Xeroderma pigmentosum: from symptoms and genetics to gene-based skin therapy

Cells, Tissues, Organs
Thierry Magnaldo, Alain Sarasin

Abstract

Xeroderma pigmentosum (XP) is a rare, recessively inherited genodermatosis prone to ultraviolet (UV)-induced skin neoplasms from keratinocyte origin, i.e. basal and squamous cell carcinoma. Cells from classic XP patients fail to properly eliminate UV-induced DNA lesions by the nucleotide excision repair (NER) mechanism. A variant form of XP, called XP-V suffers from faulty translesion synthesis. We review here recent data on XP gene products whose alterations affect NER and result in one of the 7 complementation groups of XP. Encouraging results of retrovirus-based genetic correction of XP keratinocytes are summarized and support realistic prospects of gene therapy for the XP-C complementation group.

Citations

Jul 21, 2006·Journal of Molecular Histology·Diana LeibelingSteffen Emmert
Jan 30, 2013·Chinese Journal of Cancer Research = Chung-kuo Yen Cheng Yen Chiu·Xia JiangKun Chen
Feb 21, 2008·European Journal of Human Genetics : EJHG·Guilherme FranciscoRoger Chammas
May 25, 2007·Stem Cells and Development·Kenneth D McMilin, Susmita Dasgupta
Jul 17, 2007·Current Opinion in Pediatrics·Jennifer D Holman, Jonathan A Dyer
Aug 31, 2006·Molecular and Cellular Biology·Courtney A LovejoyDavid Cortez
Apr 29, 2006·The Journal of Investigative Dermatology·Muriel LiboutetNadem Soufir
Nov 11, 2014·Photochemistry and Photobiology·W Clark Lambert, Muriel W Lambert
Aug 2, 2006·Mutation Research·Melissa L FishelMark R Kelley
Jun 27, 2006·DNA Repair·Keronninn Moreno Lima-BessaCarlos Frederico Martins Menck
Apr 26, 2014·Genetics and Molecular Biology·Carlos Fm Menck, Veridiana Munford
Nov 29, 2007·Human & Experimental Toxicology·Melissa G ArmeliniCarlos F M Menck
May 24, 2011·Anais Brasileiros De Dermatologia·Valquiria Pessoa Chinem, Hélio Amante Miot
Feb 5, 2021·International Journal of Dermatology·Mishri Lal Khatri

❮ Previous
Next ❯

Related Concepts

Related Feeds

Adhesion Molecules in Health and Disease

Cell adhesion molecules are a subset of cell adhesion proteins located on the cell surface involved in binding with other cells or with the extracellular matrix in the process called cell adhesion. In essence, cell adhesion molecules help cells stick to each other and to their surroundings. Cell adhesion is a crucial component in maintaining tissue structure and function. Discover the latest research on adhesion molecule and their role in health and disease here.

Carcinoma, Squamous Cell

Basal cell carcinoma is a form of malignant skin cancer found on the head and neck regions and has low rates of metastasis. Discover the latest research on basal cell carcinoma here.

CREs: Gene & Cell Therapy

Gene and cell therapy advances have shown promising outcomes for several diseases. The role of cis-regulatory elements (CREs) is crucial in the design of gene therapy vectors. Here is the latest research on CREs in gene and cell therapy.