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GLE1 encodes a predicted 75-kDa polypeptide with high sequence and structure homology to yeast Gle1p, which is nuclear protein with a leucine-rich nuclear export sequence essential for poly(A)+RNA export.
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We identified bi-allelic mutations in GLE1 in two unrelated individuals with motor delays, feeding difficulties, and respiratory insufficiency who survived beyond the perinatal period. Each affected child had missense variants predicted to result in amino acid substitutions near the C-terminus of GLE1 that are predicted to disrupt protein-protein interaction or GLE1 protein targeting.
It was concluded that the amyotrophic lateral sclerosis-linked Gle1-c.1965-2A>C mutation generates a protein isoform capable of both Gle1A- and Gle1B-ascribed functions, and thereby uncoupled from normal mechanisms of Gle1 regulation.
We also suggest that lethal congenital contracture syndrome 1 (LCCS1) and lethal arthrogryposis with anterior horn disease (LAAHD), the two AMC subtypes related to GLE1, do not have sufficient clinical or molecular differentiation to be considered allelic disorders. Rather, GLE1 mutations cause a variable spectrum of AMC severity including a non-lethal variant described herein
Restoration of miR (show MLXIP Antibodies)-127-3p and miR (show MLXIP Antibodies)-376a-3p counteracts the neoplastic phenotype of giant cell tumor of bone derived stromal cells by targeting COA1 (show UBXN11 Antibodies), GLE1 and PDIA6 (show PDIA6 Antibodies).
We report the identification of the first heterozygous mutations in GLE1 ever found to be associated with amyotrophic lateral sclerosis.
Lethal congenital contracture syndrome 1 and lethal arthrogryposis with anterior horn cell disease are associated with defective Gle1 function during the export of mRNA. [review]
Report documents a requirement for Gle1 self-association during mRNA export and uncover molecular defects underlying a lethal human disease lethal congenital contracture syndrome-1.
Dbp5 (show SON Antibodies), Gle1-IP6 (show GPRIN2 Antibodies) and Nup159: a working model for mRNP export.
defective zebrafish GLE1 function in human LCCS1 results in both neurogenic and non-neurogenic defects linked to the apoptosis of proliferative organ precursors
The unique carboxyl-terminal 43 amino acid region of the hGle1B isoform mediates binding to the C-terminal non-phenylalanine- glycine region of the nucleoporin hCG1/NPL1.
This gene encodes a predicted 75-kDa polypeptide with high sequence and structure homology to yeast Gle1p, which is nuclear protein with a leucine-rich nuclear export sequence essential for poly(A)+RNA export. Inhibition of human GLE1L by microinjection of antibodies against GLE1L in HeLa cells resulted in inhibition of poly(A)+RNA export. Immunoflourescence studies show that GLE1L is localized at the nuclear pore complexes. This localization suggests that GLE1L may act at a terminal step in the export of mature RNA messages to the cytoplasm. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene.
, nucleoporin GLE1
, GLE1 RNA export mediator homolog
, GLE1-like protein
, GLE1-like, RNA export mediator
, GLE1 RNA export mediator-like (yeast