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Article

Angiotensin I-converting enzyme Gln1069Arg mutation impairs trafficking to the cell surface resulting in selective denaturation of the C-domain.

PloS one - 3 May 2010

Danilov Sergei M, Kalinin Sergey, Chen Zhenlong, Vinokour Elena I, Nesterovitch Andrew B, Schwartz David E, Gribouval Olivier, Gubler Marie-Claire, Minshall Richard D

Abstract excerpt

BACKGROUND: Angiotensin-converting enzyme (ACE; Kininase II; CD143) hydrolyzes small peptides such as angiotensin I, bradykinin, substance P, LH-RH and several others and thus plays a key role in blood pressure regulation and vascular remodeling. Complete absence of ACE in humans leads to renal tubular dysgenesis (RTD), a severe disorder of renal tubule development characterized by persistent fetal anuria and...

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Identifiers

PMID: 20454656
DOI: 10.1371/journal.pone.0010438
PMCID: PMC2862704

Genes

ACE

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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