ABC transporters: human disease and pharmacotherapeutic potential
Adenosine triphosphate (ATP)-binding cassette (ABC) transporters are a 48-member
superfamily of membrane proteins that actively transport a variety of biological substrates …
superfamily of membrane proteins that actively transport a variety of biological substrates …
Pseudoxanthoma elasticum
DP Germain - Orphanet journal of rare diseases, 2017 - Springer
Pseudoxanthoma elasticum (PXE) is a genetic metabolic disease with autosomal recessive
inheritance caused by mutations in the ABCC6 gene. The lack of functional ABCC6 protein …
inheritance caused by mutations in the ABCC6 gene. The lack of functional ABCC6 protein …
Pyrophosphate: a key inhibitor of mineralisation
Highlights•Pyrophosphate prevents unwanted calcification making it the body's natural
'water-softener'.•The breakdown of ATP released from cells represents a key source of …
'water-softener'.•The breakdown of ATP released from cells represents a key source of …
Endogenous calcification inhibitors in the prevention of vascular calcification: a consensus statement from the COST action EuroSoftCalcNet
The physicochemical deposition of calcium-phosphate in the arterial wall is prevented by
calcification inhibitors. Studies in cohorts of patients with rare genetic diseases have shed …
calcification inhibitors. Studies in cohorts of patients with rare genetic diseases have shed …
The role of ABC transporters in ovarian cancer progression and chemoresistance
Over 80% of ovarian cancer patients develop chemoresistance which results in a lethal
course of the disease. A well-established cause of chemoresistance involves the family of …
course of the disease. A well-established cause of chemoresistance involves the family of …
Structure and function of hepatobiliary ATP binding cassette transporters
The liver is beyond any doubt the most important metabolic organ of the human body. This
function requires an intensive crosstalk within liver cellular structures, but also with other …
function requires an intensive crosstalk within liver cellular structures, but also with other …
Ectopic calcification and hypophosphatemic rickets: natural history of ENPP1 and ABCC6 deficiencies
CR Ferreira, K Kintzinger, ME Hackbarth… - Journal of Bone and …, 2021 - academic.oup.com
Generalized arterial calcification of infancy (GACI) is a rare disorder caused by ENPP1 or
ABCC6 variants. GACI is characterized by low pyrophosphate, arterial calcification, and high …
ABCC6 variants. GACI is characterized by low pyrophosphate, arterial calcification, and high …
Magnesium counteracts vascular calcification: passive interference or active modulation?
AD Ter Braake, CM Shanahan… - … , and vascular biology, 2017 - Am Heart Assoc
Over the last decade, an increasing number of studies report a close relationship between
serum magnesium concentration and cardiovascular disease risk in the general population …
serum magnesium concentration and cardiovascular disease risk in the general population …
[HTML][HTML] Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)
CR Ferreira, ME Hackbarth, SG Ziegler, KS Pan… - Genetics in …, 2021 - Elsevier
Purpose Generalized arterial calcification of infancy (GACI), characterized by vascular
calcifications that are often fatal shortly after birth, is usually caused by deficiency of ENPP1 …
calcifications that are often fatal shortly after birth, is usually caused by deficiency of ENPP1 …
Oral administration of pyrophosphate inhibits connective tissue calcification
Various disorders including pseudoxanthoma elasticum (PXE) and generalized arterial
calcification of infancy (GACI), which are caused by inactivating mutations in ABCC 6 and …
calcification of infancy (GACI), which are caused by inactivating mutations in ABCC 6 and …