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Type-VI glycogen storage disease with compound mutation of the PYGL gene

Asian journal of surgery, 2024-04, Vol.47 (4), p.1919-1920

2024

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Selenoprotein F (SELENOF)-mediated AKT1-FOXO3a-PYGL axis contributes to selenium supranutrition-induced glycogenolysis and lipogenesis

Biochimica et biophysica acta. Gene regulatory mechanisms, 2022-04, Vol.1865 (3), p.194814-194814, Article 194814

2022

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PYGL-mediated glucose metabolism reprogramming promotes EMT phenotype and metastasis of pancreatic cancer

International journal of biological sciences, 2023-01, Vol.19 (6), p.1894-1909

2023

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Genotypic and phenotypic characteristics of 12 chinese children with glycogen storage diseases

Frontiers in genetics, 2022-08, Vol.13, p.932760-932760

2022

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High PYGL Expression Predicts Poor Prognosis in Human Gliomas

Frontiers in neurology, 2021-06, Vol.12, p.652931-652931

2021

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Integrated genomic and proteomic analyses identify PYGL as a novel experimental therapeutic target for clear cell renal cell carcinoma

Heliyon, 2024-03, Vol.10 (6), p.e28295-e28295, Article e28295

2024

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Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China

Human mutation, 2022-05, Vol.43 (5), p.557-567

2022

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Glycogen storage disease type VI with a novel PYGL mutation: Two case reports and literature review

Medicine (Baltimore), 2021-04, Vol.100 (16), p.e25520-e25520

2021

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The vitamin B6-regulated enzymes PYGL and G6PD fuel NADPH oxidases to promote skin inflammation

Developmental and comparative immunology, 2020-07, Vol.108, p.103666-103666, Article 103666

2020

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Identification of glycogen phosphorylase L as a potential target for lung cancer

Medical oncology (Northwood, London, England), 2023-06, Vol.40 (7), p.211-211, Article 211

2023

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Glycogen storage disease type VI can progress to cirrhosis: ten Chinese patients with GSD VI and a literature review

Journal of Pediatric Endocrinology and Metabolism, 2020-10, Vol.33 (10), p.1321-1333

2020

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Clinical and genetic spectrum of GSD type 6 in Korea

Orphanet journal of rare diseases, 2023-06, Vol.18 (1), p.132-132, Article 132

2023

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Cellular hierarchy framework based on single-cell/multi-patient sample sequencing reveals metabolic biomarker PYGL as a therapeutic target for HNSCC

Journal of experimental & clinical cancer research, 2023-07, Vol.42 (1), p.162-162, Article 162

2023

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Identification of PYGL as a key prognostic gene of glioma by integrated bioinformatics analysis

Future oncology (London, England), 2022-02, Vol.18 (5), p.579-596

2022

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Hepatic glycogenolysis is determined by maternal high-calorie diet via methylation of Pygl and it is modified by oteocalcin administration in mice

Molecular metabolism (Germany), 2021-12, Vol.54, p.101360-101360, Article 101360

2021

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Successful pregnancy in a woman with glycogen storage disease type 6

Molecular genetics and metabolism reports, 2021-06, Vol.27, p.100770-100770, Article 100770

2021

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Analysis of the expression, function and signaling of glycogen phosphorylase isoforms in hepatocellular carcinoma

Oncology letters, 2022-08, Vol.24 (2), p.1, Article 244

2022

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The Phenotypic and Genetic Spectrum of Glycogen Storage Disease Type VI

Genes, 2021-08, Vol.12 (8), p.1205

2021

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The Menopausal Transition: Is the Hair Follicle “Going through Menopause”?

