Calcium pump disorders of the skin
| Autor: | Alain Hovnanian, Lucie Foggia |
|---|---|
| Rok vydání: | 2004 |
| Předmět: |
medicine.medical_specialty
Positional cloning Pemphigus Benign Familial Calcium pump ATPase chemistry.chemical_element Golgi Apparatus Calcium-Transporting ATPases Calcium Sarcoplasmic Reticulum Calcium-Transporting ATPases Diagnosis Differential symbols.namesake Desmosome Internal medicine ATP2A2 medicine Cell Adhesion Homeostasis Humans Genetics (clinical) Secretory pathway biology Golgi apparatus Cell biology Protein Structure Tertiary Sarcoplasmic Reticulum medicine.anatomical_structure Endocrinology chemistry symbols biology.protein Darier Disease |
| Zdroj: | American journal of medical genetics. Part C, Seminars in medical genetics. (1) |
| ISSN: | 1552-4868 |
| Popis: | The causes of Darier disease (DD) and Hailey-Hailey disease (HHD) have eluded clinicians and scientists for more than 60 years. DD is characterized by loss of adhesion between suprabasal epidermal cells associated with abnormal keratinization, while loss of epidermal cell-to-cell adhesion is predominant in HHD. The genes for both conditions have recently been identified using candidate positional cloning approaches. The gene for DD (ATP2A2) encodes a calcium transport ATPase of the sarco (endo)plasmic reticulum (SERCA2) Verboomen et al. [1992: Biochem J 286(Pt 2):591-595], while the gene for HHD (ATP2C1) codes for a secretory pathway for calcium and manganese transport ATPase of the Golgi apparatus (SPCA1) Hu et al. [2000: Nat Genet 24:61-65]. These results have provided completely new insights into the role of calcium and/or manganese in maintaining skin integrity. Although the precise disease mechanisms remain to be understood, these discoveries open a new field in research for the understanding and the treatment of these distressing disorders. |
| Databáze: | OpenAIRE |
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