Results 81 to 90 of about 2,739 (166)

A Novel De Novo Splice Acceptor Variant in BICD2 Is Associated With Spinal Muscular Atrophy

American Journal of Medical Genetics Part A, Volume 197, Issue 4, April 2025.
Giulia F. Del Gobbo, Xueqi Wang, Stella K. MacDonald, Yijing Liang, Care4Rare Canada Consortium, Hugh J. McMillan, Gabrielle Lemire, Kym M. Boycott   +7 more
wiley   +1 more source

Structural and Diffusion MRI Analyses With Histological Observations in Patients With Lissencephaly

Frontiers in Cell and Developmental Biology, 2019
The development of cortical convolutions, gyri and sulci, is a complex process that takes place during prenatal development. Lissencephaly, a rare genetic condition characterized by the lack of cortical convolutions, offers a model to look into ...
Lana Vasung, Lana Vasung, Arthur Rezayev, Arthur Rezayev, Hyuk Jin Yun, Hyuk Jin Yun, Jae W. Song, Andre van der Kouwe, Natalie Stewart, Natalie Stewart, Arthi Palani, Arthi Palani, Tadashi Shiohama, Tadashi Shiohama, Tadashi Shiohama, Francois Chouinard-Decorte, Jacob Levman, Jacob Levman, Jacob Levman, Emi Takahashi, Emi Takahashi   +20 more
doaj   +1 more source

ISEV2026 Abstract Book

Journal of Extracellular Vesicles, Volume 15, Issue S1, June 2026.
wiley   +1 more source

LIS1 Is Critical for Axon Integrity in Adult Mice

The Journal of Neuroscience
Mutations in human LIS1 cause lissencephaly, a severe developmental brain malformation. Although most studies focus on development, LIS1 is also expressed in adult mouse tissues. We previously induced LIS1 knock-out (iKO) in adult mice using a Cre-Lox approach with an actin promoter driving CreERT2 expression.
Samaneh Matoo, Anne M. Ventrone, Shreena Patel, Jack K. Otterson, Sean Noonan, Noah Leever, Timothy J. Hines, Ashley L. Kalinski, Deanna S. Smith   +8 more
openaire   +1 more source

Lis1 cuts its work short

Journal of Cell Biology, 2012
![Figure][1] Endosomes (green) move in normal fungi (top) but stay put if Lis1 is absent (bottom). Egan et al. clarify the role of the dynein co-factor Lis1 in cargo transport. The molecular motor dynein ferries cargoes toward the minus ends of microtubules, typically toward the nucleus.
openaire   +2 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   +2 more sources

LIS1 Missense Mutations [PDF]

Journal of Biological Chemistry, 2003
Michal Caspi, Frédéric M. Coquelle, Cynthia Koifman, Talia Levy, Hiroyuki Arai, Junken Aoki, Jan R. De Mey, Orly Reiner   +7 more
openaire   +1 more source

LIS1 and DCX: Implications for Brain Development and Human Disease in Relation to Microtubules

Scientifica, 2013
Proper lamination of the cerebral cortex requires the orchestrated motility of neurons from their place of birth to their final destination. Improper neuronal migration may result in a wide range of diseases, including brain malformations, such as ...
Orly Reiner
doaj   +1 more source

LIS1 [PDF]

Neuron, 2000
openaire   +1 more source

Kampen om LIS1

Tidsskrift for Den norske legeforening, 2022
openaire   +1 more source