Irene Serrano‐Gonzalo

R scripts for gene-specific in silico predictor benchmarking: A Gene-Specific Computational Framework for Variant Interpretation in Lysosomal Disorders

Isidro Arévalo-Vargas, Laura López de Frutos, Irene Serrano‐Gonzalo, Sonia Roca Esteve et autres

R scripts used to calculate predictor performance metrics (sensitivity, specificity, accuracy, precision, MCC, AUC) and generate ROC curves for 27 lysosomal disease-associated genes, as described in "A Gene-Specific Computational Framework for Variant Interpretation in Lysosomal Disorders"

es, co, it (code pays fourni par la source)

R scripts for gene-specific in silico predictor benchmarking: A Gene-Specific Computational Framework for Variant Interpretation in Lysosomal Disorders

Isidro Arévalo-Vargas, Laura López de Frutos, Irene Serrano‐Gonzalo, Sonia Roca Esteve et autres

R scripts used to calculate predictor performance metrics (sensitivity, specificity, accuracy, precision, MCC, AUC) and generate ROC curves for 27 lysosomal disease-associated genes, as described in "A Gene-Specific Computational Framework for Variant Interpretation in Lysosomal Disorders"

es, co, it (code pays fourni par la source)

Clinical Variability and Genotype–Phenotype Correlation in Spanish Patients with Type 1 Gaucher Disease: A Focus on Non-c.[1226A>G]; [1448T>C] Genotypes

Irene Serrano‐Gonzalo, F. Bauzá Mingueza, Laura López de Frutos, Isidro Arévalo-Vargas et autres

The clinical heterogeneity of type 1 Gaucher disease (GD1) underscores the limited correlation between the GBA1 genotype and phenotype. This study examined GD1 patients from the Spanish Gaucher Disease Registry carrying heterozygous GBA1 genotypes distinct from NM_000157: c.[1226A>G](N370S); [1448T>C](L444P). Among 374 patients …

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Expression Profiles of Exosomal miRNAs in Gaucher Patients and Their Association With Severity of Bone Involvement

Irene Serrano‐Gonzalo, Laura López de Frutos, María Sancho‐Albero, Mercedes Roca‐Espiau et autres

Bone manifestations are one of the most prevalent complications in patients with Gaucher disease (GD). Bone involvement is evaluated by using imaging methods, and there are different scores to assess its severity. However, there are no biomarkers that allow us to predict …

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Neutrophil extracellular traps and macrophage activation contibute to thrombosis and post-covid syndrome in SARS-CoV-2 infection

Irene Serrano‐Gonzalo, Bárbara Menéndez-Jandula, Esther Franco-García, Isidro Arévalo-Vargas et autres

Background: SARS-CoV-2 infection activates macrophages and induces the release of neutrophil extracellular traps (NETs). Excess NETs is linked to inflammatory and thrombotic complications observed in COVID-19. Aim: To explore the impact of NETs and macrophage activation on SARS-CoV-2-infected patients who developed complications. …

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Clinical variability in Gaucher disease associated with the c.1880 T > G (D409H) variant in GBA1

Isidro Arevalo-Vargas, Irene Serrano‐Gonzalo, Sonia Roca-Esteve, Ralf Köhler et autres

Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease

Javier de las Heras, Carolina Almohalla, Javier Blasco‐Alonso, Mafalda Bourbon et autres

Lysosomal acid lipase deficiency (LAL-D) is an ultra-rare lysosomal storage disease with two distinct phenotypes, an infantile-onset form (formerly Wolman disease) and a later-onset form (formerly cholesteryl ester storage disease). The objective of this narrative review is to examine the most important …

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Pyruvate from bone marrow mesenchymal stem cells supports myeloma redox homeostasis and anabolism

Elías Vera-Sigüenza, Cristina Escribano-Gonzalez, Irene Serrano‐Gonzalo, Kattri‐Liis Eskla et autres

Abstract Multiple myeloma is an incurable cancer of plasma cells that depends on the bone marrow for its survival. Despite its prevalence, the molecular mechanisms underlying this malignancy remain poorly understood. In this study, we aim to bridge this knowledge gap by …

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Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease

María José de Castro, Simon Jones, Javier de las Heras, Paula Sánchez‐Pintos et autres

BACKGROUND: Sebelipase alfa (Kanuma®) is approved for patients with Wolman disease (WD) at a dosage of 3-5 mg/kg once weekly. Survival rates in the second of two clinical trials was greater, despite recruiting more severely ill patients, probably related to higher initial …

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Real life data: follow-up assessment on Spanish Gaucher disease patients treated with eliglustat. TRAZELGA project

Irene Serrano‐Gonzalo, Laura López de Frutos, Carlos Lahoz-Gil, Francisco Delgado-Mateos et autres

BACKGROUND: The availability of multiple treatments for type 1 Gaucher disease increases the need for real-life studies to evaluate treatment efficacy and safety and provide clinicians with more information to choose the best personalized therapy for their patients. AIMS: To determine whether …

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Mathematical reconstruction of the metabolic network in an in-vitro multiple myeloma model

Elías Vera-Sigüenza, Cristina Escribano-Gonzalez, Irene Serrano‐Gonzalo, Kattri‐Liis Eskla et autres

It is increasingly apparent that cancer cells, in addition to remodelling their metabolism to survive and proliferate, adapt and manipulate the metabolism of other cells. This property may be a telling sign that pre-clinical tumour metabolism studies exclusively utilising in-vitro mono-culture models …

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P1662: STUDY OF THE DEVELOPMENT AND INVOLVEMENT OF NEUTROPHIL EXTRACELLULAR TRAPS (NETS) IN VASCULAR COMPLICATIONS IN LYSOSOMAL DISORDERS

Irene Serrano‐Gonzalo, S Esteve, Carlos Lahoz, Isidro Arévalo-Vargas et autres

Topic: 34. Thrombosis and vascular biology - Biology & Translational Research Background: Several storage disorders frequently develop vascular complications by different risk factors. Fabry disease (FD) is caused by variants in GLA gene (MIM * 300644), which codes the enzyme a-galactosidase A. …

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