PYGM

Last update 08 May 2025

Basic Info

Synonyms

glycogen phosphorylase, muscle associated, Glycogen phosphorylase, muscle form, glycogen storage disease type V

+ [6]

Introduction

Allosteric enzyme that catalyzes the rate-limiting step in glycogen catabolism, the phosphorolytic cleavage of glycogen to produce glucose-1-phosphate, and plays a central role in maintaining cellular and organismal glucose homeostasis.

100 Clinical Results associated with PYGM

100 Translational Medicine associated with PYGM

0 Patents (Medical) associated with PYGM

532

Literatures (Medical) associated with PYGM

01 Apr 2025·Biochemical Genetics

Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort

Article

Author: Tehrani Fateh, Sahand ; Hashemi-Gorji, Farzad ; Miryounesi, Mohammad ; Salehpour, Shadab ; Mirfakhraie, Reza ; Norouzi Rostami, Fatemeh ; Jamshidi, Sanaz ; Ghasemi, Mohammad-Reza ; Sadeghi, Hossein ; Moghimi, Parinaz

Glycogen storage diseases (GSDs) are a group of rare inherited metabolic disorders characterized by clinical, locus, and allele heterogeneity. This study aims to investigate the phenotype and genotype spectrum of GSDs in a cohort of 14 families from Iran using whole-exome sequencing (WES) and variant analysis. WES was performed on 14 patients clinically suspected of GSDs. Variant analysis was performed to identify genetic variants associated with GSDs. A total of 13 variants were identified, including six novel variants, and seven previously reported pathogenic variants in genes such as AGL, G6PC, GAA, PYGL, PYGM, GBE1, SLC37A4, and PHKA2. Most types of GSDs observed in the cohort were associated with hepatomegaly, which was the most common clinical presentation. This study provides valuable insights into the phenotype and genotype spectrum of GSDs in a cohort of Iranian patients. The identification of novel variants adds to the growing body of knowledge regarding the genetic landscape of GSDs and has implications for genetic counseling and future therapeutic interventions. The diverse nature of GSDs underscores the need for comprehensive genetic testing methods to improve diagnostic accuracy. Continued research in this field will enhance our understanding of GSDs, ultimately leading to improved management and outcomes for individuals affected by these rare metabolic disorders.

01 Apr 2025·International Journal of Biological Macromolecules

Molecular characterization of AMP-activated protein kinase (AMPK) α1/α2 from Cyprinus carpio and its roles in glucolipid metabolism and immune response

Article

Author: Li, Yijie ; Yang, Liping ; Nie, Guoxing ; Yan, Xiao ; Zhi, Shaoyang ; Zhao, Mengjuan ; Wang, Junli ; Qin, Chaobin ; Wang, Yiran

AMPKα1 and AMPKα2, key kinases in regulating energy homeostasis, have not been previously cloned or characterized in common carp (Cyprinus carpio). This study identified the open reading frame (ORF) sequences of ampkα1 (1722 bp, encoding 573 amino acids) and ampkα2 (1659 bp, encoding 552 amino acids) through homologous cloning. Sequence alignment and phylogenetic analysis showed a high similarity of both genes with fish homologs. Expression analysis revealed that ampkα1 and ampkα2 are widely expressed across tissues in carp, with ampkα1 highly expressed in the gonads and ampkα2 in the heart. Fasting significantly reduced ampkα1 expression in the heart, adipose tissue, and foregut but increased it in the hindgut and white muscle. Similarly, ampkα2 expression decreased in the hypothalamus and muscle during fasting, with an increase in the midgut. Glucose tolerance tests showed dynamic regulation of ampkα1 and ampkα2, with initial downregulation followed by upregulation in the hepatopancreas, red muscle, and brain. High-glucose and high-fat diets significantly increased ampkα1 and ampkα2 expression in multiple tissues. Insulin and glucagon treatment induced time-dependent changes in both genes in hepatocytes, while Aeromonas hydrophila infection, LPS, and Poly (I:C) stimulation upregulated ampkα1 and ampkα2 in immune-related tissues. Knockdown of ampkα2, but not ampkα1, reduced glut1b mRNA levels, while both knockdowns of ampkα1 and ampkα2 promoted the expression of gsk3β, pygm, acc, fas, srebp, cs, and pro-inflammatory cytokines, suggesting their involvement in metabolic and immune regulation in carp.

01 Mar 2025·Current Cancer Drug Targets

The Necroptotic Process-related Signature Predicts Immune Infiltration and Drug Sensitivity in Kidney Renal Papillary Cell Carcinoma

Article

Author: Lin, Wenfeng ; Huang, Peng ; Xue, Ruizhi ; Ueki, Hideo

Background:It remains controversial whether the current subtypes of kidney renal papillary cell carcinoma (KIRP) can be used to predict the prognosis independently.Objective:This observational study aimed to identify a risk signature based on necroptotic process- related genes (NPRGs) in KIRP.Methods:In the training cohort, LASSO regression was applied to construct the risk signature from 158 NPRGs, followed by the analysis of Overall Survival (OS) using the Kaplan-Meier method. The signature accuracy was evaluated by the Receiver Operating Characteristic (ROC) curve, which was further validated by the test cohort. Wilcoxon test was used to compare the expressions of immune-related genes, neoantigen genes, and immune infiltration between different risk groups, while the correlation test was performed between NPRGs expressions and drug sensitivity. Gene set enrichment analysis was used to investigate the NPRGs' signature’s biological functions.Results:We finally screened out 4-NPRGs (BIRC3, CAMK2B, PYGM, and TRADD) for constructing the risk signature with the area under the ROC curve (AUC) reaching about 0.8. The risk score could be used as an independent OS predictor. Consistent with the enriched signaling, the NPRGs signature was found to be closely associated with neoantigen, immune cell infiltration, and immune-related functions. Based on NPRGs expressions, we also predicted multiple drugs potentially sensitive or resistant to treatment.Conclusion:The novel 4-NPRGs risk signature can predict the prognosis, immune infiltration, and therapeutic sensitivity of KIRP.

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PYGM

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