Article
Aminoglycosides restore full-length type VII collagen by overcoming premature termination codons: therapeutic implications for dystrophic epidermolysis bullosa.
Molecular therapy : the journal of the American Society of Gene Therapy - 1 Oct 2014
Cogan Jon, Weinstein Jacqueline, Wang Xinyi, Hou Yingping, Martin Sabrina, South Andrew P, Woodley David T, Chen Mei
Abstract excerpt
Patients with recessive dystrophic epidermolysis bullosa (RDEB) have severe, incurable skin fragility, blistering, and multiple skin wounds due to mutations in the gene encoding type VII collagen (C7), the major component of anchoring fibrils mediating epidermal-dermal adherence. Nearly 10-25% of RDEB patients carry nonsense mutations leading to premature stop codons (PTCs) that result in truncated C7. In this...
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