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 ◽

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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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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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 ◽

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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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 ◽

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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Identification of a 5′ splice junction mutation in the debranching enzyme gene in a Japanese patient with glycogen storage disease type IIIa

Journal of Inherited Metabolic Disease ◽

10.1023/a:1005632818722 ◽

2000 ◽

Vol 23 (5) ◽

pp. 527-528 ◽

Author(s):

S. Uotani ◽

H. Yamasaki ◽

H. Takino ◽

E. Kawasaki ◽

H. Matsuo ◽

...

Keyword(s):

Glycogen Storage Disease ◽

Japanese Patient ◽

Storage Disease ◽

Splice Junction ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Debranching Enzyme ◽

Enzyme Gene ◽

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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 ◽

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

The Journal of Pediatrics ◽

10.1016/s0022-3476(05)81652-x ◽

1990 ◽

Vol 116 (1) ◽

pp. 95-100 ◽

Author(s):

Jia-Huan Ding ◽

T. de Barsy ◽

Barbara I. Brown ◽

Rosalind A. Coleman ◽

Yuan-Tsong Chen

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Debranching Enzyme ◽

Type Iii ◽

Glycogen Debranching Enzyme

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Two new mutations in the 3′ coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient

Journal of Inherited Metabolic Disease ◽

10.1023/a:1005343625756 ◽

1998 ◽

Vol 21 (2) ◽

pp. 141-148 ◽

Author(s):

R. Parvari ◽

J. Shen ◽

E. Hershkovitz ◽

Y. T. Chen ◽

S. W. Moses

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Ashkenazi Jewish ◽

Coding Region ◽

Debranching Enzyme ◽

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 ◽

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 ◽

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

Human Molecular Genetics ◽

10.1093/hmg/ddp128 ◽

2009 ◽

Vol 18 (11) ◽

pp. 2045-2052 ◽

Author(s):

Alan Cheng ◽

Mei Zhang ◽

Minoru Okubo ◽

Kaoru Omichi ◽

Alan R. Saltiel

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Cellular Functions ◽

Debranching Enzyme ◽

Type Iii ◽

Glycogen Debranching Enzyme

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