Results 171 to 180 of about 19,250 (186)

SUN1 facilitates CHMP7 nuclear influx and injury cascades in sporadic amyotrophic lateral sclerosis

Brain, 2023
AbstractWe have recently identified the aberrant nuclear accumulation of the ESCRT-III protein CHMP7 as an initiating event that leads to a significant injury to the nuclear pore complex (NPC) characterized by the reduction of specific nucleoporins from the neuronal NPC in sporadic amyotrophic lateral sclerosis (sALS) and C9orf72 ALS/frontotemporal ...
Victoria Baskerville, Sampath Rapuri, Emma Mehlhop, Alyssa N Coyne   +3 more
openaire   +2 more sources

Contribution of SUN1 Mutations to the Pathomechanism in Muscular Dystrophies

Human Mutation, 2014
Mutations in several genes encoding nuclear envelope (NE) associated proteins cause Emery-Dreifuss muscular dystrophy (EDMD). We analyzed fibroblasts from a patient who had a mutation in the EMD gene (p.L84Pfs*6) leading to loss of Emerin and a heterozygous mutation in SUN1 (p.A203V).
Ping, Li, Peter, Meinke, Le Thi Thanh, Huong, Manfred, Wehnert, Angelika A, Noegel   +4 more
openaire   +2 more sources

Sun1 Mediates Interkinetic Nuclear Migration and Notch Signaling in the Neurogenesis of Zebrafish

Stem Cells and Development, 2019
Interkinetic nuclear migration (INM) is a process by which nuclei oscillate between the basal and apical surfaces of epithelial cells in coordination with the cell cycle. The cytoskeletal machinery including microtubules and actin has been reported to drive apical INM; however, the role of nuclear proteins in this process has yet to be fully elucidated.
May-Su, You, Wan-Ping, Wang, Jing-Ya, Wang, Yun-Jin, Jiang, Ya-Hui, Chi   +4 more
openaire   +2 more sources

Detection of SUN1 Splicing Variants at the mRNA and Protein Levels in Cancer

2018
The linker of nucleoskeleton and cytoskeleton (LINC) complex, containing the proteins SUN and nesprin, is the fundamental structural unit of the nuclear envelope. The neoplastic-based regulation of the LINC complex in cancer tissues has become increasingly recognized in recent years, including the altered expression, somatic mutation, and methylation ...
Ayaka, Matsumoto, Nariaki, Matsuura, Miki, Hieda   +2 more
openaire   +2 more sources