Elisabetta Di Fede
Overview
Explore the profile of Elisabetta Di Fede including associated specialties, affiliations and a list of published articles.
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16
Citations
119
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Recent Articles
1.
Castiglioni S, Pezzoli L, Pezzani L, Lettieri A, Di Fede E, Cereda A, et al.
Orphanet J Rare Dis
. 2024 Dec;
19(1):481.
PMID: 39707491
Background: the protein phosphatase 3 catalytic subunit alpha (PPP3CA) gene encodes for the alpha isoform of the calcineurin catalytic subunit, which controls the phosphorylation status of many targets. Currently, 23...
2.
Avagliano L, Castiglioni S, Lettieri A, Parodi C, Di Fede E, Taci E, et al.
Birth Defects Res
. 2024 Jul;
116(7):e2383.
PMID: 38984779
Background: Chromatinopathies are a heterogeneous group of genetic disorders caused by pathogenic variants in genes coding for chromatin state balance proteins. Remarkably, many of these syndromes present unbalanced postnatal growth,...
3.
Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies
Di Fede E, Lettieri A, Taci E, Castiglioni S, Rebellato S, Parodi C, et al.
Hum Genet
. 2024 May;
143(6):747-759.
PMID: 38753158
Histone deacetylases (HDACs) are enzymes pivotal for histone modification (i.e. acetylation marks removal), chromatin accessibility and gene expression regulation. Class I HDACs (including HDAC1, 2, 3, 8) are ubiquitously expressed...
4.
Di Fede E, Grazioli P, Lettieri A, Parodi C, Castiglioni S, Taci E, et al.
Front Cell Dev Biol
. 2022 Oct;
10:979512.
PMID: 36225316
Chromatinopathies are defined as genetic disorders caused by mutations in genes coding for protein involved in the chromatin state balance. So far 82 human conditions have been described belonging to...
5.
Castiglioni S, Di Fede E, Bernardelli C, Lettieri A, Parodi C, Grazioli P, et al.
Genes (Basel)
. 2022 Mar;
13(3).
PMID: 35328068
(Lysine methyltransferase 2A) is a member of the epigenetic machinery, encoding a lysine methyltransferase responsible for the transcriptional activation through lysine 4 of histone 3 (H3K4) methylation. has a crucial...
6.
Saettini F, Fazio G, Bonati M, Moratto D, Massa V, Di Fede E, et al.
Am J Med Genet A
. 2022 Mar;
188(7):2129-2134.
PMID: 35266289
The Rubinstein-Taybi syndrome (RSTS) is a rare developmental disorder characterized by craniofacial dysmorphisms, broad thumbs and toes, intellectual disability, growth deficiency, and recurrent infections. Mutations in the cyclic adenosine monophosphate...
7.
Parodi C, Di Fede E, Peron A, Vigano I, Grazioli P, Castiglioni S, et al.
Front Cell Dev Biol
. 2021 May;
9:654467.
PMID: 33959609
Prenatal exposure to valproate (VPA), an antiepileptic drug, has been associated with fetal valproate spectrum disorders (FVSD), a clinical condition including congenital malformations, developmental delay, intellectual disability as well as...
8.
Di Fede E, Peron A, Colombo E, Gervasini C, Vignoli A
Am J Med Genet A
. 2021 Apr;
185(7):2238-2240.
PMID: 33821533
No abstract available.
9.
Insights into the Role of the Microbiota and of Short-Chain Fatty Acids in Rubinstein-Taybi Syndrome
Di Fede E, Ottaviano E, Grazioli P, Ceccarani C, Galeone A, Parodi C, et al.
Int J Mol Sci
. 2021 Apr;
22(7).
PMID: 33807238
The short-chain fatty acid butyrate, produced by the gut microbiota, acts as a potent histone deacetylase (HDAC) inhibitor. We assessed possible ameliorative effects of butyrate, relative to other HDAC inhibitors,...
10.
Grazioli P, Parodi C, Mariani M, Bottai D, Di Fede E, Zulueta A, et al.
Cell Death Discov
. 2021 Feb;
7(1):34.
PMID: 33597506
Cornelia de Lange Syndrome (CdLS) is a rare developmental disorder affecting a multitude of organs including the central nervous system, inducing a variable neurodevelopmental delay. CdLS malformations derive from the...