Glycine Substitution Mutations Cause Intracellular Accumulation of Collagen XVII and Affect Its Post-Translational Modifications-Reference-Cited by-同舟云学术

Glycine Substitution Mutations Cause Intracellular Accumulation of Collagen XVII and Affect Its Post-Translational Modifications

Published:2009-09 Issue:9 Volume:129 Page:2302-2306
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Huilaja Laura,Hurskainen Tiina,Autio-Harmainen Helena,Sormunen Raija,Tu Hongmin,Hofmann Silke C.,Pihlajaniemi Taina,Bruckner-Tuderman Leena,Tasanen Kaisa

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference18 articles.

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3. A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa;Chavanas;J Invest Dermatol,1997

4. Novel homozygous and compound heterozygous COL17A1 mutations associated with junctional epidermolysis bullosa;Floeth;J Invest Dermatol,1998

5. Collagenous transmembrane proteins: recent insights into biology and pathology;Franzke;J Biol Chem,2005

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1. Junctional epidermolysis bullosa: genotype-phenotype correlations;Vestnik dermatologii i venerologii;2023-01-27

2. Skin Blistering and Collagens: From Bench to Therapies;The Collagen Superfamily and Collagenopathies;2021

3. Amino acid substitution in the C-terminal domain of collagen XVII reduces laminin-332 interaction causing mild skin fragility with atrophic scarring;Matrix Biology;2019-07

4. Amino acid duplication in the coiled-coil structure of collagen XVII alters its maturation and trimerization causing mild junctional epidermolysis bullosa;Human Molecular Genetics;2016-11-28

5. Mutations in Collagen, Type XVII, Alpha 1 (COL17A1) Cause Epithelial Recurrent Erosion Dystrophy (ERED);Human Mutation;2015-03-31