Diana Gallego

Madrid, MD, Spain

Last Updated: 09/26/2026

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Found 37 publications

Proteo-Metabolomic Profiling of PMM2-CDG Reveals Dysregulation of Retinoic Acid Synthesis, Myo-Inositol, and the Hexosamine Pathway.

Proteo-Metabolomic Profiling of PMM2-CDG Reveals Dysregulation of Retinoic Acid Synthesis, Myo-Inositol, and the Hexosamine Pathway.

Journal: Journal of inherited metabolic disease

Published: August 06, 2025

Unraveling the biological potential of skin fibroblast: responses to TNF-α, highlighting intracellular signaling pathways and secretome.

Unraveling the biological potential of skin fibroblast: responses to TNF-α, highlighting intracellular signaling pathways and secretome.

Journal: Immunology letters

Published: March 11, 2025

HepG2 PMM2-CDG knockout model: A versatile platform for variant and therapeutic evaluation.

HepG2 PMM2-CDG knockout model: A versatile platform for variant and therapeutic evaluation.

Journal: Molecular genetics and metabolism

Published: February 19, 2024

Transcriptomic analysis identifies dysregulated pathways and therapeutic targets in PMM2-CDG.

Transcriptomic analysis identifies dysregulated pathways and therapeutic targets in PMM2-CDG.

Journal: Biochimica et biophysica acta. Molecular basis of disease

Published: November 22, 2023

Exploring miRNA-target gene pair detection in disease with coRmiT.

Exploring miRNA-target gene pair detection in disease with coRmiT.

Journal: Briefings in bioinformatics

Published: September 21, 2023

Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community.

Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community.

Journal: Orphanet journal of rare diseases

Published: August 09, 2023

Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.

Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.

Journal: International journal of molecular sciences

Published: September 15, 2022

Evaluating, Filtering and Clustering Genetic Disease Cohorts Based on Human Phenotype Ontology Data with Cohort Analyzer.

Evaluating, Filtering and Clustering Genetic Disease Cohorts Based on Human Phenotype Ontology Data with Cohort Analyzer.

Journal: Journal of personalized medicine

Published: June 05, 2021

Gene expression analysis method integration and co-expression module detection applied to rare glucide metabolism disorders using ExpHunterSuite.

Gene expression analysis method integration and co-expression module detection applied to rare glucide metabolism disorders using ExpHunterSuite.

Journal: Scientific reports

Published: May 19, 2021

New and potential strategies for the treatment of PMM2-CDG.

New and potential strategies for the treatment of PMM2-CDG.

Journal: Biochimica et biophysica acta. General subjects

Published: June 30, 2020

Proteostasis regulators as potential rescuers of PMM2 activity.

Proteostasis regulators as potential rescuers of PMM2 activity.

Journal: Biochimica et biophysica acta. Molecular basis of disease

Published: February 01, 2020

Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia.

Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia.

Journal: Human mutation

Published: December 30, 2019

Showing 1-12 of 37

Last Updated: 09/26/2026