Recombinant Human 1,4-alpha-glucan-branching enzyme (GBE1)

1. Case Report: novel heterozygous variant (c.760A>G; p.Thr254Ala) in exon 6 of the GBE1 gene resulting in glycogen storage disease type IV. PMID: 27107456
2. The crystal structure of GBE1 in complex with oligosaccharides was determined, the structural and molecular bases of Adult Polyglucosan Body Disease-linked missense mutations was investigated. PMID: 26199317
3. The presence of polyglucosan bodies in intramuscular nerve twigs by itself and is not an indication of APBD mutation. PMID: 26670585
4. GBE1 mutation is found in manifesting heterozygous patients with adult polyglucosan body disease PMID: 25665141
5. Case Reports: novel missense/deletion mutations in GBE1 in glycogen storage disease type IV. PMID: 20058079
6. GBE1 mutations can cause an early adult-onset relapsing-remitting form of polyglucosan body disease distinct from adult polyglucosan body disease in several ways, including younger age at onset. PMID: 24248152
7. Compound heterozygous mutations in GBE1 were identified as the cause of lethal multiple pterygium syndrome in a family. PMID: 23218673
8. this is the first epidemiologic study of the mutation frequency of the adult polyglucosan body disease -associated GBE1 mutation c.1076A>C in a large Ashkenazi Jewish cohort. PMID: 22943850
9. APBD with GBE deficiency is a clinically homogenous disorder that should be suspected in patients with adult onset leukodystrophy or spastic paraplegia with early onset of urinary symptoms and spinal atrophy. PMID: 23034915
10. A review of the literature for glycogen storage disease type IV patients with characterized molecular defects and deficient enzyme activity reveals most GBE1 mutations to be missense mutations clustering in the catalytic enzyme domain. PMID: 22305237
11. Case Report: report an as yet undefined and different phenotype of glycogen storage disease with diminished branching enzyme activity associated with multisystemic involvement. PMID: 18392749
12. GYS1 regulation by HIF plays a central role in the hypoxic accumulation of glycogen, and hypoxia also upregulates the expression of UTP:glucose-1-phosphate urydylyltransferase (UGP2) and 1,4-alpha glucan branching enzyme (GBE1) PMID: 20300197
13. Nine novel GBE1 mutations were identified, including nonsense, missense, deletion, insertion, and splice-junction mutations. Implications for protein structure and interactions were modeled. PMID: 15452297
14. Mutations in the GBE1 gene, located on chromosome 3, have been identified in phenotypes of glycogenosis 4. PMID: 17915577
15. brain white matter degeneration in APBD may result from tissue damage involving axons and myelin in GBE missense mutation PMID: 17994551
16. A c.1558delC frame shift mutation in exon 12 and a c.1999C>T mutation in exon 14 of the GBE1 gene were observed in a neonate with glycogen storage disease type IV. PMID: 18289670

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HGNC: 4180

OMIM: 232500

KEGG: hsa:2632

STRING: 9606.ENSP00000410833

UniGene: Hs.436062