Results 41 to 50 of about 3,592 (196)
An Essential Postdevelopmental Role for Lis1 in Mice [PDF]
eneuro, 2018 LIS1 mutations cause lissencephaly (LIS), a severe developmental brain malformation. Much less is known about its role in the mature nervous system. LIS1 regulates the microtubule motor cytoplasmic dynein 1 (dynein), and as LIS1 and dynein are both expressed in the adult nervous system, Lis1 could potentially ...
Timothy J. Hines +6 more
openaire +2 more sources
New insights into the mechanism of dynein motor regulation by lissencephaly-1
eLife, 2020 Lissencephaly (‘smooth brain’) is a severe brain disease associated with numerous symptoms, including cognitive impairment, and shortened lifespan. The main causative gene of this disease – lissencephaly-1 (LIS1) – has been a focus of intense scrutiny ...
Steven M Markus +2 more
doaj +1 more source
EMBO Molecular Medicine, 2013 LIS1 (PAFAH1B1) mutation can impair neuronal migration, causing lissencephaly in humans. LIS1 loss is associated with dynein protein motor dysfunction, and disrupts the actin cytoskeleton through disregulated RhoGTPases.
Anamaria Sudarov +4 more
doaj +1 more source
Managing Drug-Resistant Epilepsy and Severe Feeding Difficulties in Miller-Dieker Syndrome: The Role of Enteral Ketogenic Diet. [PDF]
Case Rep PediatrMiller–Dieker syndrome (MDS) is a rare genetic disorder characterized by classical lissencephaly, severe neurodevelopmental impairment, and early‐onset drug‐resistant epilepsy. Feeding difficulties and aspiration pneumonia significantly contribute to morbidity and mortality.
Michela P +5 more
europepmc +2 more sources
Lis1 Regulates Dynein as a Molecular Wedge [PDF]
Biophysical Journal, 2014 Cytoplasmic dynein walks along microtubules by coupling cycles of ATP hydrolysis in its motor domain with cycles of microtubule binding and release at its microtubule-binding domain. Unlike the other cytoskeletal motors--kinesin and myosin--that have achieved functional diversity through molecular diversity, a single isoform of cytoplasmic dynein is ...
Toropova, Katerina +5 more
openaire +3 more sources
Conserved roles for the dynein intermediate chain and Ndel1 in assembly and activation of dynein
Nature Communications, 2023 Processive transport by the microtubule motor cytoplasmic dynein requires the regulated assembly of a dynein-dynactin-adapter complex. Interactions between dynein and dynactin were initially ascribed to the dynein intermediate chain N-terminus and the ...
Kyoko Okada +6 more
doaj +1 more source
Frontiers in Cell and Developmental Biology, 2022 LIS1 (PAFAH1B1) plays a major role in the developing cerebral cortex, and haploinsufficient mutations cause human lissencephaly type 1. We have studied morphological and functional properties of the cerebral cortex of mutant mice harboring a deletion in ...
E. Domínguez-Sala +10 more
doaj +1 more source
Lis1 activates dynein motility by modulating its pairing with dynactin [PDF]
, 2020 Lissencephaly-1 (Lis1) is a key cofactor for dynein-mediated intracellular transport towards the minus-ends of microtubules. It remains unclear whether Lis1 serves as an inhibitor or an activator of mammalian dynein motility.
Sara Volz +11 more
core +1 more source
eLife, 2020 Heterozygous loss of human PAFAH1B1 (coding for LIS1) results in the disruption of neurogenesis and neuronal migration via dysregulation of microtubule (MT) stability and dynein motor function/localization that alters mitotic spindle orientation ...
Hyang Mi Moon +3 more
doaj +1 more source
CNV and nervous system diseases - what's new? [PDF]
, 2008 Several new genomic disorders caused by copy number variation (CNV) of genes whose dosage is critical for the physiological function of the nervous system have been recently identified.
Gu, W., Lupski, J. R.
core +1 more source