Citations for
1AGL, GSD3
Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions.
Cheng A, Zhang M, Okubo M, Omichi K, Saltiel AR.
Hum Mol Genet 18(11):2045-52. Epub 2009 Mar 19. 2009
2AGL, GSD3
Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.
Aoyama Y, Ozer I, Demirkol M, Ebara T, Murase T, Podskarbi T, Shin YS, Gokcay G, Okubo M.
J Hum Genet 54(11):681-6. Epub 2009 Oct 16.PMID: 19834502 2009
3AGL, GSD3
Clinicopathological analysis of the homozygous p.W1327X AGL mutation in glycogen storage disease type 3.
Schoser B, Gläser D, Müller-Höcker J.
Am J Med Genet A 146A(22):2911-5. 2008
4AGL, GSD3
Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey.
Endo Y, Horinishi A, Vorgerd M, Aoyama Y, Ebara T, Murase T, Odawara M, Podskarbi T, Shin YS, Okubo M.
J Hum Genet 51(11):958-63. Epub 2006 Sep 19. 2006
5AGL, GSD3
Glycogen debranching enzyme association with beta-subunit regulates AMP-activated protein kinase activity.
Sakoda H, Fujishiro M, Fujio J, Shojima N, Ogihara T, Kushiyama A, Fukushima Y, Anai M, Ono H, Kikuchi M, Horike N, Viana AY, Uchijima Y, Kurihara H, Asano T.
Am J Physiol Endocrinol Metab 289(3):E474-81. Epub 2005 May 10. 2005
6AGL, GSD3
Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III.
Horinishi A, Okubo M, Tang NL, Hui J, To KF, Mabuchi T, Okada T, Mabuchi H, Murase T.
J Hum Genet 47(2):55-9. 2002
7AGL, GSD3
Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan.
Okubo M, Horinishi A, Takeuchi M, Suzuki Y, Sakura N, Hasegawa Y, Igarashi T, Goto K, Tahara H, Uchimoto S, Omichi K, Kanno H, Hayasaka K, Murase T.
Hum Genet 106:108-115 2000
8AGL, GSD3
Compound heterozygous patient with glycogen storage disease type III: identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin.
Okubo M, Horinishi A, Suzuki Y, Murase T, Hayasaka K.
Am J Med Genet 93(3):211-4. 2000
9GSD3, CDC42, MSUD2, FCER1A, GNAI3, GUCA2A, ITPKB, MATN1, MCL1, NGF, PRDX1, PTPN7, S100A10
A comprehensive view of human chromosome 1.
White PS, Sulman EP, Porter CJ, Matise TC.
Genome Res 9(10):978-88 1999
10GSD3
A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb.
Okubo M, Horinishi A, Nakamura N, Aoyama Y, Hashimoto M, Endo Y, Murase T.
Hum Genet 102(1):1-5. 1998
11GSD3
Two new mutations in the 3' coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient.
Parvari R, et al.
J Inherit Metab Dis 21 : 141-148. 1998
12GSD3
A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa.
Shen J, et al.
Hum Mutat 9 : 37-40. 1997
13GSD3
Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III.
Shen J, et al.
J Med Genet 34 : 34-38. 1997
14AGL, GSD3
A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients.
Parvari R, Moses S, Shen J, Hershkovitz E, Lerner A, Chen YT.
Eur J Hum Genet 5(5):266-70. 1997
15GSD3
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.
Shen J, et al.
J Clin Invest 98 : 352-357. 1996
16GSD3
Assignment of the human glycogen debrancher gene to chromosome 1p21.
Yang-Feng TL, et al.
Genomics 13 : 931-934. 1992
17GSD3
Glycogen storage disease in Israel. A clinical, biochemical and genetic study.
Levin S, et al.
Israel J Med Sci 3 : 397-410. 1967