Molecular genetics of type 1 glycogen storage disease

Molecular Genetics and Metabolism

Volumn 73, Issue 2, 2001, Pages 117-125

  Janecke, Andreas R ^a   Mayatepek, Ertan ^b   Utermann, Gerd ^a  

^a UNIVERSITY OF INNSBRUCK   (Austria)

^b UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

Diagnosis; FISH analysis; Glycogen storage disease type 1; Mutation analysis; Mutation distribution; Review; Type 1 non a

Indexed keywords

CARRIER PROTEIN; GLUCOSE 6 PHOSPHATASE; GLUCOSE 6 PHOSPHATE;

AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 11; CHROMOSOME 17; CLINICAL FEATURE; DISEASE SEVERITY; ENZYME SUBUNIT; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; GENETIC ANALYSIS; GLUCOSE HOMEOSTASIS; GLYCOGEN STORAGE DISEASE TYPE 1; HUMAN; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; SHORT SURVEY;

NON-A, NON-B HEPATITIS VIRUS;

EID: 0034976967     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2001.3179     Document Type: Article

References (55)

1. Glycogen storage diseases
2. Defective neutrophil and monocyte functions in glycogen storage disease type Ib: A literature review
3. Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: Results of the European study on glycogen storage disease type I
4. Multifunctional glucose 6-phosphatase: A critical review
5. Evidence for the participation of independent translocases for phosphate and glucose 6-phosphate in the microsomal glucose 6-phosphatase system
6. Glucose 6-phosphatase dependent substrate transport in the glycogen storage disease type-1a mouse
7. Transmembrane topology of glucose 6-phosphatase
8. Transmembrane topology of human glucose 6-phosphate transporter
9. Isolation of the gene for murine glucose 6-phosphatase, the enzyme deficient in glycogen storage disease type 1A
10. Sequence of a putative glucose 6-phosphatase translocase, mutated in glycogen storage disease type Ib
11. Cloning and characterization of cDNAs encoding a candidate glycogen storage disease type 1b protein in rodents
12. Mutations in the glucose 6-phosphatase gene that cause glycogen storage disease type 1a
13. Genetic basis of glycogen storage disease type 1a: Prevalent mutations at the glucose 6-phosphatase locus
14. Mutation analysis in 24 French patients with glycogen storage disease type 1a
15. Glycogen storage disease type 1a in Israel: Biochemical, clinical, and mutational studies
16. Diagnostik der glykogenose typ Ia: DNA-analyse aus leukozyten als alternative zum enzymassay aus einem frischen leberbiopsat
17. Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% Mutation detection rate and 5 novel mutations
18. Glucose 6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type Ia
19. Molecular genetics of type 1 glycogen storage diseases
20. Enzymatic characterization of four new mutations in the glucose-6 phosphatase (G6PC) gene which cause glycogen storage disease type 1a
21. Glucose 6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype
22. Linkage disequilibrium and linkage analysis of the glucose 6-phosphatase gene
23. The gene for glycogen-storage disease type 1b maps to chromosome 11q23
24. Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b
25. Molecular diagnosis of type 1c glycogen storage disease
26. Human variant glucose 6-phosophate transporter is active in microsomal transport
27. A gene on chromosome 11q23 coding for a putative glucose 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic
28. Mutation analysis in glycogen storage disease type 1 non-a
29. Mutations in the glucose 6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c
30. The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a
31. Type-1c glycogen storage disease is not caused by mutations in the glucose 6-phosphate transporter gene
32. Type Ic, a novel glycogenosis. Underlying mechanism
33. Molecular analysis of glycogen storage disease type Ib: Identification of a prevalent mutation among Japanese patients and assignment of a putative glucose 6-phosphatetranslocase gene to chromosome 11
34. Glycogen storage disease type Ib: Structural and mutational analysis of the microsomal glucose 6-phosphate transporter gene
35. Structural requirements for the stability and microsomal transport activity of the human glucose 6-phosphate transporter
36. DNA analysis in Czech and Slovak patients with glycogen storage disease type 1a
37. Mutations in the glucose 6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia
38. Glycogen storage disease type Ia: Four novel mutations (175delGG, R170X, G266V and V338F) identified
39. Identification of three novel mutations (Q54P, W70X and T108I) in the glucose 6-phosphatase gene of patients with glycogen storage disease type Ia
40. A novel mutation in a Brazilian patient with glycogen storage disease type 1a
41. Identification of mutations in the glucose 6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type Ia, including novel mutations K76N, V166A and 540del5
42. Two new mutations in the glucose 6-phosphatase gene cause glycogen storage disease in Hungarian patients
43. Molecular aspects of glycogen storage disease type Ia in Turkish patients: A novel mutation in the glucose 6-phosphatase gene
44. Exon redefinition by a point mutation within exon 5 of the glucose 6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan
45. Mutations in the glucose 6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c
46. Glycogen storage disease type Ia: Recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart
47. A new mutation of the glucose 6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type 1a
48. Genetic analysis of the glucose 6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family
49. Identification of mutations in the gene for glucose 6-phosphatase, the enzyme deficient in glycogen storage disease type 1a
50. Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients
51. Structure and mutation analysis of the glycogen storage disease type 1b gene
52. Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib
53. A novel missense mutation (P191L) in the glucose 6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b
54. Modifier genes convert "simple" Mendelian disorders to complex traits
55. Phenotypes of patients with "simple" mendelian disorders are complex traits: Thresholds, modifiers, and systems dynamics