Diego Martinelli
Overview
Explore the profile of Diego Martinelli including associated specialties, affiliations and a list of published articles.
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Articles
136
Citations
2948
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Recent Articles
1.
Safarikia S, Cirelli R, Spagnoletti G, Martinelli D, Bravetti G, Francalanci P, et al.
J Inherit Metab Dis
. 2025 Mar;
48(2):e70010.
PMID: 40026238
The human liver plays a central metabolic role; however, its physiology may become imbalanced in inborn errors of metabolism (IEM), a broad category of monogenic disorders. Liver transplantation has been...
2.
Siri B, Greco B, Martinelli D, Cairoli S, Guarnera A, Longo D, et al.
J Inherit Metab Dis
. 2025 Jan;
48(1):e12843.
PMID: 39776112
Liver transplantation (LTx) is increasingly used in Urea Cycle Defects (UCDs) to prevent recurrent hyperammonemia and related neurological irreversible injury. Among UCDs, argininosuccinate lyase deficiency (ASLD) has a more complex...
3.
Dellepiane F, Moltoni G, Ronci S, Guarnera A, Rossi-Espagnet M, Digilio M, et al.
Biomedicines
. 2025 Jan;
12(12.
PMID: 39767685
The glycosylphosphatidylinositol (GPI) is a glycol-lipid that anchors several proteins to the cell surface. The GPI-anchor pathway is crucial for the correct function of proteins involved in cell function, and...
4.
Maines E, Gugelmo G, Maiorana A, Martinelli D, Vitturi N, Lenzini L, et al.
J Diabetes Metab Disord
. 2024 Dec;
24(1):27.
PMID: 39735177
Background: Untreated patients affected by hereditary fructose intolerance (HFI) present an abnormal transferrin (Tf) glycosylation pattern suggestive of N-hypoglycosylation. Analysis of defects in N-glycosylation is possible by analysis of serum...
5.
Vecchio D, Macchiaiolo M, Gonfiantini M, Panfili F, Petrizzelli F, Liorni N, et al.
Front Genet
. 2024 Dec;
15:1477940.
PMID: 39722796
Introduction: Infantile hypotonia with psychomotor retardation and characteristic facies-1 (IHPRF1, MIM#615419) is a rare, birth onset, autosomal recessive disorder caused by homozygous or compound heterozygous truncating variants in gene (MIM#611549)...
6.
Sikic K, Peters T, Engelke U, Ramadza D, Zigman T, Fumic K, et al.
JIMD Rep
. 2024 Nov;
65(6):361-370.
PMID: 39512429
Huppke-Brendel syndrome (HBS) is an autosomal recessive disorder caused by mutations, a gene coding for the acetyl-CoA transporter-1 (AT-1). So far it has been described in nine pediatric and one...
7.
Dafsari H, Martinelli D, Saffari A, Ebrahimi-Fakhari D, Fanto M, Dionisi-Vici C, et al.
J Inherit Metab Dis
. 2024 Oct;
48(1):e12798.
PMID: 39420677
Macroautophagy is a highly conserved cellular pathway for the degradation and recycling of defective cargo including proteins, organelles, and macromolecular complexes. As autophagy is particularly relevant for cellular homeostasis in...
8.
Di Nottia M, Rizza T, Baruffini E, Nesti C, Torraco A, Diodato D, et al.
Front Genet
. 2024 Sep;
15:1437959.
PMID: 39233737
Background: Mitochondria adjust their shape in response to the different energetic and metabolic requirements of the cell, through extremely dynamic fusion and fission events. Several highly conserved dynamin-like GTPases are...
9.
Olivieri G, Greco B, Cairoli S, Catesini G, Lepri F, Orazi L, et al.
J Inherit Metab Dis
. 2024 Aug;
48(1):e12787.
PMID: 39152755
Cobalamin C (Cbl-C) defect causes methylmalonic acidemia, homocystinuria, intellectual disability and visual impairment, despite treatment adherence. While international guidelines recommend parenteral hydroxocobalamin (OH-Cbl) as effective treatment, dose adjustments remain unclear....
10.
Colombo R, Maxit C, Martinelli D, Anderson M, Masone D, Mayorga L
Biochim Biophys Acta Mol Basis Dis
. 2024 May;
1870(6):167261.
PMID: 38777099
PURA, also known as Pur-alpha, is an evolutionarily conserved DNA/RNA-binding protein crucial for various cellular processes, including DNA replication, transcriptional regulation, and translational control. Comprising three PUR domains, it engages...