Davide Cacchiarelli
Overview
Explore the profile of Davide Cacchiarelli including associated specialties, affiliations and a list of published articles.
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Articles
58
Citations
7224
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Recent Articles
1.
Fecarotta S, Vaccaro L, Verde A, Alagia M, Rossi A, Colantuono C, et al.
Orphanet J Rare Dis
. 2025 Jan;
20(1):38.
PMID: 39856690
Background: Newborn screening (NBS) programs have significantly improved the health and outcomes of patients with inherited metabolic disorders (IMDs). Methods based on liquid chromatography/mass spectrometry (LC-MS/MS) analysis are viewed worldwide...
2.
Gerli M, Cala G, Beesley M, Sina B, Tullie L, Sun K, et al.
Nat Med
. 2025 Jan;
31(2):699.
PMID: 39838120
No abstract available.
3.
Micale L, Vourlia A, Fusco C, Pracella R, Karagiannis D, Nardella G, et al.
Eur J Hum Genet
. 2024 Dec;
PMID: 39668184
Heterozygous deleterious null alleles and specific missense variants in the DNA-binding domain of the ETS2 repressor factor (ERF) cause craniosynostosis, while the recurrent p.(Tyr89Cys) missense variant is associated with Chitayat...
4.
Glass M, Whye D, Anderson N, Wood D, Makhortova N, Polanco T, et al.
bioRxiv
. 2024 Nov;
PMID: 39605742
CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy resulting from variants in cyclin-dependent kinase-like 5 (CDKL5) that lead to impaired kinase activity or loss of function. CDD...
5.
Tiano S, Landi N, Marano V, Ragucci S, Bianco G, Cacchiarelli D, et al.
Int J Biol Macromol
. 2024 Sep;
280(Pt 1):135700.
PMID: 39288862
SARS-CoV-2 pandemic clearly demonstrated the lack of preparation against novel and emerging viral diseases. This prompted an enormous effort to identify antivirals to curb viral spread and counteract future pandemics....
6.
Cesana M, Tufano G, Panariello F, Zampelli N, Soldati C, Mutarelli M, et al.
Cell Death Differ
. 2024 Jul;
31(11):1439-1451.
PMID: 38965447
TFEB, a bHLH-leucine zipper transcription factor belonging to the MiT/TFE family, globally modulates cell metabolism by regulating autophagy and lysosomal functions. Remarkably, loss of TFEB in mice causes embryonic lethality...
7.
Cesana D, Cicalese M, Calabria A, Merli P, Caruso R, Volpin M, et al.
Nat Commun
. 2024 Apr;
15(1):3662.
PMID: 38688902
Hematopoietic stem cell gene therapy (GT) using a γ-retroviral vector (γ-RV) is an effective treatment for Severe Combined Immunodeficiency due to Adenosine Deaminase deficiency. Here, we describe a case of...
8.
Ciciriello F, Panariello F, Medino P, Biffi A, Alghisi F, Rosazza C, et al.
J Cyst Fibros
. 2024 Mar;
23(4):625-632.
PMID: 38508950
Background: People with cystic fibrosis (pwCF) are considered at risk of developing severe forms of respiratory viral infections. We studied the consequences of COVID-19 and virus-host cell interactions in CF...
9.
Morlino S, Vaccaro L, Leone M, Nardella G, Bisceglia L, Ortore R, et al.
J Hum Genet
. 2024 Mar;
69(6):287-290.
PMID: 38448605
Rare heterozygous variants in exons 33-34 of the SRCAP gene are associated with Floating-Harbor syndrome and have a dominant-negative mechanism of action. At variance, heterozygous null alleles falling in other...
10.
Gerli M, Cala G, Beesley M, Sina B, Tullie L, Sun K, et al.
Nat Med
. 2024 Mar;
30(3):875-887.
PMID: 38438734
Isolation of tissue-specific fetal stem cells and derivation of primary organoids is limited to samples obtained from termination of pregnancies, hampering prenatal investigation of fetal development and congenital diseases. Therefore,...