Broken bricks and cracked mortar - epidermal diseases resulting from genetic abnormalities

TY - JOUR

T1 - Broken bricks and cracked mortar - epidermal diseases resulting from genetic abnormalities

AU - Lane, E.Birgitte

AU - McLean, W.H.Irwin

N1 - Copyright 2009 Elsevier B.V., All rights reserved.

PY - 2008/3/1

Y1 - 2008/3/1

N2 - The epidermis is an attractive organ system for therapy development since it is completely accessible for both the application of new cutaneous therapeutics and subsequent monitoring of safety and efficacy. The molecular basis of a large number of hereditary epidermal diseases has now been elucidated. Many of the gene products involved in these disorders are structural molecules, including the multigene family of keratins, cell junction proteins and cytoskeletal modifying proteins. Building on this knowledge base, the causative genes contributing to complex traits of the epidermis are now emerging, such as the keratin-associated protein filaggrin in atopic eczema. As well as recent developments in ex vivo gene replacement therapy in skin blistering disorders, gene silencing methods based on RNA interference technology are currently the centre of attention in the field, as well as small molecule screening campaigns targeting proteins and pathways identified through human genetics studies.

AB - The epidermis is an attractive organ system for therapy development since it is completely accessible for both the application of new cutaneous therapeutics and subsequent monitoring of safety and efficacy. The molecular basis of a large number of hereditary epidermal diseases has now been elucidated. Many of the gene products involved in these disorders are structural molecules, including the multigene family of keratins, cell junction proteins and cytoskeletal modifying proteins. Building on this knowledge base, the causative genes contributing to complex traits of the epidermis are now emerging, such as the keratin-associated protein filaggrin in atopic eczema. As well as recent developments in ex vivo gene replacement therapy in skin blistering disorders, gene silencing methods based on RNA interference technology are currently the centre of attention in the field, as well as small molecule screening campaigns targeting proteins and pathways identified through human genetics studies.

UR - https://www.scopus.com/pages/publications/67349156412

U2 - 10.1016/j.ddmec.2008.09.001

DO - 10.1016/j.ddmec.2008.09.001

M3 - Article

AN - SCOPUS:67349156412

SN - 1740-6765

VL - 5

JO - Drug Discovery Today: Disease Mechanisms

JF - Drug Discovery Today: Disease Mechanisms

IS - 1

ER -