Induced pluripotent stem cell (iPSC) modeling validates reduced GBE1 enzyme activity due to a novel variant, p.Ile694Asn, found in a patient with suspected glycogen storage disease IV [PDF]
Molecular Genetics and Metabolism ReportsBackground: Glycogen Storage disease type 4 (GSD4), a rare disease caused by glycogen branching enzyme 1 (GBE1) deficiency, affects multiple organ systems including the muscles, liver, heart, and central nervous system. Here we report a GSD4 patient, who
Loren Pena +2 more
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Unveiling GBE1 as a hypoxia-related prognostic gene with significant impact on immune cell infiltration in HER2-enriched breast cancer [PDF]
Discover OncologyHypoxia, a condition characterized by low oxygen availability, plays a significant role in cancer biology and tumor behavior. The interplay between hypoxia-related prognostic genes and immune cell infiltration is pivotal in shaping the clinical outcomes ...
Farkhonde Hasannejad +2 more
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Clinical genetic analysis of an adult polyglucosan body disease (APBD) family caused by the compound heterozygous variant of GBE1 p.R156C and deletion exon 3-7 [PDF]
Frontiers in GeneticsIntroductionAdult Polyglucosan Body Disease (APBD) is a rare, autosomal recessive neurodegenerative disorder that affects both the central and peripheral nervous systems. It is primarily caused by mutations in the Glycogen Branching Enzyme 1 (GBE1) gene.
Juan Zhu +14 more
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WTAP/IGF2BP3-mediated GBE1 expression accelerates the proliferation and enhances stemness in pancreatic cancer cells via upregulating c-Myc [PDF]
Cellular and Molecular Biology LettersBackground Pancreatic cancer (PC) is one of the most malignant cancers with highly aggressiveness and poor prognosis. N6-methyladenosine (m6A) have been indicated to be involved in PC development.
Weiwei Jin, Yuhan Fu, Xiangmin Tong
exaly +5 more sources
GBE1 Is an Independent Prognostic Marker and Associated With CD163+ Tumor-Associated Macrophage Infiltration in Lung Adenocarcinoma [PDF]
Frontiers in Oncology, 2022 Glycogen branching enzyme (GBE1) is a critical gene that participates in regulating glycogen metabolism. However, the correlations between GBE1 expression and the prognosis and tumor-associated macrophages in lung adenocarcinoma (LUAD) also remain ...
Minjun Du, Zixu Liu, Xiangzhi Meng
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Unifying the Communities of Early‐Onset Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease Through a Genetic Prevalence Study of GBE1‐Related Disease [PDF]
JIMD ReportsGlycogen storage disease type IV (GSD IV) is an autosomal recessive disorder caused by pathogenic variants in GBE1, resulting in deficient glycogen branching enzyme (GBE) activity and formation of abnormal glycogen (“polyglucosan”).
Rebecca L. Koch +13 more
doaj +3 more sources
Lung adenocarcinoma-intrinsic GBE1 signaling inhibits anti-tumor immunity [PDF]
Molecular Cancer, 2019 Background Changes in glycogen metabolism is an essential feature among the various metabolic adaptations used by cancer cells to adjust to the conditions imposed by the tumor microenvironment.
Lifeng Li, Zhirui Fan, Wenhua Xue
exaly +5 more sources
Identification of copper metabolism-related markers in Parkinson’s disease [PDF]
Annals of MedicineObjectives This study aimed to identify key genes related to copper metabolism in Parkinson’s disease (PD), providing insight into their roles in disease progression.Methods Using bioinformatic analyses, the study identified hub genes related to copper ...
Jie Lin +7 more
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Infant Born With Autosomal Recessive Glycogen Storage Disease Type IV due to Complete Maternal Isodisomy of Chromosome 3. [PDF]
Case Rep GenetUniparental disomy (UPD), the inheritance of two copies of a chromosome from one parent, can lead to recessive genetic disorders or imprinting effects. We report a case of autosomal recessive glycogen storage disease type 4 (GSD IV) due to maternal UPD of chromosome 3, representing the first reported instance of UPD leading to this rare disorder.
Olsen SS +6 more
europepmc +2 more sources
Geographical Variation Shapes Nutritional Metabolite Profile and Food Functionality of Houttuynia cordata [PDF]
MetabolitesBackground/Objectives: Houttuynia cordata Thunb., a widely consumed vegetable and traditional food in Asia, possesses significant nutritional value. However, the impact of geographical origin on its nutritional metabolite composition, crucial for food ...
Yuanyuan Zhang +8 more
doaj +2 more sources