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Glomulin, FKBP associated protein

glomulin, FAP48, FAP68, GLMN, FKBP-associated protein
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. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: CAN, CD1, TIE-2, Cullin, FKBP52
Papers on glomulin
Incomplete penetrance of GLMN gene c.395-1G>C mutation in a family with glomuvenous malformations.
Arbustini et al., Pavia, Italy. In Int J Dermatol, 2014
They are caused by autosomal dominant mutations in glomulin (GLMN) gene; penetrance varies from 80% at 20 to about 100% at age 30 years.
Shigella IpaH7.8 E3 ubiquitin ligase targets glomulin and activates inflammasomes to demolish macrophages.
Sasakawa et al., Tokyo, Japan. In Proc Natl Acad Sci U S A, 2014
We defined glomulin/flagellar-associated protein 68 (GLMN) as an IpaH7.8 target involved in IpaH7.8
Glomuvenous malformations with smooth muscle and eccrine glands: unusual histopathologic features in a familial setting.
Arbustini et al., Pavia, Italy. In J Cutan Pathol, 2014
Glomuvenous malformations are caused by autosomal dominant mutations of the GLMN gene.
Genotypes and phenotypes of 162 families with a glomulin mutation.
GVM Study Group et al., In Mol Syndromol, 2013
A decade ago, we identified a novel gene, glomulin (GLMN) in which mutations cause glomuvenous malformations (GVMs).
Somatic uniparental isodisomy explains multifocality of glomuvenous malformations.
Vikkula et al., Brussels, Belgium. In Am J Hum Genet, 2013
Occurrences of these mutations render the inherited glomulin variant in 1p22.1 homozygous in the affected tissues without loss of genetic material.
Epigenetics-related genes in prostate cancer: expression profile in prostate cancer tissues, androgen-sensitive and -insensitive cell lines.
Wernert et al., Bonn, Germany. In Int J Mol Med, 2013
In modera-tely differentiated tumors compared to normal glands of the peripheral zone, we found the genes, TDRD1, IGF2, DICER1, ADARB1, HILS1, GLMN and TRIM27, to be upregulated, whereas TNRC6A and DGCR8 were found to be downregulated.
Role of FAP48 in HIV-associated lipodystrophy.
Chirianni et al., Napoli, Italy. In J Cell Biochem, 2012
The most significant modulation was represented by FAP48 expression.
Cullin RING ligases: glommed by glomulin.
Weissman et al., Frederick, United States. In Mol Cell, 2012
Two recent studies in Molecular Cell describe glomulin as a CRL1 inhibitor that blocks interactions with its ubiquitin-conjugating enzyme (E2) (Duda et al., 2012; Tron et al., 2012).
Structure of a glomulin-RBX1-CUL1 complex: inhibition of a RING E3 ligase through masking of its E2-binding surface.
Schulman et al., Memphis, United States. In Mol Cell, 2012
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.
The glomuvenous malformation protein Glomulin binds Rbx1 and regulates cullin RING ligase-mediated turnover of Fbw7.
DeCaprio et al., Boston, United States. In Mol Cell, 2012
The glomuvenous malformation protein Glomulin binds Rbx1 and regulates cullin-1 RING ligase-mediated turnover of Fbw7.
Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation.
Glover et al., Ann Arbor, United States. In Am J Med Genet A, 2012
A GLMN (glomulin) gene mutation was identified in the proband that accounts for the observed GVMs; no other family member could be tested.
Glomulin: a permissivity factor for vaccinia virus infection.
Fish et al., Toronto, Canada. In J Interferon Cytokine Res, 2012
These data identify glomulin as a permissivity factor for VACV infection and as a potential therapeutic target for inhibition of vaccinia virus (VACV) infection.
A novel mutation of the glomulin gene in an Italian family with autosomal dominant cutaneous glomuvenous malformations.
Arbustini et al., In Exp Dermatol, 2011
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.
Multiple disseminated glomuvenous malformations: do we know enough?
Baderca et al., Timişoara / Temesvár, Romania. In Rom J Morphol Embryol, 2011
This is a case of multiple GVMs, a rare disease caused by mutations in glomulin gene, with an autosomal dominant pattern of inheritance.
Glomuvenous malformation in a boy with transposition of the great vessels: a case report and review of literature.
Shwayder et al., Detroit, United States. In Pediatr Dermatol, 2009
The glomulin gene was discovered in 1999, and multiple mutations have been identified with some of the mutations resulting in GVM.
Biomedicine and diseases: the Klippel-Trenaunay syndrome, vascular anomalies and vascular morphogenesis.
Wang et al., Cleveland, United States. In Cell Mol Life Sci, 2005
Similar studies have identified other genes involved in vascular anomalies as important genes for vascular morphogenesis, including TIE2, VEGFR-3, RASA1, KRIT1, MGC4607, PDCD10, glomulin, FOXC2, NEMO, SOX18, ENG, ACVRLK1, MADH4, NDP, TIMP3, Notch3, COL3A1 and PTEN.
Update on the molecular genetics of vascular anomalies.
Wang, Cleveland, United States. In Lymphat Res Biol, 2004
These genes include AGGF1 for Klippel-Trenaunay syndrome, RASA1 for capillary malformations, KRIT1, MGC4607, PDCD10 for cerebral cavernous malformations, glomulin for glomuvenous malformations, TIE2 for multiple cutaneous and mucosal venous malformations, VEGFR-3, FOXC2, NEMO, SOX18 for lymphedema or related syndromes, ENG, ACVRLK1, MADH4 for HHT or related syndromes, NDP for Coats' disease, Notch3 for CADASIL, and PTEN for Proteus Syndrome.
Glomulin is predominantly expressed in vascular smooth muscle cells in the embryonic and adult mouse.
Vikkula et al., Brussels, Belgium. In Gene Expr Patterns, 2004
The glomulin expression during murine development (E9.5 days post-coitum until adulthood) by non-radioactive in situ hybridization was studied.
Vascular malformations: localized defects in vascular morphogenesis.
Vikkula et al., Brussels, Belgium. In Clin Genet, 2003
Only mutations in the glomulin gene, responsible for hereditary glomuvenous malformations, are thought to directly affect vascular smooth-muscle cells.
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