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» Authors » Nicoletta Zoppi

Nicoletta Zoppi

Explore the profile of Nicoletta Zoppi including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 46
Citations 837
Followers 0
Related Specialties
Genetics
Biochemistry
Biophysics
Top 10 Co-Authors
Marina Colombi
Marco Ritelli
Nicola Chiarelli
Sergio Barlati
Marina Venturini
Valeria Cinquina
Marco Castori
Rita Gardella
Cecilia Giunta
Paola Grammatico
Published In
Am J Med Genet A
Biochim Biophys Acta Mol Basis Dis
Orphanet J Rare Dis
Biochim Biophys Acta
PLoS One
Affiliations
Soon will be listed here.
Recent Articles
1.
Integrative Multi-Omics Approach in Vascular Ehlers-Danlos Syndrome: Further Insights into the Disease Mechanisms by Proteomic Analysis of Patient Dermal Fibroblasts
Chiarelli N, Cinquina V, Zoppi N, Bertini V, Maddaluno M, De Leonibus C, et al.
Biomedicines . 2025 Jan; 12(12. PMID: 39767655
: Dominant mutations in are known to cause vascular Ehlers-Danlos syndrome (vEDS) by impairing extracellular matrix (ECM) homeostasis. This disruption leads to the fragility of soft connective tissues and a...
2.
Bridging the Diagnostic Gap for Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders: Evidence of a Common Extracellular Matrix Fragmentation Pattern in Patient Plasma as a Potential Biomarker
Ritelli M, Chiarelli N, Cinquina V, Bertini V, Piantoni S, Caproli A, et al.
Am J Med Genet A . 2024 Sep; 197(1):e63857. PMID: 39225014
Diagnosing hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD), common overlapping multisystemic conditions featuring symptomatic joint hypermobility, is challenging due to lack of established causes and diagnostic tools. Currently,...
3.
Deciphering disease signatures and molecular targets in vascular Ehlers-Danlos syndrome through transcriptome and miRNome sequencing of dermal fibroblasts
Chiarelli N, Cinquina V, Martini P, Bertini V, Zoppi N, Venturini M, et al.
Biochim Biophys Acta Mol Basis Dis . 2023 Oct; 1870(1):166915. PMID: 37827202
Vascular Ehlers-Danlos syndrome (vEDS) is a severe connective tissue disorder caused by dominant mutations in the COL3A1 gene encoding type III collagen (COLLIII). COLLIII is primarily found in blood vessels...
4.
Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome
Fortugno P, Monetta R, Cinquina V, Rigon C, Boaretto F, De Luca C, et al.
Eur J Hum Genet . 2023 Jan; 31(5):596-601. PMID: 36599937
Pathogenic variants in TGFBR1 are a common cause of Loeys-Dietz syndrome (LDS) characterized by life-threatening aortic and arterial disease. Generally, these are missense changes in highly conserved amino acids in...
5.
RNA-Seq of Dermal Fibroblasts from Patients with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders Supports Their Categorization as a Single Entity with Involvement of Extracellular Matrix Degrading and Proinflammatory...
Ritelli M, Chiarelli N, Cinquina V, Zoppi N, Bertini V, Venturini M, et al.
Cells . 2022 Dec; 11(24). PMID: 36552803
Hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) are clinically overlapping connective tissue disorders of unknown etiology and without any validated diagnostic biomarker and specific therapies. Herein, we in-depth...
6.
Matrix Metalloproteinases Inhibition by Doxycycline Rescues Extracellular Matrix Organization and Partly Reverts Myofibroblast Differentiation in Hypermobile Ehlers-Danlos Syndrome Dermal Fibroblasts: A Potential Therapeutic Target?
Chiarelli N, Zoppi N, Venturini M, Capitanio D, Gelfi C, Ritelli M, et al.
Cells . 2021 Nov; 10(11). PMID: 34831458
Hypermobile Ehlers-Danlos syndrome (hEDS) is the most frequent type of EDS and is characterized by generalized joint hypermobility and musculoskeletal manifestations which are associated with chronic pain, and mild skin...
7.
Biological insights in the pathogenesis of hypermobile Ehlers-Danlos syndrome from proteome profiling of patients' dermal myofibroblasts
Chiarelli N, Zoppi N, Ritelli M, Venturini M, Capitanio D, Gelfi C, et al.
Biochim Biophys Acta Mol Basis Dis . 2020 Dec; 1867(4):166051. PMID: 33383104
Hypermobile Ehlers-Danlos syndrome (hEDS), mainly characterized by generalized joint hypermobility and its complications, minor skin changes, and apparently segregating with an autosomal dominant pattern, is still without a known molecular...
8.
Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy
Micale L, Morlino S, Biagini T, Carbone A, Fusco C, Ritelli M, et al.
Biochim Biophys Acta Mol Basis Dis . 2020 Feb; 1866(6):165742. PMID: 32105826
Transforming growth factor beta-activated kinase 1 (TAK1) is a highly conserved kinase protein encoded by MAP3K7, and activated by multiple extracellular stimuli, growth factors and cytokines. Heterozygous variants in MAP3K7...
9.
COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap
Morlino S, Micale L, Ritelli M, Rohrbach M, Zoppi N, Vandersteen A, et al.
Clin Genet . 2019 Dec; 97(3):396-406. PMID: 31794058
The 2017 classification of Ehlers-Danlos syndromes (EDS) identifies three types associated with causative variants in COL1A1/COL1A2 and distinct from osteogenesis imperfecta (OI). Previously, patients have been described with variable features...
10.
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β
Li J, Ritelli M, Ma C, Rao G, Habib T, Corvilain E, et al.
Sci Immunol . 2019 Dec; 4(41). PMID: 31784499
Genetic etiologies of chronic mucocutaneous candidiasis (CMC) disrupt human IL-17A/F-dependent immunity at mucosal surfaces, whereas those of connective tissue disorders (CTDs) often impair the TGF-β-dependent homeostasis of connective tissues. The...