γ-Secretase Gene Mutations in Familial Acne Inversa
Top Cited Papers
- 19 November 2010
- journal article
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 330 (6007) , 1065
- https://doi.org/10.1126/science.1196284
Abstract
Acne inversa (AI), also known as hidradenitis suppurativa, is a chronic, recurrent, inflammatory disease of hair follicles that often runs in families. We studied six Chinese families with features of AI as well as additional skin lesions on back, face, nape, and waist and found independent loss-of-function mutations in PSENEN, PSEN1, or NCSTN, the genes encoding essential components of the γ-secretase multiprotein complex. Our results identify the γ-secretase component genes as the culprits for a subset of familial AI, implicate the γ-secretase–Notch pathway in the molecular pathogenesis of AI, and demonstrate that familial AI can be an allelic disorder of early-onset familial Alzheimer’s disease.Keywords
This publication has 6 references indexed in Scilit:
- γ-secretases: from cell biology to therapeutic strategiesThe Lancet Neurology, 2010
- Hidradenitis suppurativaJournal of the European Academy of Dermatology and Venereology, 2009
- The presenilin hypothesis of Alzheimer's disease: Evidence for a loss-of-function pathogenic mechanismProceedings of the National Academy of Sciences, 2007
- Inversa Acne (Hidradenitis Suppurativa): A Case Report and Identification of the Locus at Chromosome 1p21.1–1q25.3Journal of Investigative Dermatology, 2006
- Length and overall sequence of the PEN‐2 C‐terminal domain determines its function in the stabilization of presenilin fragmentsJournal of Neurochemistry, 2005
- γ-Secretase Functions through Notch Signaling to Maintain Skin Appendages but Is Not Required for Their Patterning or Initial MorphogenesisDevelopmental Cell, 2004