Results 51 to 60 of about 3,592 (196)
Lissencephaly gene (LIS1) expression in the CNS suggests a role in neuronal migration
, 1995 Miller-Dieker lissencephaly syndrome (MDS) is a human developmental brain malformation caused by neuronal migration defects resulting in abnormal layering of the cerebral cortex.
AM Buchberg +9 more
core +2 more sources
Global developmental gene expression and pathway analysis of normal brain development and mouse models of human neuronal migration defects. [PDF]
PLoS Genetics, 2011 Heterozygous LIS1 mutations are the most common cause of human lissencephaly, a human neuronal migration defect, and DCX mutations are the most common cause of X-linked lissencephaly.
Tiziano Pramparo +7 more
doaj +1 more source
Developmental downregulation of LIS1 expression limits axonal extension and allows axon pruning
Biology Open, 2017 The robust axonal growth and regenerative capacities of young neurons decrease substantially with age. This developmental downregulation of axonal growth may facilitate axonal pruning and neural circuit formation but limits functional recovery following ...
Kanako Kumamoto +5 more
doaj +1 more source
iScience, 2022 Summary: In the axon terminal, microtubule stability is decreased relative to the axon shaft. The dynamic microtubule plus ends found in the axon terminal have many functions, including serving as a docking site for the Cytoplasmic dynein motor. Here, we
Dane Kawano +6 more
doaj +1 more source
Brain Sciences, 2021 The 17p13.3 chromosome region is often deleted or duplicated in humans, resulting in severe neurodevelopmental disorders such as Miller–Dieker syndrome (MDS) and 17p13.3 duplication syndrome.
Xiaonan Liu +3 more
doaj +1 more source
Mechanisms of regulation of cytoplasmic dynein by Lis1 [PDF]
, 2021 Cytoplasmic dynein-1 (dynein) is a molecular motor that drives nearly all minus-end-directed microtubule-based transport in human cells, performing functions ranging from retrograde axonal transport to mitotic spindle assembly.
Gillies, John Patrick
core +1 more source
Lissencephaly-1 dependent axonal retrograde transport of L1-type CAM Neuroglian in the adult drosophila central nervous system. [PDF]
PLoS ONE, 2017 Here, we established the Drosophila Giant Fiber neurons (GF) as a novel model to study axonal trafficking of L1-type Cell Adhesion Molecules (CAM) Neuroglian (Nrg) in the adult CNS using live imaging.
Sirisha R Kudumala +8 more
doaj +1 more source
Frontiers in Cellular Neuroscience, 2019 LIS1 is the main causative gene for lissencephaly, while MeCP2 is the main causative gene for Rett syndrome, both of which are neurodevelopmental diseases.
Liraz Keidar +10 more
doaj +1 more source
The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity
Epilepsia Open, Volume 11, Issue 5, Page 1395-1412, October 2026.Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia +4 more
wiley +1 more source
Lis1 relieves cytoplasmic dynein-1 autoinhibition by acting as a molecular wedge [PDF]
, 2023 Cytoplasmic dynein-1 transports intracellular cargo towards microtubule minus ends. Dynein is autoinhibited and undergoes conformational changes to form an active complex that consists of one or two dynein dimers, the dynactin complex, and activating ...
Karasmanis, E.P. +26 more
core +1 more source