PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 23285490-26 1993 If the pathogenic variants have not been identified, glycogen branching enzyme (GBE) testing on cultured amniocytes can be performed for prenatal diagnosis. Glycogen 53-61 1,4-alpha-glucan branching enzyme 1 Homo sapiens 80-83 32439898-2 2020 We previously found that glycogen branching enzyme (GBE1) is downstream of the hypoxia-inducible factor-1 (HIF1) signaling pathway in lung adenocarcinoma (LUAD) cells; however, the molecular mechanism underlying HIF1 regulation of GBE1 expression remains unknown. Glycogen 25-33 1,4-alpha-glucan branching enzyme 1 Homo sapiens 52-56 32439898-2 2020 We previously found that glycogen branching enzyme (GBE1) is downstream of the hypoxia-inducible factor-1 (HIF1) signaling pathway in lung adenocarcinoma (LUAD) cells; however, the molecular mechanism underlying HIF1 regulation of GBE1 expression remains unknown. Glycogen 25-33 1,4-alpha-glucan branching enzyme 1 Homo sapiens 231-235 27107456-2 2016 More than 40 different mutations in the glycogen branching enzyme gene (GBE1) have been described. Glycogen 40-48 1,4-alpha-glucan branching enzyme 1 Homo sapiens 72-76 30692986-3 2018 Among the essential genes for bacterial glycogen metabolism, the glgB-encoded branching enzyme GBE plays an essential role in forming alpha-1,6-glycosidic branching points, and determines the unique branching patterns in glycogen. Glycogen 40-48 1,4-alpha-glucan branching enzyme 1 Homo sapiens 95-98 30692986-3 2018 Among the essential genes for bacterial glycogen metabolism, the glgB-encoded branching enzyme GBE plays an essential role in forming alpha-1,6-glycosidic branching points, and determines the unique branching patterns in glycogen. Glycogen 221-229 1,4-alpha-glucan branching enzyme 1 Homo sapiens 95-98 30692986-14 2018 We also attempted to correlate glycogen average chain length (ACL) with GBE types. Glycogen 31-39 1,4-alpha-glucan branching enzyme 1 Homo sapiens 72-75 30692986-16 2018 In sum, our study systematically investigated bacterial GBEs in terms of domain organizations from evolutionary point of view, which provides guidance for further experimental study of GBE N-terminal functions in glycogen structure and bacterial physiology. Glycogen 213-221 1,4-alpha-glucan branching enzyme 1 Homo sapiens 56-59 30345254-2 2018 GSD IV is associated with mutations in GBE1, which encodes the glycogen branching enzyme. Glycogen 63-71 1,4-alpha-glucan branching enzyme 1 Homo sapiens 39-43 28630259-2 2017 The disease is caused by aberrant glycogen branching enzyme (GBE) (GBE1Y329S) yielding less branched, globular, and soluble glycogen, which tends to aggregate. Glycogen 34-42 1,4-alpha-glucan branching enzyme 1 Homo sapiens 61-64 28630259-2 2017 The disease is caused by aberrant glycogen branching enzyme (GBE) (GBE1Y329S) yielding less branched, globular, and soluble glycogen, which tends to aggregate. Glycogen 124-132 1,4-alpha-glucan branching enzyme 1 Homo sapiens 61-64 31221150-2 2019 Our previous study showed that glycogen branching enzyme (GBE1) is downstream of the HIF1 pathway in hypoxia-conditioned lung cancer cells. Glycogen 31-39 1,4-alpha-glucan branching enzyme 1 Homo sapiens 58-62 25489661-7 2016 Genetic analysis of glycogen branching enzyme 1 gene (GBE1) was performed in parents and showed a novel deletion of 1 nucleotide, c.1937delT, affecting the mother and a mutation affecting a consensus splice site, c.691+2T>C, in the father. Glycogen 20-28 1,4-alpha-glucan branching enzyme 1 Homo sapiens 54-58 23266647-8 2013 Since brain glycogen is almost exclusively metabolized in astrocytes, this observation sheds light on the pathophysiology of APBD. Glycogen 12-20 1,4-alpha-glucan branching enzyme 1 Homo sapiens 125-129 25665141-5 2015 We studied 35 typical patients with adult polyglucosan body disease, of whom 16 were heterozygous for the well-known c.986A>C mutation in the glycogen branching enzyme gene (GBE1) but harbored no other known mutation in 16 exons. Glycogen 145-153 1,4-alpha-glucan branching enzyme 1 Homo sapiens 177-181 25544507-2 2015 APBD is a rare autosomal recessive disorder characterized by a gradually progressive involvement of both the central and peripheral nervous systems caused by the deficiency of the glycogen branching enzyme (GBE1). Glycogen 180-188 1,4-alpha-glucan branching enzyme 1 Homo sapiens 207-211 26789422-2 2016 It is caused by mutations in the glycogen branching enzyme gene (GBE1). Glycogen 33-41 1,4-alpha-glucan branching enzyme 1 Homo sapiens 65-69 26199317-1 2015 Glycogen branching enzyme 1 (GBE1) plays an essential role in glycogen biosynthesis by generating alpha-1,6-glucosidic branches from alpha-1,4-linked glucose chains, to increase solubility of the glycogen polymer. Glycogen 62-70 1,4-alpha-glucan branching enzyme 1 Homo sapiens 0-27 26199317-1 2015 Glycogen branching enzyme 1 (GBE1) plays an essential role in glycogen biosynthesis by generating alpha-1,6-glucosidic branches from alpha-1,4-linked glucose chains, to increase solubility of the glycogen polymer. Glycogen 62-70 