Alejandra Gamez

Madrid, MD, Spain

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 14 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

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

A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones.

A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones.

Journal: Human mutation

Published: February 10, 2022

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

Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations.

Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations.

Journal: Molecular genetics and metabolism

Published: August 07, 2018

New perspectives for pharmacological chaperoning treatment in methylmalonic aciduria cblB type.

New perspectives for pharmacological chaperoning treatment in methylmalonic aciduria cblB type.

Journal: Biochimica et biophysica acta. Molecular basis of disease

Published: August 03, 2017

Protein misfolding diseases: Prospects of pharmacological treatment.

Protein misfolding diseases: Prospects of pharmacological treatment.

Journal: Clinical genetics

Published: April 21, 2017

DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress.

DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress.

Journal: PloS one

Published: February 08, 2017

Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG.

Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG.

Journal: Human mutation

Published: July 04, 2016

Showing 1-12 of 14

Last Updated: 09/26/2026