Oxidative stress and mitochondrial dysfunction in Kindler syndrome

Kindler Syndrome (KS) is an autosomal recessive skin disorder characterized by skin blistering, photosensitivity, premature aging, and propensity to skin cancer. In spite of the knowledge underlying cause of this disease involving mutations of FERMT1 (fermitin family member 1), and efforts to charac...

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Veröffentlicht in:	Orphanet journal of rare diseases 2014-12, Vol.9 (1), p.211-211, Article 211
Hauptverfasser:	Zapatero-Solana, Elisabeth, García-Giménez, Jose Luis, Guerrero-Aspizua, Sara, García, Marta, Toll, Agustí, Baselga, Eulalia, Durán-Moreno, Maria, Markovic, Jelena, García-Verdugo, Jose Manuel, Conti, Claudio J, Has, Cristina, Larcher, Fernando, Pallardó, Federico V, Del Rio, Marcela
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Aged, 80 and over Biopsy Blister - diagnosis Blister - metabolism Blister - physiopathology Cancer Cells, Cultured Child Child, Preschool Dermatology Epidermolysis Bullosa - diagnosis Epidermolysis Bullosa - metabolism Epidermolysis Bullosa - physiopathology Experiments Female Genetic aspects Hospitals Humans Keratinocytes - metabolism Keratinocytes - pathology Keratinocytes - ultrastructure Ligases Male Medical research Microscopy Middle Aged Mitochondria - metabolism Mitochondria - pathology Mitochondria - ultrastructure Mutation Oxidative stress Oxidative Stress - physiology Patients Periodontal Diseases - diagnosis Periodontal Diseases - metabolism Periodontal Diseases - physiopathology Photosensitivity Disorders - diagnosis Photosensitivity Disorders - metabolism Photosensitivity Disorders - physiopathology Physiological aspects Proteins Rare diseases Skin Studies
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