Endoplasmic Reticulum Stress and Apoptosis Contribute to the Pathogenesis of Dominantly Inherited Isolated GH Deficiency Due to GH1 Gene Splice Site Mutations

Author:

Ariyasu Daisuke1,Yoshida Hiderou2,Yamada Makoto3,Hasegawa Yukihiro1

Affiliation:

1. Department of Endocrinology and Metabolism (D.A., Y.H.), Tokyo Metropolitan Children's Medical Center, Tokyo 183–8561, Japan

2. Department of Biochemistry and Molecular Biology (H.Y.), Graduate School of Life Science, University of Hyogo, Hyogo 678–1297, Japan

3. Department of Pharmacy (M.Y.), Tokyo University of Science, Tokyo 162–0825, Japan

Publisher

The Endocrine Society

Subject

Endocrinology

Reference34 articles.

1. Screening for growth hormone (GH) gene splice-site mutations in sporadic cases with severe isolated GH deficiency using ectopic transcript analysis;Binder;J Clin Endocrinol Metab,1995

2. Familial growth hormone deficiency: a model of dominant and recessive mutations affecting a monomeric protein;Cogan;J Clin Endocrinol Metab,1994

3. Isolated growth hormone (GH) deficiency type IA associated with a 45-kilobase gene deletion within the human GH gene cluster;Akinci;J Clin Endocrinol Metab,1992

4. The crystal structure of affinity-matured human growth hormone at 2 A resolution;Ultsch;J Mol Biol,1994

5. Misfolded growth hormone causes fragmentation of the Golgi apparatus and disrupts endoplasmic reticulum-to-Golgi traffic;Graves;J Cell Sci,2001

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