Human Genetic Diseases Linked to the Absence of NEMO: An Obligatory Somatic Mosaic Disorder in Male

Autor: Alessandra Pescatore, Ezia Spinosa, Carmela Casale, Maria Brigida Lioi, Matilde Valeria Ursini, Francesca Fusco

Publikováno v: International Journal of Molecular Sciences, Vol 23, Iss 1179, p 1179 (2022)

De novo somatic mutations are well documented in diseases such as neoplasia but are rarely reported in rare diseases. Hovewer, severe genetic diseases that are not compatible with embryonic development are caused exclusively by deleterious mutations

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e7be8017a36a438a6be0b20f26b7a2d
https://www.mdpi.com/1422-0067/23/3/1179

Ubiquitin Specific Protease USP48 Destabilizes NF-κB/p65 in Retinal Pigment Epithelium Cells

Autor: Serena Mirra, Laura Sánchez-Bellver, Carmela Casale, Alessandra Pescatore, Gemma Marfany

Publikováno v: International Journal of Molecular Sciences; Volume 23; Issue 17; Pages: 9682

Activation of NF-κB transcription factor is strictly regulated to accurately direct cellular processes including inflammation, immunity, and cell survival. In the retina, the modulation of the NF-κB pathway is essential to prevent excessive inflamm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f01f0c757276908fb9d4b26e676a3d4
https://doi.org/10.3390/ijms23179682

Life, death, and autophagy in cancer: NF-KB turns up everywhere

Autor: Edoardo Alesse, Guido Franzoso, Daniela Verzella, Francesca Zazzeroni, Davide Vecchiotti, Alessandra Pescatore, Matilde Valeria Ursini, Daria Capece

Publikováno v: Cell death and disease 11 (2020). doi:10.1038/s41419-020-2399-y
info:cnr-pdr/source/autori:Verzella D.; Pescatore A.; Capece D.; Vecchiotti D.; Ursini M.V.; Franzoso G.; Alesse E.; Zazzeroni F./titolo:Life, death, and autophagy in cancer: NF-KB turns up everywhere/doi:10.1038%2Fs41419-020-2399-y/rivista:Cell death and disease/anno:2020/pagina_da:/pagina_a:/intervallo_pagine:/volume:11
Cell Death and Disease, Vol 11, Iss 3, Pp 1-14 (2020)
Cell Death & Disease

Escaping programmed cell death is a hallmark of cancer. NF-κB transcription factors are key regulator of cell survival and aberrant NF-κB signaling has been involved in the pathogenesis of most human malignancies. Although NF-κB is best known for

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30f6b6c4ece8c4d64c0eebc3630baf77
http://www.scopus.com/inward/record.url?eid=2-s2.0-85082559041&partnerID=q2rCbXpz

The isoprenoid end product N6-isopentenyladenosine reduces inflammatory response through the inhibition of the NFκB and STAT3 pathways in cystic fibrosis cells

Autor: Lucia Prota, Antonietta Santoro, Alessandra Pescatore, Elena Ciaglia, Matilde Valeria Ursini, Stefania Lucia Nori, Maurizio Bifulco, Mario Capunzo, Vanessa Nicolin

Publikováno v: Inflammation research (Print. ed.) 67 (2018): 315–326. doi:10.1007/s00011-017-1123-6
info:cnr-pdr/source/autori:Santoro A.; Ciaglia E.; Nicolin V.; Pescatore A.; Prota L.; Capunzo M.; Ursini M.V.; Nori S.L.; Bifulco M./titolo:The isoprenoid end product N6-isopentenyladenosine reduces inflammatory response through the inhibition of the NF?B and STAT3 pathways in cystic fibrosis cells/doi:10.1007%2Fs00011-017-1123-6/rivista:Inflammation research (Print. ed.)/anno:2018/pagina_da:315/pagina_a:326/intervallo_pagine:315–326/volume:67
Inflammation Research

N6-isopentenyladenosine (iPA) is an intermediate of the mevalonate pathway that exhibits various anti-cancer effects. However, studies on its anti-inflammatory activity are scarce and underlying molecular mechanisms are unknown. Therefore, we aimed t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0712849dff3f1c1088bfb03a59ce7cb1
http://hdl.handle.net/11368/2921092

Insight intoIKBKG/NEMOLocus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease

Autor: Alessandra Pescatore, Mariateresa Paciolla, Christine Bodemer, Asma Smahi, Angela E. Scheuerle, Jean-Paul Bonnefont, Maria Giuseppina Miano, Elio Esposito, Matilde Immacolata Conte, Matilde Valeria Ursini, Maeve A. McAleer, Ghislaine Royer, Smail Hadj-Rabia, Claudio Pignata, Francesca Fusco, Alan D. Irvine, Giuliana Giardino, Julie Steffann, Maria Brigida Lioi, Arnold Munnich

Publikováno v: Human Mutation. 35:165-177

Incontinentia pigmenti (IP) is an X-linked-dominant Mendelian disorder caused by mutation in the IKBKG/NEMO gene, encoding for NEMO/IKKgamma, a regulatory protein of nuclear factor kappaB (NF-kB) signaling. In more than 80% of cases, IP is due to rec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10024dea68d404424675ee0016983018
https://doi.org/10.1002/humu.22483