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Giovanni Piccoli

Explore the profile of Giovanni Piccoli including associated specialties, affiliations and a list of published articles. Areas
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Articles 82
Citations 1794
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Recent Articles
1.
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...
2.
Regoni M, Zanetti L, Sevegnani M, Domenicale C, Magnabosco S, Patel J, et al.
Brain . 2024 Oct; 147(12):4017-4025. PMID: 39350737
Mutations in the PRKN gene encoding the protein parkin cause autosomal recessive juvenile parkinsonism (ARJP). Harnessing this mutation to create an early-onset Parkinson's disease mouse model would provide a unique...
3.
Maines E, Temporin G, Fedrizzi M, Pasqualini A, Junior Masnata L, Campomori A, et al.
Eur J Pharm Biopharm . 2024 Aug; 203:114429. PMID: 39097116
Background: sepiapterine reductase deficiency (SRD) is a rare levodopa (L-dopa)-responsive disorder treated with a combination therapy of controlled-release L-dopa and carbidopa. The currently available formulation of controlled-release carbidopa/L-dopa does not...
4.
Maines E, Franceschi R, Rivieri F, Piccoli G, Schulte B, Hoffmann J, et al.
Int J Neonatal Screen . 2024 Jul; 10(3). PMID: 39051409
Methylmalonyl-CoA epimerase enzyme (MCEE) is responsible for catalyzing the isomeric conversion between D- and L-methylmalonyl-CoA, an intermediate along the conversion of propionyl-CoA to succinyl-CoA. A dedicated test for MCEE deficiency...
5.
Sevegnani M, Lama A, Girardi F, Hess M, Castelo M, Pichler I, et al.
Biochim Biophys Acta Mol Basis Dis . 2024 Jun; 1870(7):167302. PMID: 38878834
Recessive mutations in the Parkin gene (PRKN) are the most common cause of young-onset inherited parkinsonism. Parkin is a multifunctional E3 ubiquitin ligase that plays a variety of roles in...
6.
Ferri Marini C, Micheli L, Grossi T, Federici A, Piccoli G, Zoffoli L, et al.
PeerJ . 2024 May; 12:e17158. PMID: 38711624
Background: Rating of perceived exertion (RPE) is considered a valid method for prescribing prolonged aerobic steady-state exercise (SSE) intensity due to its association with physiological indicators of exercise intensity, such...
7.
Habicher J, Sanvido I, Buhler A, Sartori S, Piccoli G, Carl M
Genes (Basel) . 2024 Mar; 15(3). PMID: 38540422
The immunoglobulin LAMP/OBCAM/NTM (IgLON) family of cell adhesion molecules comprises five members known for their involvement in establishing neural circuit connectivity, fine-tuning, and maintenance. Mutations in IgLON genes result in...
8.
Salluzzo M, Vianello C, Abdullatef S, Rimondini R, Piccoli G, Carboni L
Genes (Basel) . 2023 Oct; 14(10). PMID: 37895235
In the brain, cell adhesion molecules (CAMs) are critical for neurite outgrowth, axonal fasciculation, neuronal survival and migration, and synapse formation and maintenance. Among CAMs, the IgLON family comprises five...
9.
Maines E, Cardellini M, Stringari G, Leonardi L, Piccoli G, Urru S, et al.
Am J Perinatol . 2023 Oct; 41(S 01):e2850-e2861. PMID: 37848046
The prompt identification of at-risk newborns for drug-induced hypoglycemia can minimize the risk for adverse side effects, inappropriate investigations, and considerable unnecessary costs. Existing literature discusses drug-induced hypoglycemia, but a...
10.
Pischedda F, Ghirelli A, Tripathi V, Piccoli G
Pharmaceutics . 2023 Sep; 15(9). PMID: 37765276
Neuroblastoma is among the most common childhood cancers. Neuroblastoma in advanced stages is one of the most intractable pediatric cancers, notwithstanding the recent therapeutic advances. ALK mutations are among the...