Ontology highlight
ABSTRACT:
SUBMITTER: de Oliveira RM
PROVIDER: S-EPMC3111453 | biostudies-literature | 2011
REPOSITORIES: biostudies-literature
de Oliveira Rita Machado RM Marijanovic Zrinka Z Carvalho Filipe F Miltényi Gabriel Miltenberger GM Matos Joana Estevão JE Tenreiro Sandra S Oliveira Sónia S Enguita Francisco Javier FJ Stone Rosário R Outeiro Tiago Fleming TF
PloS one 20110609 6
Protein conformational disorders are associated with the appearance, persistence, accumulation, and misprocessing of aberrant proteins in the cell. The etiology of renal tubular dysgenesis (RTD) is linked to mutations in the angiotensin-converting enzyme (ACE). Here, we report the identification of a novel ACE mutation (Q1069R) in an RTD patient. ACE Q1069R is found sequestered in the endoplasmic reticulum and is also subject to increased proteasomal degradation, preventing its transport to the ...[more]