Filippo Ingoglia

Challenges in the diagnosis of mucopolysaccharidosis type IVA

Marzia Pasquali, Yalda Saffary, Filippo Ingoglia, Judith A. Hobert et autres

Author Correction: AI is a viable alternative to high throughput screening: a 318-target study

Izhar Wallach, Denzil Bernard, Kong T. Nguyen, Gregory Ho et autres

As a result, the correct Affiliation for Andrew B. Herr, Benjamin Liou, David A. Hildeman, Joseph J. Maciag, Ying Sun, Durga Krishnamurthy, and Stephen N. Waggoner is:

us, br, sg, au, ca, nl, ch, be, it, gb, es (code pays fourni par la source)

MADD-like pattern of acylcarnitines associated with sertraline use

Filippo Ingoglia, Mohsen Ben Tanfous, Benjamin Ellezam, Katherine Anderson et autres

Multiple acyl-CoA dehydrogenase deficiency (MADD) is a primary mitochondrial dysfunction affecting mitochondrial fatty acid and protein metabolism, caused by biallelic pathogenic variants in ETFA, ETFB, or ETFDH genes. The heterogeneous phenotypes associated with MADD have been classified into three groups: neonatal onset …

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AI is a viable alternative to high throughput screening: a 318-target study

Izhar Wallach, Denzil Bernard, Kong T. Nguyen, Gregory Ho et autres

High throughput screening (HTS) is routinely used to identify bioactive small molecules. This requires physical compounds, which limits coverage of accessible chemical space. Computational approaches combined with vast on-demand chemical libraries can access far greater chemical space, provided that the predictive accuracy …

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PRIMARY CARNITINE DEFICIENCY: THE EFFECT OF 4-PHENYLBUTYRIC ACID ON NATURAL MUTATIONS

Marta Frigeni, Filippo Ingoglia, Bijina Balakrishnan, Marzia Pasquali et autres

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MADD-LIKE PATTERN IN PLASMA ACYLCARNITINE PROFILE ASSOCIATED WITH SERTRALINE USE

Filippo Ingoglia, Mohsen Ben Tanfous, Benjamin Ellezam, Katherine Anderson et autres

El manejo de los estertores de agonía en pacientes con miastenia gravis en situación terminal resulta especialmente complejo. Los fármacos comúnmente empleados en las secreciones respiratorias ruidosas y molestas en los últimos días de vida (escopolamina, buscapina, etc.) pueden precipitar una crisis …

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Creatine metabolism in patients with urea cycle disorders

Filippo Ingoglia, Jean-Leon Chong, Marzia Pasquali, Nicola Longo

The urea cycle generates arginine that is one of the major precursors for creatine biosynthesis . Here we evaluate levels of creatine and guanidinoacetate (the precursor in the synthesis of creatine) in plasma samples (n s = 207) of patients (n p …

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Analysis of LPI-causing mutations on y+LAT1 function and localization

Bianca Maria Rotoli, Amelia Barilli, Filippo Ingoglia, Rossana Visigalli et autres

y+LAT1, encoded by SCL7A7, is the protein mutated in Lysinuric Protein Intolerance (LPI), a rare metabolic disease caused by a defective cationic amino acid (CAA, arginine, lysine, ornithine) transport at the basolateral membrane of intestinal and renal tubular cells. The disease is …

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Downregulation of SLC7A7 Triggers an Inflammatory Phenotype in Human Macrophages and Airway Epithelial Cells

Bianca Maria Rotoli, Amelia Barilli, Rossana Visigalli, Filippo Ingoglia et autres

L for cationic amino acid transport. The pathogenesis of LPI is still unknown. In this study, we have utilized a gene silencing approach in macrophages and airway epithelial cells to investigate whether complications affecting lung and immune system are directly ascribable to …

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Gluten peptides drive healthy and celiac monocytes toward an M2-like polarization

Amelia Barilli, Federica Gaiani, Barbara Prandi, Martina Cirlini et autres

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Functional and molecular analysis of Organic Cation Transporters (OCTs and OCTNs) in human airway epithelial cells and macrophages

Filippo Ingoglia

FIRST ABSTRACT: Organic cation transporters (OCT1–3) mediate the transport of organic cations including inhaled drugs across the cell membrane, although their role in lung epithelium hasn't been well understood yet. We address here the expression and functional activity of OCT1–3 in human …

Human macrophage differentiation induces OCTN2–mediated L-carnitine transport through stimulation of mTOR–STAT3 axis

Filippo Ingoglia, Rossana Visigalli, Bianca Maria Rotoli, Amelia Barilli et autres

Abstract l-Carnitine, in addition to playing a fundamental role in the β-oxidation of fatty acids, has been recently identified as a modulator of immune function, although the mechanisms that underlie this role remain to be clarified. In this study, we addressed the …

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