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Case Report: novel heterozygous variant (c.760A>G; p.Thr254Ala) in exon 6 of the GBE1 gene resulting in glycogen (show GYS1 Proteins) storage disease type IV.
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.
The presence of polyglucosan bodies in intramuscular nerve twigs by itself and is not an indication of APBD mutation.
GBE1 mutation is found in manifesting heterozygous patients with adult polyglucosan body disease
Case Reports: novel missense/deletion mutations in GBE1 in glycogen (show GYS1 Proteins) storage disease type IV.
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.
Compound heterozygous mutations in GBE1 were identified as the cause of lethal multiple pterygium syndrome in a family.
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.
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.
A review of the literature for glycogen (show GYS1 Proteins) 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.
results reveal that early molecular events associated with Gbe1 deficiency contribute to abnormal cardiac development and fetal hydrops in the fetal form of glycogen (show GYS1 Proteins) storage disease type IV
GYS1 (show GYS1 Proteins) regulation by HIF plays a central role in the hypoxic accumulation of glycogen (show GYS1 Proteins), and hypoxia also upregulates the expression of UTP:glucose-1-phosphate urydylyltransferase (UGP2 (show UGP2 Proteins)) and 1,4-alpha glucan branching enzyme (GBE1)
The protein encoded by this gene is a glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. Branching of the chains is essential to increase the solubility of the glycogen molecule and, consequently, in reducing the osmotic pressure within cells. Highest level of this enzyme are found in liver and muscle. Mutations in this gene are associated with glycogen storage disease IV (also known as Andersen's disease).
glycogen branching enzyme
, 1,4-alpha-glucan-branching enzyme
, amylo-(1,4 to 1,6) transglucosidase
, amylo-(1,4 to 1,6) transglycosylase
, brancher enzyme
, glycogen-branching enzyme
, glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV)