(Q43819811)

27 November 2017

title

The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase (English)

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27 November 2017

main subject

glycogen storage disease

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Jeng-Jer Shieh

1

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27 November 2017

Mugen Terzioglu

2

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27 November 2017

Hisayuki Hiraiwa

3

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27 November 2017

Julia Marsh

4

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27 November 2017

Chi-Jiunn Pan

5

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27 November 2017

Li-Yuan Chen

6

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27 November 2017

Janice Yang Chou

7

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27 November 2017

language of work or name

English

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publication date

5 December 2001

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Journal of Biological Chemistry

27 November 2017

published in

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27 November 2017

volume

277

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27 November 2017

issue

7

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27 November 2017

page(s)

5047-5053

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The molecular basis of type 1 glycogen storage diseases

27 November 2017

cites work

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https://api.crossref.org/works/10.1074%2FJBC.M110486200

Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a

21 January 2018

1 reference

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Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110486200

Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M110486200

Identification of a novel phosphatase sequence motif

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M110486200

A new model for the membrane topology of glucose-6-phosphatase: the enzyme involved in von Gierke disease

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M110486200

From phosphatases to vanadium peroxidases: a similar architecture of the active site

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M110486200

Identification of PATCHED mutations in medulloblastomas by direct sequencing

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M110486200

Transmembrane topology of glucose-6-phosphatase

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M110486200

Asparagine-linked oligosaccharides are localized to a luminal hydrophilic loop in human glucose-6-phosphatase

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M110486200

Posttranslational quality control: folding, refolding, and degrading proteins.

21 January 2018

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Degradation of CFTR by the ubiquitin-proteasome pathway

21 January 2018

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Multiple proteolytic systems, including the proteasome, contribute to CFTR processing.

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M110486200

ER-associated and proteasomemediated protein degradation: how two topologically restricted events came together

21 January 2018

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Proteasome inhibitors: valuable new tools for cell biologists

21 January 2018

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Inhibition of proteasome activities and subunit-specific amino-terminal threonine modification by lactacystin

21 January 2018

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Lactacystin, proteasome function, and cell fate

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M110486200

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110486200

Structure-function analysis of human glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110486200

Metabolic engineering with recombinant adenoviruses

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110486200

Protein misfolding and degradation in genetic diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110486200

Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis

21 January 2018

1 reference

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21 January 2018

Identifiers

DOI

10.1074/JBC.M110486200

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27 November 2017

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