Results 1 to 10 of about 1,590 (147)

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 Genetics
IntroductionAdult 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.
Hong-Ping Yu, Zi-Yan Xu
exaly   +6 more sources

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 Reports
Background: 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
Anas Bernieh, Loren Pena, Jennifer Kasten   +2 more
exaly   +5 more sources

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 Reports
Glycogen 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, H. Orhan Akman, Erin Chown, Deberah Goldman, Jeff Levenson, Qing Lu, Lindsay T. Michalovicz Gill, Matthew Morgan, Jennifer L. Orthmann‐Murphy, Natacha T. Pires, Rebecca Reef, Harriet Saxe, Moriel Singer‐Berk, Samantha Baxter   +13 more
doaj   +3 more sources

Unveiling GBE1 as a hypoxia-related prognostic gene with significant impact on immune cell infiltration in HER2-enriched breast cancer [PDF]

Discover Oncology
Hypoxia, 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, Mohammad Darzi, Mehrdad Yasaei   +2 more
doaj   +3 more sources

Identification of copper metabolism-related markers in Parkinson’s disease [PDF]

Annals of Medicine
Objectives 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, Guifeng Zhang, Bo Lou, Yi Sun, Xiaodong Jia, Meidan Wang, Jing Zhou, Zhangyong Xia   +7 more
doaj   +3 more sources

WTAP/IGF2BP3-mediated GBE1 expression accelerates the proliferation and enhances stemness in pancreatic cancer cells via upregulating c-Myc [PDF]

Cellular and Molecular Biology Letters
Background 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.
Qiliang Lu, Weiwei Jin, Xiangmin Tong
exaly   +3 more sources

GBE1 Is an Independent Prognostic Marker and Associated With CD163+ Tumor-Associated Macrophage Infiltration in Lung Adenocarcinoma

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 ...
Yicheng Liang, Yushun Gao, Zixu Liu
exaly   +3 more sources

Lung adenocarcinoma-intrinsic GBE1 signaling inhibits anti-tumor immunity

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.
Kai Zhang, Zhirui Fan
exaly   +3 more sources

Metabolic Regulation of Immune Responses: Molecular Mechanisms, Diseases, and Therapeutic Targets. [PDF]

MedComm (2020)
FBP1 loss drives immune evasion and therapy resistance by enhancing glycolysis, STAT3 activation, and PD‐L1 expression, leading to T cell exhaustion and NK cell inhibition. FBP1 restoration, via LNP‐mRNA or epigenetic modulation, reverses these immunosuppressive effects, reactivates cytotoxic T cells, promotes M1 macrophage polarization, and enhances ...
Li C, Liu Z, Kong D, Li Z, Yan Y, Dong Y, Zhu L, Cao J, Fan Z, Sethi G, Li L.   +10 more
europepmc   +2 more sources

Infant Born With Autosomal Recessive Glycogen Storage Disease Type IV due to Complete Maternal Isodisomy of Chromosome 3. [PDF]

Case Rep Genet
Uniparental 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, Ernst A, Christensen PS, Björnsdóttir ED, Mark LR, Stefansen AV, Højland AT.   +6 more
europepmc   +2 more sources