2020
DOI: 10.1002/1873-3468.14002
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The Human Face of ABCC6

Abstract: Researchers working on basic and translational clinical science related to ABC transporters are enthusiastic and dedicated investigators. As the field has grown, so has its contribution to human disease. Pseudoxanthoma elasticum (PXE) International, an advocacy organization established by non-scientists, began supporting research and convenings on these transporters, specifically ABCC6, the gene associated with PXE, 20 years ago. As a patient advocacy organization, we have spent more than 25 years creating a l… Show more

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Cited by 6 publications
(5 citation statements)
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“…If integration of molecular details into a physiological context is indeed possible, our grasp on the structure and function of ABCs should lead to clinically relevant insights. Evolving biochemical and structural models might help develop therapies to better address diseases related to the malfunctioning of ABCs such as CFTR or ABCC6, resulting in cystic fibrosis and PXE (Pseudoxanthoma elasticum), respectively [22–25].…”
Section: The Role Of Abc Transporters In Health and Diseasementioning
confidence: 99%
“…If integration of molecular details into a physiological context is indeed possible, our grasp on the structure and function of ABCs should lead to clinically relevant insights. Evolving biochemical and structural models might help develop therapies to better address diseases related to the malfunctioning of ABCs such as CFTR or ABCC6, resulting in cystic fibrosis and PXE (Pseudoxanthoma elasticum), respectively [22–25].…”
Section: The Role Of Abc Transporters In Health and Diseasementioning
confidence: 99%
“…You wrote an article for the FEBS Letters ABC Transporters Special Issue entitled 'The human face of ABCC6' [3]. Do you feel that having 'human faces' associated with a disease can give a more motivating human perspective to lab research?…”
Section: How Can Scientists Better Inform the Public?mentioning
confidence: 99%
“…The ATP-binding cassette 6 transporter (ABCC6), one of the ABCC subfamily members, is mainly known because gene mutations are responsible for pseudoxanthoma elasticum (PXE), a rare autosomal recessive disease characterized by a progressive ectopic calcification of elastic fibers in dermal, ocular, and vascular tissues [1][2][3]. ABCC6 is mostly expressed in the liver [4], where it promotes the release of ATP from hepatocytes into the bloodstream [5,6] and contributes to purinergic signaling [7].…”
Section: Introductionmentioning
confidence: 99%