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Article

The endosomal protein-sorting receptor sortilin has a role in trafficking α-1 antitrypsin.

Genetics - 1 Nov 2012

Gelling Cristy L, Dawes Ian W, Perlmutter David H, Fisher Edward A, Brodsky Jeffrey L

Abstract excerpt

Up to 1 in 3000 individuals in the United States have α-1 antitrypsin deficiency, and the most common cause of this disease is homozygosity for the antitrypsin-Z variant (ATZ). ATZ is inefficiently secreted, resulting in protein deficiency in the lungs and toxic polymer accumulation in the liver....

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Identifiers

PMID: 22923381
DOI: 10.1534/genetics.112.143487
PMCID: PMC3522165

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22923381-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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