Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III

Ding, Jindong; Barsy, Thierry de; Brown, Barbara I.; Coleman, Rosalind A.; Chen, Yuan Tsong

doi:10.1016/s0022-3476(05)81652-x

Cited by 76 publications

(29 citation statements)

References 9 publications

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“…4 In rare cases, selective loss of only one of the two GDE activities, glucosidase or transferase, results in GSD IIIc or GSD IIId, respectively. 5,6 Although GSD IIIc and IIId can be distinguished from other subtypes of GSD III by complicated laboratory testing, these patients are clinically indistinguishable from GSD IIIa.…”

Section: Abstract: Cori Disease Forbes Disease Gsd Type III Limitmentioning

confidence: 99%

“…41 This is in agreement with previous results of Western blot analysis in GSD III patients, which found no detectable GDE protein. 5 Although we have classified the mutations in Table, Supplemental Digital Content 1, http://links.lww.com/GIM/A102 according to the expected effect on mRNA processing and amino acid sequence, we appreciate that predictions for most of these mutations have been made using computer models available to date and have not been tested in vitro. In addition to these predicted effects, exonic splice enhancers (ESEs) 42,43 seem to be common, and alterations to these elements may also affect splicing.…”

Section: Predicted Effects Of Mutations In the Agl Genementioning

confidence: 99%

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Molecular analysis of the AGL gene: Identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III

Goldstein¹,

Austin²,

Boyette³

et al. 2010

Genetics in Medicine

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Section: Abstract: Cori Disease Forbes Disease Gsd Type III Limitmentioning

confidence: 99%

Section: Predicted Effects Of Mutations In the Agl Genementioning

confidence: 99%

Molecular analysis of the AGL gene: Identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III

Goldstein¹,

Austin²,

Boyette³

et al. 2010

Genetics in Medicine

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“…Then the first catalytic center of GDE, 1,4-glucan-4-D-glucosyltransferase, transports the three outer glucose molecules of LD to another chain. The second catalytic center, amylo-1,6-glucosidase, then releases the last glucose molecule (Ding et al 1990). GSD III can be diagnosed biochemically by measuring GDE activity in skin fibroblasts and/or leucocytes.…”

Section: Introductionmentioning

confidence: 99%

Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene

et al. 2012

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“…However sometimes GDE is only deficient in liver and activity in muscle is normal (type IIIb). In rare cases, selective loss of only one of the two DE activities (glucosidase [ (4,5).…”

Section: Introductionmentioning

confidence: 99%

Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.

Shen¹,

Bao²,

Liu³

et al. 1996

J. Clin. Invest.

126

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Glycogen storage disease type III (GSD-III), an autosomal recessive disease, is caused by deficient glycogen debranching enzyme (GDE) activity. Most GSD-III patients are GDE deficient in both liver and muscle (type IIIa), and some GSD-III patients have GDE absent in liver but retained in muscle (type IIIb). The molecular basis for this enzymatic variability is largely unknown. In the present study, the analysis of the GDE gene in three GSD-IIIb patients by single-strand conformation polymorphism (SSCP), DNA sequencing, restriction analysis, and family studies, revealed each of them as being a compound heterozygote for two different mutations. The first mutant alleles in all three patients involved mutations in exon 3 at amino acid codon 6 of the GDE protein. Two had an AG deletion at nucleotides 17 and 18 of the GDE cDNA (17delAG) which resulted in change of subsequent amino acid sequence and a truncated protein (25X); the other had a C to T transition at nucleotide 16 of the cDNA which changed a Glutamine codon to a stop codon (Q6X). The 17delAG mutation was also found in 8 of the 10 additional GSD-IIIb patients. The Q6X mutation was found in one of the remaining two GSD-IIIb patients. These two mutations were not found in any of the 31 GSD-IIIa patients, 2 GSD-IIId patients, nor 28 unrelated normal controls. The second mutant alleles in each of the three GSD-IIIb patients were R864X, R1228X, and W680X. The R864X and R1228X were not unique for GSD-IIIb as they were also found in GSD-IIIa patients (frequency of 10.3% and 5.2% in Caucasian patients, respectively). Our data demonstrated that both IIIa and IIIb had mutations in the same GDE gene and established for the first time the molecular basis of GSD-III that differentially expressed in liver and muscle. The striking and specific association of exon 3 mutations with GSD-IIIb may provide insight into mechanisms controlling tissue-specific expression of the GDE gene. The identification of exon 3 mutations has clinical significance as well because it distinguished GSD-IIIb from IIIa hence permitting diagnosis from a blood sample rather than a more invasive muscle biopsy.

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Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III

Cited by 76 publications

References 9 publications

Molecular analysis of the AGL gene: Identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III

Molecular analysis of the AGL gene: Identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III

Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene

Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.

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