Work

ABCC6 Out From the Cold: Identification of the ABCC6 Substrate as a Therapy for Pseudoxanthoma Elasticum and Cardiovascular Disease.

Year: 2014

Type: article

Abstract: ABCC6 is a member of the ATP-Binding Cassette family of transporters. This diverse family of 50 proteins are involved in efflux transport of a wide variety of substrates important in several diseases including cardiovascular disease [1] and Pseudoxanthoma Elasticum [2]. This rare, progressive disease leads to a specific clinical profile, including calcified dermatological lesions, defects in Bruch’s membrane of the retina leading to bilateral blindness, and broad effects in several organs associated with aberrant calcification [3]. The substrate for ABCC6 has yet to be defined, and this remains an important research target that may affect clinical outcomes.

Source: PubMed

Authors: Eugenia T Prescott, Imran N Mungrue

Institution: Louisiana State University Health Sciences Center New Orleans

Language: English

Topic: Dermatological and Skeletal Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funder: National Heart, Lung, and Blood Institute

Awards: Determining roles of the pro-apoptotic UPR gene CHAC1 in atherosclerosis., Determining roles of the pro-apoptotic UPR gene CHAC1 in atherosclerosis.