Characterization of the equine glycogen debranching enzyme gene (AGL): Genomic and cDNA structure, localization, polymorphism and expression

Bérénice Herszberg; Xavier Mata; Elena Giulotto; Pauline Decaunes; Francesca M. Piras; Bhanu P. Chowdhary; Stéphane Chaffaux; Gérard Guérin

doi:10.1016/j.gene.2007.07.034

Characterization of the equine glycogen debranching enzyme gene (AGL): Genomic and cDNA structure, localization, polymorphism and expression

Gene ◽

10.1016/j.gene.2007.07.034 ◽

2007 ◽

Vol 404 (1-2) ◽

pp. 1-9 ◽

Cited By ~ 4

Author(s):

Bérénice Herszberg ◽

Xavier Mata ◽

Elena Giulotto ◽

Pauline Decaunes ◽

Francesca M. Piras ◽

...

Keyword(s):

Debranching Enzyme ◽

Enzyme Gene ◽

Glycogen Debranching Enzyme

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Cloning and characterization of the glycogen branching enzyme gene existing in tandem with the glycogen debranching enzyme from Pectobacterium chrysanthemi PY35

Biochemical and Biophysical Research Communications ◽

10.1016/s0006-291x(02)02763-8 ◽

2003 ◽

Vol 300 (1) ◽

pp. 93-101 ◽

Cited By ~ 6

Author(s):

Woo Jin Lim ◽

Sang Ryeol Park ◽

Min Keun Kim ◽

Chang Long An ◽

Ho Jong Yun ◽

...

Keyword(s):

Branching Enzyme ◽

Debranching Enzyme ◽

Enzyme Gene ◽

Pectobacterium Chrysanthemi ◽

Glycogen Debranching Enzyme ◽

Glycogen Branching Enzyme

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Human Glycogen Debranching Enzyme Gene (AGL): Complete Structural Organization and Characterization of the 5′ Flanking Region

Genomics ◽

10.1006/geno.1996.0611 ◽

1996 ◽

Vol 38 (2) ◽

pp. 155-165 ◽

Cited By ~ 55

Author(s):

Yong Bao ◽

Thomas L. Dawson, Jr. ◽

Yuan-Tsong Chen

Keyword(s):

Structural Organization ◽

Debranching Enzyme ◽

Enzyme Gene ◽

Glycogen Debranching Enzyme ◽

Flanking Region

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

Human Genetics ◽

10.1007/s004390051017 ◽

2000 ◽

Vol 106 (1) ◽

pp. 108-115 ◽

Cited By ~ 25

Author(s):

M. Okubo ◽

A. Horinishi ◽

M. Takeuchi ◽

Y. Suzuki ◽

N. Sakura ◽

...

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Debranching Enzyme ◽

Enzyme Gene ◽

Type Iiia ◽

Glycogen Debranching Enzyme

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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

Human Mutation ◽

10.1002/(sici)1098-1004(1997)9:1<37::aid-humu6>3.0.co;2-m ◽

1997 ◽

Vol 9 (1) ◽

pp. 37-40 ◽

Cited By ~ 27

Author(s):

Jianjun Shen ◽

Yong Bao ◽

Yuan-Tsong Chen

Keyword(s):

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Coding Region ◽

Severe Phenotype ◽

Debranching Enzyme ◽

Enzyme Gene ◽

Single Base ◽

Glycogen Debranching Enzyme

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A Novel Donor Splice Site Mutation in the Glycogen Debranching Enzyme Gene Is Associated with Glycogen Storage Disease Type III

Biochemical and Biophysical Research Communications ◽

10.1006/bbrc.1996.1235 ◽

1996 ◽

Vol 225 (2) ◽

pp. 695 ◽

Cited By ~ 3

Author(s):

Minoru Okubo ◽

Yoshiko Aoyama ◽

Toshio Murase

Keyword(s):

Splice Site ◽

Storage Disease ◽

Splice Site Mutation ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Site Mutation ◽

Debranching Enzyme ◽

Enzyme Gene ◽

Glycogen Debranching Enzyme

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Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III.

Journal of Medical Genetics ◽

10.1136/jmg.34.1.34 ◽

1997 ◽

Vol 34 (1) ◽

pp. 34-38 ◽

Cited By ~ 14

Author(s):

J Shen ◽

H M Liu ◽

Y Bao ◽

Y T Chen

Keyword(s):

Linkage Analysis ◽

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Polymorphic Markers ◽

Debranching Enzyme ◽

Enzyme Gene ◽

Glycogen Debranching Enzyme

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

Human Genetics ◽

10.1007/s004399900194 ◽

2000 ◽

Vol 106 (1) ◽

pp. 108-115

Author(s):

M. Okubo ◽

A. Horinishi ◽

M. Takeuchi ◽

Y. Suzuki ◽

N. Sakura ◽

...

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Debranching Enzyme ◽

Enzyme Gene ◽

Type Iiia ◽

Glycogen Debranching Enzyme

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A Novel Donor Splice Site Mutation in the Glycogen Debranching Enzyme Gene Is Associated with Glycogen Storage Disease Type III

Biochemical and Biophysical Research Communications ◽

10.1006/bbrc.1996.1055 ◽

1996 ◽

Vol 224 (2) ◽

pp. 493-499 ◽

Cited By ~ 22

Author(s):

Minoru Okubo ◽

Yoshiko Aoyama ◽

Toshio Murase

Keyword(s):

Splice Site ◽

Storage Disease ◽

Splice Site Mutation ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Site Mutation ◽

Debranching Enzyme ◽

Enzyme Gene ◽

Glycogen Debranching Enzyme

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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.

Journal of Clinical Investigation ◽

10.1172/jci118799 ◽

1996 ◽

Vol 98 (2) ◽

pp. 352-357 ◽

Cited By ~ 87

Author(s):

J Shen ◽

Y Bao ◽

H M Liu ◽

P Lee ◽

J V Leonard ◽

...

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Differentially Expressed ◽

Debranching Enzyme ◽

Enzyme Gene ◽

Type Iii ◽

Glycogen Debranching Enzyme

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

Human Mutation ◽

10.1002/(sici)1098-1004(199912)14:6<542::aid-humu15>3.0.co;2-0 ◽

1999 ◽

Vol 14 (6) ◽

pp. 542-543 ◽

Cited By ~ 12

Author(s):

Minoru Okubo ◽

Fumio Kanda ◽

Asako Horinishi ◽

Keiichi Takahashi ◽

Shiho Okuda ◽

...

Keyword(s):

Missense Mutation ◽

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Debranching Enzyme ◽

Enzyme Gene ◽

Glycogen Debranching Enzyme ◽

Homozygous Patient

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