1,4-alpha-glucan branching enzyme 1 Homo sapiens 29-33 26199317-1 2015 Glycogen branching enzyme 1 (GBE1) plays an essential role in glycogen biosynthesis by generating alpha-1,6-glucosidic branches from alpha-1,4-linked glucose chains, to increase solubility of the glycogen polymer. Glycogen 196-204 1,4-alpha-glucan branching enzyme 1 Homo sapiens 0-27 26199317-1 2015 Glycogen branching enzyme 1 (GBE1) plays an essential role in glycogen biosynthesis by generating alpha-1,6-glucosidic branches from alpha-1,4-linked glucose chains, to increase solubility of the glycogen polymer. Glycogen 196-204 1,4-alpha-glucan branching enzyme 1 Homo sapiens 29-33 22899091-4 2013 METHODS: A massively parallel sequencing test was developed for simultaneous sequencing of 16 genes known to cause muscle and liver forms of glycogen storage diseases: GYS2, GYS1, G6PC, SLC37A4, GAA, AGL, GBE1, PYGM, PYGL, PFKM, PHKA2, PHKB, PHKG2, PHKA1, PGAM2, and PGM1. Glycogen 141-149 1,4-alpha-glucan branching enzyme 1 Homo sapiens 205-209 17994551-2 2008 A common missense mutation in the glycogen branching enzyme (GBE1) gene has been identified in Ashkenazi patients with APBD. Glycogen 34-42 1,4-alpha-glucan branching enzyme 1 Homo sapiens 61-65 22943850-1 2012 Mutations of the glycogen branching enzyme gene, GBE1, result in glycogen storage disease (GSD) type IV, an autosomal recessive disorder having multiple clinical forms. Glycogen 17-25 1,4-alpha-glucan branching enzyme 1 Homo sapiens 49-53 22305237-0 2012 Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review. Glycogen 58-66 1,4-alpha-glucan branching enzyme 1 Homo sapiens 96-100 20058079-1 2010 Glycogen storage disease type IV (GSD IV; Andersen disease) is caused by a deficiency of glycogen branching enzyme (GBE), leading to excessive deposition of structurally abnormal, amylopectin-like glycogen in affected tissues. Glycogen 89-97 1,4-alpha-glucan branching enzyme 1 Homo sapiens 116-119 20300197-8 2010 Importantly, we found that hypoxia also upregulates the expression of UTP:glucose-1-phosphate urydylyltransferase (UGP2) and 1,4-alpha glucan branching enzyme (GBE1), two enzymes involved in the biosynthesis of glycogen. Glycogen 211-219 1,4-alpha-glucan branching enzyme 1 Homo sapiens 160-164 19357989-1 2009 Glycogen storage disease type IV (GSD IV, or Andersen disease) is an autosomal recessive disorder due to the deficiency of 1,4-alpha-glucan branching enzyme (or glycogen branching enzyme, GBE1), resulting in an accumulation of amylopectin-like polysaccharide in muscle, liver, heart and central and peripheral nervous system. Glycogen 0-8 1,4-alpha-glucan branching enzyme 1 Homo sapiens 188-192 20479904-1 2009 Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease caused by a deficient glycogen branching enzyme (GBE), encoded by the GBE1 gene, resulting in the accumulation of abnormal glycogen deposits in the liver and other tissues. Glycogen 98-106 1,4-alpha-glucan branching enzyme 1 Homo sapiens 125-128 20479904-1 2009 Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease caused by a deficient glycogen branching enzyme (GBE), encoded by the GBE1 gene, resulting in the accumulation of abnormal glycogen deposits in the liver and other tissues. Glycogen 98-106 1,4-alpha-glucan branching enzyme 1 Homo sapiens 146-150 15520786-1 2004 The fatal neonatal form of type IV glycogen storage disease (GSD IV) was diagnosed on light and electron microscopy and by analysis of GBE1 , the gene encoding glycogen branching enzyme. Glycogen 35-43 1,4-alpha-glucan branching enzyme 1 Homo sapiens 135-139 16528737-2 2006 A deficiency in GBE activity results in the accumulation of glycogen with fewer branching points and long, unbranched outer chains. Glycogen 60-68 1,4-alpha-glucan branching enzyme 1 Homo sapiens 16-19 12874416-1 2003 Autopsy of a 50-year-old woman with adult polyglucosan body disease and missense mutations (Arg515His, Arg524Gln) in the glycogen branching enzyme gene (GBE) revealed accumulation of polyglucosan bodies in the heart, brain, and nerve. Glycogen 121-129 1,4-alpha-glucan branching enzyme 1 Homo sapiens 153-156 12913206-3 2003 Glycogen branching enzyme (GBE1) activity in the muscle was markedly reduced. Glycogen 0-8 1,4-alpha-glucan branching enzyme 1 Homo sapiens 27-31 8613547-1 1996 Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease resulting from deficient glycogen-branching enzyme (GBE) activity. Glycogen 101-109 1,4-alpha-glucan branching enzyme 1 Homo sapiens 128-131 10868977-11 2000 Possible candidate genes in this region include GBE1 and ACOX2, which encode enzymes involved in glycogen and fatty acid metabolism, respectively. Glycogen 97-105 1,4-alpha-glucan branching enzyme 1 Homo sapiens 48-52 35155189-1 2021 Glycogen branching enzyme (GBE1) is a critical gene that participates in regulating glycogen metabolism. Glycogen 0-8 1,4-alpha-glucan branching enzyme 1 Homo sapiens 27-31 35155189-1 2021 Glycogen branching enzyme (GBE1) is a critical gene that participates in regulating glycogen metabolism. Glycogen 84-92 1,4-alpha-glucan branching enzyme 1 Homo sapiens 27-31