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In summary, we present a case of congenital plaquetype GVM and a case of familial disseminated cutaneous GVM, both with the same glomulin gene mutation (c.157_161delAAGAA), but with different clinical expression.
Our report contributes to document the possible association between the c.395-1G>C mutation of GLMN gene and glomuvenous malformations.
FAP48 adipocyte expression plays a key role in HIV-associated lipodystrophy.
Structural and biochemical analyses reveal that GLMN adopts a HEAT-like repeat fold that tightly binds the E2-interacting surface of RBX1, inhibiting CRL-mediated chain formation by the E2 CDC34.
These data identify glomulin as a permissivity factor for VACV infection and as a potential therapeutic target for inhibition of vaccinia virus (VACV) infection.
The glomuvenous malformation protein Glomulin binds Rbx1 and regulates cullin-1 RING ligase-mediated turnover of Fbw7.
A novel GLMN mutation is described in an Italian family with glomuvenous malformations in which some members present with the less commonly observed phenotype of solitary lesions.
Describes the characterizations of 14 different mutations in the glomulin gene in patients with glomuvenous malformations.
FAP48-FKBP complexes increase IL2 production
Shigella hijacks the glomulin-cIAP1-cIAP2-inflammasome axis to promote inflammation.
Results indicate a bacterial adaptation that hijacks inflammasome activation via interactions between IpaH7.8 E3 ubiquitin ligase and glomulin (GLMN).
The glomulin expression during murine development (E9.5 days post-coitum until adulthood) by non-radioactive in situ hybridization was studied.
This gene encodes a phosphorylated protein that is a member of a Skp1-Cullin-F-box-like complex. The protein is essential for normal development of the vasculature and mutations in this gene have been associated with glomuvenous malformations, also called glomangiomas. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined.
FK506-binding protein-associated protein
, FKBP-associated protein
, FKBP associated protein
, glomulin, FKBP associated protein
, LOW QUALITY PROTEIN: glomulin
, glomulin, FKBP associated protein b