Phosphoglycerate Mutase Deficiency Latest Advances

C-Branched Iminosugars as Selective Pharmacological Chaperones of Lysosomal α-Glucosidase for the Treatment of Pompe Disease.

Journal: Journal of medicinal chemistry

Published: September 15, 2025

Targeting the Metabolic Enzyme PGAM2 Overcomes Enzalutamide Resistance in Castration-Resistant Prostate Cancer by Inhibiting BCL2 Signaling.

Journal: Cancer research

Published: January 30, 2023

Identification and functional analysis of a novel de novo missense mutation located in the initiation codon of LAMP2 associated with early onset female Danon disease.

Journal: Molecular genetics & genomic medicine

Published: December 07, 2022

Integrative network-based approaches identified systems-level molecular signatures associated with gallbladder cancer pathogenesis from gallstone diseases.

Journal: Journal of biosciences

Published: October 12, 2022

Sumoylation-deficient phosphoglycerate mutase 2 impairs myogenic differentiation.

Journal: Frontiers in cell and developmental biology

Published: September 23, 2022

Novel PHKA1 mutation in glycogen storage disease type IXD with typical myotonic discharges.

Journal: CNS neuroscience & therapeutics

Published: May 11, 2022

A 78-year-old Japanese male with late-onset PHKA1-associated distal myopathy: Case report and literature review.

Journal: Neuromuscular disorders : NMD

Published: October 20, 2021

Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X.

Journal: European journal of medical genetics

Published: May 04, 2021

Sex Differences and the Influence of an Active Lifestyle on Adiposity in Patients with McArdle Disease.

Journal: International journal of environmental research and public health

Published: May 21, 2020

Pulmonary growth abnormalities as etiologies for pediatric pulmonary hypertension.

Journal: Pediatric pulmonology

Published: August 27, 2019

Pulmonary interstitial glycogenosis - A systematic analysis of new cases.

Journal: Respiratory medicine

Published: May 03, 2018

Dental and periodontal manifestations of glycogen storage diseases: a case series of 60 patients.

Journal: Journal of inherited metabolic disease

Published: February 07, 2018

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C-Branched Iminosugars as Selective Pharmacological Chaperones of Lysosomal α-Glucosidase for the Treatment of Pompe Disease.

C-Branched Iminosugars as Selective Pharmacological Chaperones of Lysosomal α-Glucosidase for the Treatment of Pompe Disease.

Targeting the Metabolic Enzyme PGAM2 Overcomes Enzalutamide Resistance in Castration-Resistant Prostate Cancer by Inhibiting BCL2 Signaling.

Targeting the Metabolic Enzyme PGAM2 Overcomes Enzalutamide Resistance in Castration-Resistant Prostate Cancer by Inhibiting BCL2 Signaling.

Identification and functional analysis of a novel de novo missense mutation located in the initiation codon of LAMP2 associated with early onset female Danon disease.

Identification and functional analysis of a novel de novo missense mutation located in the initiation codon of LAMP2 associated with early onset female Danon disease.

Integrative network-based approaches identified systems-level molecular signatures associated with gallbladder cancer pathogenesis from gallstone diseases.

Integrative network-based approaches identified systems-level molecular signatures associated with gallbladder cancer pathogenesis from gallstone diseases.

Sumoylation-deficient phosphoglycerate mutase 2 impairs myogenic differentiation.

Sumoylation-deficient phosphoglycerate mutase 2 impairs myogenic differentiation.

Novel PHKA1 mutation in glycogen storage disease type IXD with typical myotonic discharges.

Novel PHKA1 mutation in glycogen storage disease type IXD with typical myotonic discharges.

A 78-year-old Japanese male with late-onset PHKA1-associated distal myopathy: Case report and literature review.

A 78-year-old Japanese male with late-onset PHKA1-associated distal myopathy: Case report and literature review.

Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X.

Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X.

Sex Differences and the Influence of an Active Lifestyle on Adiposity in Patients with McArdle Disease.

Sex Differences and the Influence of an Active Lifestyle on Adiposity in Patients with McArdle Disease.

Pulmonary growth abnormalities as etiologies for pediatric pulmonary hypertension.

Pulmonary growth abnormalities as etiologies for pediatric pulmonary hypertension.

Pulmonary interstitial glycogenosis - A systematic analysis of new cases.

Pulmonary interstitial glycogenosis - A systematic analysis of new cases.

Dental and periodontal manifestations of glycogen storage diseases: a case series of 60 patients.

Dental and periodontal manifestations of glycogen storage diseases: a case series of 60 patients.