Endoplasmic reticulum quality control of LDLR variants associated with familial hypercholesterolemia
Praseetha Kizhakkedath(United Arab Emirates University), Bassam R. Ali(Abu Dhabi University)
Cited by 52
Related Papers
Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome
|The American Journal of Human Genetics|2008|399
Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients
|Human Molecular Genetics|2010|81
Pathological Crosstalk Between Oxidized LDL and ER Stress in Human Diseases: A Comprehensive Review
|Frontiers in Cell and Developmental Biology|2021|45
A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking
|BMC Medical Genetics|2014|33
Degradation routes of trafficking-defective VLDLR mutants associated with Dysequilibrium syndrome
|Scientific Reports|2018|18