond mitosis and contributes to lipid droplet organization and nuclear remodeling ...
Honggang Su, Huimin Pan, Yaqiang Liu, Wei Wang, Yang Jiao, Yumo Hang, Xiahe Huang, Yong E. Zhang, Yuhang Chen, Mei Ding, Xun Huang   +10 more
wiley   +1 more source

Motor‐Assisted Co‐Migration of Intracellular Organelles and Microtubules as a Mechanism for Directed Cargo Transport

BioEssays, Volume 48, Issue 3, March 2026.
Directional intracellular cargo transport is traditionally attributed to motor stepping along stationary microtubule (MT) tracks. We propose a complementary mechanism of cargo co‐migration with moving MTs. This mode requires cargo–MT tethering and directed MT motion.
Chuying Zhou, Mineko Kengaku
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

Lipid Metabolism‐Driven CNS Repair via Targeted EV Delivery of PAF to Neurons

Journal of Extracellular Vesicles, Volume 15, Issue 2, February 2026.
Encapsulation within GWEVs stabilizes platelet‐activating factor (PAF), prevents peripheral inflammation and enables targeted delivery across the blood–brain barrier. In the brain, GWEVs localize to injury sites and deliver PAF to neurons, where PAFAH1B1‐dependent cytoskeletal remodelling promotes repair, supporting GWEVs as a therapeutic platform for ...
Shih‐Yin Chen, Jing‐Ya Hsu, Chen‐Fu Lo, Yu‐Wei Liu, Wei‐Neng Liao, Wen‐Ting Luo, Yu‐Ju Chen, Jui‐Ping Li, Jen‐Kun Chen, Lun Kelvin Tsou, Hua‐Jung Li   +10 more
wiley   +1 more source

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

Analysis of lissencephaly‐causing LIS1 mutations

European Journal of Biochemistry, 1999
Mutations in the LIS1 gene may result in severe abnormalities of brain cortical layering known as lissencephaly. Most lissencephaly‐causing LIS1 mutations are deletions that encompass the entire gene, therefore the mechanism of the disease is regarded as haploinsufficiency.
T, Sapir, M, Eisenstein, H A, Burgess, D, Horesh, A, Cahana, J, Aoki, M, Hattori, H, Arai, K, Inoue, O, Reiner   +9 more
openaire   +3 more sources

LIS1 and dynein motor function in neuronal migration and development [PDF]

Genes & Development, 2001
Neuronal migration has been studied extensively for over 30 years in diverse mammalian species from the mouse to human. The sequence of events that occurs during cortical development is shared by all of these species (for reviews, see Gleeson and Walsh 2000; Walsh and Goffinet 2000).
A, Wynshaw-Boris, M J, Gambello
openaire   +2 more sources