(Q37183970)

English

Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions

scientific article published on 19 March 2009

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions (English)

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

1 reference

based on heuristic

inferred from title

glycogen storage disease

1 reference

based on heuristic

inferred from title

1

object named as

Alan Cheng

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Alan R. Saltiel

object named as

Alan R Saltiel

5

0 references

author name string

Mei Zhang

2

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Minoru Okubo

3

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Kaoru Omichi

4

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

publication date

19 March 2009

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Human Molecular Genetics

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

18

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

11

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

2045-2052

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Diversity of degradation signals in the ubiquitin-proteasome system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678930

6 September 2017

Donor substrate specificity of 4-alpha-glucanotransferase of porcine liver glycogen debranching enzyme and complementary action to glycogen phosphorylase on debranching

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678930

6 September 2017

Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678930

6 September 2017

A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678930

6 September 2017

Exploring the extremes of sequence/structure space with ensemble fold recognition in the program Phyre

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678930

6 September 2017

Active site mapping of amylo-alpha-1,6-glucosidase in porcine liver glycogen debranching enzyme using fluorogenic 6-O-alpha-glucosyl-maltooligosaccharides

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678930

6 September 2017

Role of ubiquitin- and Ubl-binding proteins in cell signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678930

6 September 2017

CAP interacts with cytoskeletal proteins and regulates adhesion-mediated ERK activation and motility

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678930

6 September 2017

Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678930

6 September 2017

Fluorogenic substrates of glycogen debranching enzyme for assaying debranching activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678930

6 September 2017

Molecular characterization of glycogen storage disease type III.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678930

6 September 2017

A unique carbohydrate binding domain targets the lafora disease phosphatase to glycogen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678930

6 September 2017

Identification of the catalytic residues of bifunctional glycogen debranching enzyme

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678930

6 September 2017

Aggresomes, inclusion bodies and protein aggregation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678930

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678930

6 September 2017

Reassessment of the catalytic mechanism of glycogen debranching enzyme

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678930

6 September 2017

Amylo-1,6-glycosidase/4-α-glucanotransferase: use of reversible substrate model inhibitors to study the binding and active sites of rabbit muscle debranching enzyme

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678930

6 September 2017

Debranching enzyme from rabbit skeletal muscle. Purification, properties and physiological role

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2678930

26 June 2018

The Subgroups of Type III Glycogenosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19299494

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient

1 reference

https://pubmed.ncbi.nlm.nih.gov/19299494

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan

1 reference

https://pubmed.ncbi.nlm.nih.gov/19299494

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/DDP128

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

ResearchGate publication ID

0 references

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