Results 131 to 140 of about 4,081 (158)
The SUN1 splicing variants SUN1_888 and SUN1_916 differentially regulate nucleolar structure [PDF]
Genes To Cells, 2020 AbstractThe nucleolar structure is highly dynamic and strictly regulated in response to internal cues, such as metabolic rates, and to external cues, such as mechanical forces applied to cells. Although the multilayered nucleolar structure is largely determined by the liquid‐like properties of RNA and proteins, the mechanisms regulating the morphology ...
Jun Katahira, Miki Matsumura
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Contribution of SUN1 Mutations to the Pathomechanism in Muscular Dystrophies
Human Mutation, 2014Mutations 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).
Peter Meinke
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Prelamin A-mediated recruitment of SUN1 to the nuclear envelope directs nuclear positioning in human muscle [PDF]
Cell Death and Differentiation, 2011 Lamin A is a nuclear lamina constituent expressed in differentiated cells. Mutations in the LMNA gene cause several diseases, including muscular dystrophy and cardiomyopathy. Among the nuclear envelope partners of lamin A are Sad1 and UNC84 domain-containing protein 1 (SUN1) and Sad1 and UNC84 domain-containing protein 2 (SUN2), which mediate nucleo ...
Katia Scotlandi +2 more
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Detection of SUN1 Splicing Variants at the mRNA and Protein Levels in Cancer
Methods in Molecular Biology, 2018The 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 ...
Miki Matsumura
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Sun1 Mediates Interkinetic Nuclear Migration and Notch Signaling in the Neurogenesis of Zebrafish
Stem Cells and Development, 2019Interkinetic 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 ...
Ya-Hui Chi, Yun-Jin Jiang, May-Su You
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SUN1 facilitates CHMP7 nuclear influx and injury cascades in sporadic amyotrophic lateral sclerosis
Brain, 2023AbstractWe 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 +3 more
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European Journal of Cell Biology, 2009 Centrosomal attachment to nuclei is crucial for proper mitosis and nuclear positioning in various organisms, and generally involves Sun-family proteins located at the inner nuclear envelope. There is still no common scheme for the outer nuclear membrane proteins interacting with Sun1 in centrosome/nucleus attachment.
Ralph Graf, Otto Baumann
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Journal of Hepatology, 2023
Non-alcoholic fatty liver disease (NAFLD), and its progressive form steatohepatitis (NASH), represent a genetically and phenotypically diverse entity for which there is no approved therapy, making it imperative to define the spectrum of pathways contributing to its pathogenesis.
Kapil K. Upadhyay +8 more
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Non-alcoholic fatty liver disease (NAFLD), and its progressive form steatohepatitis (NASH), represent a genetically and phenotypically diverse entity for which there is no approved therapy, making it imperative to define the spectrum of pathways contributing to its pathogenesis.
Kapil K. Upadhyay +8 more
openaire +2 more sources
, 2015 Mutations in several genes encoding nuclear envelope 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). The second patient harbored a heterozygous mutation in LAP2alpha (p.P426L)
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