Disease causing mutations in the TNF and TNFR superfamilies: Focus on molecular mechanisms driving disease

Autor: Jan Paul Medema, Tanit L. Gabriel, Fiona C. Kimberley, Adrian A. Lobito

Publikováno v: Trends in Molecular Medicine. 17:494-505

The tumor necrosis factor (TNF) and TNF receptor (TNFR) superfamilies comprise multidomain proteins with diverse roles in cell activation, proliferation and cell death. These proteins play pivotal roles in the initiation, maintenance and termination

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::516f55b73632476c59f169e260af11c5
https://doi.org/10.1016/j.molmed.2011.05.006

Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TNFR1-associated periodic fever syndrome (TRAPS)

Autor: Richard M. Siegel, Adrianna J. Jackson, Jagan R. Muppidi, Daniel L. Kastner, Keith M. Hull, Gavin R. Screaton, Fiona C. Kimberley, Hirsh D. Komarow, Adrian A. Lobito

Publikováno v: Blood. 108:1320-1327

Tumor necrosis factor (TNF) receptor–associated periodic syndrome (TRAPS) is an autosomal dominant systemic autoinflammatory disease associated with heterozygous mutations in TNF receptor 1 (TNFR1). Here we examined the structural and functional al

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::953bdd21cd3895d19d020ee6db22a012
https://doi.org/10.1182/blood-2005-11-006783

Disruption of heparan sulfate proteoglycan conformation perturbs B-cell maturation and APRIL-mediated plasma cell survival

Autor: Kees Weijer, Jin-Ping Li, Steven T. Pals, Richard W.J. Groen, Annemieke Kuil, Fiona C. Kimberley, Jan Paul Medema, Rogier M. Reijmers, Marcel Spaargaren, Toin H. van Kuppevelt

Publikováno v: Blood, 117, 6162-71
Blood, 117(23), 6162-6171. American Society of Hematology
Reijmers, R M, Groen, R W J, Kuil, A, Weijer, K, Kimberley, F C, Medema, J P, van Kuppevelt, T H, Li, J-P, Spaargaren, M & Pals, S T 2011, ' Disruption of heparan sulfate proteoglycan conformation perturbs B-cell maturation and APRIL-mediated plasma cell survival ', Blood, vol. 117, no. 23, pp. 6162-71 . https://doi.org/10.1182/blood-2010-12-325522
Blood, 117(23), 6162-71. American Society of Hematology
Blood, 117, 23, pp. 6162-71

The development and antigen-dependent differentiation of B lymphocytes are orchestrated by an array of growth factors, cytokines, and chemokines that require tight spatiotemporal regulation. Heparan sulfate proteoglycans specifically bind and regulat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66e41eb4390c4dd8c7e30c7b9b7dae4a
http://hdl.handle.net/2066/95817

APRIL in B-cell malignancies and autoimmunity

Autor: Fiona C, Kimberley, Jan Paul, Medema, Michael, Hahne

Publikováno v: Results and problems in cell differentiation. 49

A Proliferation Inducing Ligand (APRIL) was first identified as a cytokine expressed predominantly by tumour tissues and was not found in most normal tissues. The activity of this new cytokine, in terms of its ability to stimulate tumour cell prolife

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::11123ad46076e70680075e0fb00694aa
https://pubmed.ncbi.nlm.nih.gov/19142624

Falling into TRAPS - receptor misfolding in the TNF receptor 1-associated periodic fever syndrome

Autor: Gavin R. Screaton, Fiona C. Kimberley, Richard M. Siegel, Adrian A. Lobito

Publikováno v: Arthritis Research & Therapy

TNF receptor-associated periodic syndrome (TRAPS) is a dominantly inherited disease caused by missense mutations in the TNF receptor 1 (TNFR1) gene. Patients suffer from periodic bouts of severe abdominal pain, localised inflammation, migratory rashe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c172bd73e6b6c97e514e98bbca1489c2
https://doi.org/10.1186/ar2197