[HTML][HTML] Niemann-Pick type C1 I1061T mutant encodes a functional protein that is selected for endoplasmic reticulum-associated degradation due to protein …
ME Gelsthorpe, N Baumann, E Millard, SE Gale… - Journal of Biological …, 2008 - ASBMB
Over 200 disease-causing mutations have been identified in the NPC1 gene. The most
prevalent mutation, NPC1 I1061T, is predicted to lie within the cysteine-rich luminal domain
and is associated with the classic juvenile-onset phenotype of Niemann-Pick type C
disease. To gain insight into the molecular mechanism by which the NPC1 I1061T mutation
causes disease, we examined expression of the mutant protein in human fibroblasts
homozygous for the NPC1 I1061T mutation. Despite similar NPC1 mRNA levels between …
prevalent mutation, NPC1 I1061T, is predicted to lie within the cysteine-rich luminal domain
and is associated with the classic juvenile-onset phenotype of Niemann-Pick type C
disease. To gain insight into the molecular mechanism by which the NPC1 I1061T mutation
causes disease, we examined expression of the mutant protein in human fibroblasts
homozygous for the NPC1 I1061T mutation. Despite similar NPC1 mRNA levels between …