Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Autosomal-dominant calcium ATPase disorders.

Literature DB >> 16794587

Autosomal-dominant calcium ATPase disorders.

Abstract

Darier disease (DD) and Hailey-Hailey disease (HHD) are the only known autosomal-dominant Ca2+ ATPase disorders. Epidermal symptoms selectively occur in the affected individuals, the precise reason for which is still not fully understood. Here, we review the clinical, epidermal, and molecular features of the two genodermatoses. It is concluded that epidermal Ca2+ regulation disturbances and epigenetic factors may play an even more prominent role in the pathogenesis of DD and HHD than earlier appreciated.

Entities: Chemical Disease

Mesh：

Substances：

Year: 2006 PMID： 16794587 DOI： 10.1038/sj.jid.5700447

Source DB: PubMed Journal: J Invest Dermatol ISSN： 0022-202X Impact factor: 8.551

Keyword Cloud
Cited

10 in total

1. Weepy pruritic rash in the groin.

Authors: Jennifer Clay Cather; Lauren Hoffman
Journal: Proc (Bayl Univ Med Cent) Date: 2007-10

Review 2. Secretory pathway stress responses as possible mechanisms of disease involving Golgi Ca2+ pump dysfunction.

Authors: Gary E Shull; Marian L Miller; Vikram Prasad
Journal: Biofactors Date: 2011-06-14 Impact factor: 6.113

3. The remarkable capacity for gut microbial and host interactions.

Authors: Dorottya Nagy-Szakal; Richard Kellermayer
Journal: Gut Microbes Date: 2011-05-01

4. Ionic leakage underlies a gain-of-function effect of dominant disease mutations affecting diverse P-type ATPases.

Authors: Maki Kaneko; Bela S Desai; Boaz Cook
Journal: Nat Genet Date: 2013-12-15 Impact factor: 38.330

5. Golgi calcium pump secretory pathway calcium ATPase 1 (SPCA1) is a key regulator of insulin-like growth factor receptor (IGF1R) processing in the basal-like breast cancer cell line MDA-MB-231.

Authors: Desma M Grice; Irina Vetter; Helen M Faddy; Paraic A Kenny; Sarah J Roberts-Thomson; Gregory R Monteith
Journal: J Biol Chem Date: 2010-09-13 Impact factor: 5.157

6. Tissue nonspecific alkaline phosphatase is activated via a two-step mechanism by zinc transport complexes in the early secretory pathway.

Authors: Ayako Fukunaka; Yayoi Kurokawa; Fumie Teranishi; Israel Sekler; Kimimitsu Oda; M Leigh Ackland; Victor Faundez; Makoto Hiromura; Seiji Masuda; Masaya Nagao; Shuichi Enomoto; Taiho Kambe
Journal: J Biol Chem Date: 2011-03-14 Impact factor: 5.157

Autosomal-dominant calcium ATPase disorders.

1. Weepy pruritic rash in the groin.

Review 2. Secretory pathway stress responses as possible mechanisms of disease involving Golgi Ca2+ pump dysfunction.

3. The remarkable capacity for gut microbial and host interactions.

4. Ionic leakage underlies a gain-of-function effect of dominant disease mutations affecting diverse P-type ATPases.

5. Golgi calcium pump secretory pathway calcium ATPase 1 (SPCA1) is a key regulator of insulin-like growth factor receptor (IGF1R) processing in the basal-like breast cancer cell line MDA-MB-231.

6. Tissue nonspecific alkaline phosphatase is activated via a two-step mechanism by zinc transport complexes in the early secretory pathway.

7. A family with atypical Hailey Hailey disease--is there more to the underlying genetics than ATP2C1?

Review 8. Non-Desmoglein Antibodies in Patients With Pemphigus Vulgaris.

9. Yeast-Based Screen to Identify Natural Compounds with a Potential Therapeutic Effect in Hailey-Hailey Disease.

10. SERCA is critical to control the Bowditch effect in the heart.