Results 211 to 220 of about 8,390 (226)

A microduplication on chromosome 17p13.1p13.3 including the PAFAH1B1 (LIS1) gene

American Journal of Medical Genetics Part A, 2011
Recently, three children with a microduplication in 17p13 including the PAFAH1B1 gene that encodes LIS1 were reported. LIS1 overexpression has earlier been shown to affect brain development by causing migrational defects and reductions in brain volume [Bi et al., 2009].
Sakari Knuutila, Mirja Somer, Kristiina Avela, Nina Horelli-Kuitunen, Katja Aktan-Collan   +4 more
openaire   +3 more sources

Identification of novel Lis1 protein interaction partners: Investigations towards cellular Lis1 functions

2010
Die Haploinsuffizienz des Lis1 führt beim Menschen zu der Lissenzephalie Typ 1. Mausmutanten mit homozygotem Lis1 sind vorgeburtlich letal, und männliche Mäuse mit einer Genfalle im Lis1 Lokus sind infertil und zeigen eine deutlich verringerte Spermienzahl. Diese Mutationen verdeutlichen die tragende Bedeutung von Lis1 in unterschiedlichen Zellen. Mit
openaire   +3 more sources

Characterization of the overlapping expression patterns of the zebrafish LIS1 orthologs

Gene Expression Patterns, 2010
Mutations in the LIS1 (Lissencephaly-1) gene underlie classical lissencephaly. This neurodevelopmental disorder is characterized by a loss of cortical gyri and improper laminar formation of the brain due to impaired neuronal migration. Patients with type 1 lissecephaly present with mental retardation and an increased risk of developing other disorders ...
Jill A. Morris, Catherine M. Drerup, Heather M. Wiora   +2 more
openaire   +2 more sources

Lis1 Lis1 Lis1

Science, 2000
openaire   +2 more sources

New pieces for the Lis1–dynein puzzle

Nature Structural & Molecular Biology, 2023
openaire   +2 more sources

LIS1 promotes the formation of activated cytoplasmic dynein-1 complexes

Nature Cell Biology, 2020
Zaw Min Htet, Richard W Baker, Andres E Leschziner   +2 more
exaly  

Lis1 activates dynein motility by modulating its pairing with dynactin

Nature Cell Biology, 2020
Janina Baumbach, Simon L Bullock, Ahmet Yildiz   +2 more
exaly  

Dual subcellular roles for LIS1 and dynein in radial neuronal migration in live brain tissue

Nature Neuroscience, 2007
Jin-Wu Tsai, Richard B Vallee
exaly  

Calcium-dependent interaction of Lis1 with IQGAP1 and Cdc42 promotes neuronal motility

Nature Neuroscience, 2005
Anthony Wynshaw-Boris
exaly  

Regulators of the cytoplasmic dynein motor

Nature Reviews Molecular Cell Biology, 2009
Julia R Kardon
exaly