Mutation p.L799R in the LDLR, which affects the transmembrane domain of the LDLR, prevents membrane insertion and causes secretion of the mutant LDLR

Mutation G805R in the transmembrane domain of the LDL receptor gene causes familial hypercholesterolemia by inducing ectodomain cleavage of the LDL receptor in the endoplasmic reticulum

(2014) Thea Bismo Strøm et al.   FEBS Open Bio

PCSK9 acts as a chaperone for the LDL receptor in the endoplasmic reticulum

(2013) Thea Bismo Strøm et al.   BIOCHEMICAL JOURNAL

PCSK9-mediated degradation of the LDL receptor generates a 17 kDa C-terminal LDL receptor fragment

(2013) Kristian Tveten et al.   JOURNAL OF LIPID RESEARCH

Update on activities at the Universal Protein Resource (UniProt) in 2013

(2012)   NUCLEIC ACIDS RESEARCH

Ensembl 2013

(2012) Paul Flicek et al.   NUCLEIC ACIDS RESEARCH

An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia

(2011) Lucie Dušková et al.   ATHEROSCLEROSIS

Characterization of a naturally occurring degradation product of the LDL receptor

(2011) Kristian Tveten et al.   MOLECULAR GENETICS AND METABOLISM