Biomedicines, 2023-11, Vol.11 (11), p.3041

2023

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miR-155-5p regulates hypoxia-induced pulmonary artery smooth muscle cell function by targeting PYGL

Bioengineered, 2022-05, Vol.13 (5), p.12985-12997

2022

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Long noncoding RNA KCNMB2-AS1 promotes the development of esophageal cancer by modulating the miR-3194-3p/PYGL axis

Bioengineered, 2021-01, Vol.12 (1), p.6687-6702

2021

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Glycogen Storage Disease Phenotypes Accompanying the Perturbation of the Methionine Cycle in NDRG3-Deficient Mouse Livers

Cells (Basel, Switzerland), 2022-05, Vol.11 (9), p.1536

2022

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Systematic Surveys of Iron Homeostasis Mechanisms Reveal Ferritin Superfamily and Nucleotide Surveillance Regulation to be Modified by PINK1 Absence

Cells (Basel, Switzerland), 2020-10, Vol.9 (10), p.2229

2020

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Liver glycogen storage diseases due to phosphorylase system deficiencies: Diagnosis thanks to non invasive blood enzymatic and molecular studies

Molecular genetics and metabolism, 2011-09, Vol.104 (1-2), p.137-143

2011

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Intermittent and recurrent hepatomegaly due to glycogen storage in a patient with type 1 diabetes: Genetic analysis of the liver glycogen phosphorylase gene ( PYGL)

Diabetes research and clinical practice, 2004-08, Vol.65 (2), p.175-182

2004

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Type-VI glycogen storage disease with compound mutation of the PYGL gene

Selenoprotein F (SELENOF)-mediated AKT1-FOXO3a-PYGL axis contributes to selenium supranutrition-induced glycogenolysis and lipogenesis

PYGL-mediated glucose metabolism reprogramming promotes EMT phenotype and metastasis of pancreatic cancer

Genotypic and phenotypic characteristics of 12 chinese children with glycogen storage diseases

High PYGL Expression Predicts Poor Prognosis in Human Gliomas

Integrated genomic and proteomic analyses identify PYGL as a novel experimental therapeutic target for clear cell renal cell carcinoma

Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China

Glycogen storage disease type VI with a novel PYGL mutation: Two case reports and literature review

The vitamin B6-regulated enzymes PYGL and G6PD fuel NADPH oxidases to promote skin inflammation

Identification of glycogen phosphorylase L as a potential target for lung cancer

Glycogen storage disease type VI can progress to cirrhosis: ten Chinese patients with GSD VI and a literature review

Clinical and genetic spectrum of GSD type 6 in Korea

Cellular hierarchy framework based on single-cell/multi-patient sample sequencing reveals metabolic biomarker PYGL as a therapeutic target for HNSCC

Identification of PYGL as a key prognostic gene of glioma by integrated bioinformatics analysis

Hepatic glycogenolysis is determined by maternal high-calorie diet via methylation of Pygl and it is modified by oteocalcin administration in mice

Successful pregnancy in a woman with glycogen storage disease type 6

Analysis of the expression, function and signaling of glycogen phosphorylase isoforms in hepatocellular carcinoma

The Phenotypic and Genetic Spectrum of Glycogen Storage Disease Type VI

The Menopausal Transition: Is the Hair Follicle “Going through Menopause”?

miR-155-5p regulates hypoxia-induced pulmonary artery smooth muscle cell function by targeting PYGL

Long noncoding RNA KCNMB2-AS1 promotes the development of esophageal cancer by modulating the miR-3194-3p/PYGL axis

Glycogen Storage Disease Phenotypes Accompanying the Perturbation of the Methionine Cycle in NDRG3-Deficient Mouse Livers

Systematic Surveys of Iron Homeostasis Mechanisms Reveal Ferritin Superfamily and Nucleotide Surveillance Regulation to be Modified by PINK1 Absence

Liver glycogen storage diseases due to phosphorylase system deficiencies: Diagnosis thanks to non invasive blood enzymatic and molecular studies

Intermittent and recurrent hepatomegaly due to glycogen storage in a patient with type 1 diabetes: Genetic analysis of the liver glycogen phosphorylase gene ( PYGL)

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