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Article

Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency.

Human molecular genetics - 1 Apr 2012

Baresova Veronika, Skopova Vaclava, Sikora Jakub, Patterson David, Sovova Jana, Zikanova Marie, Kmoch Stanislav

Abstract excerpt

The purinosome is a multienzyme complex composed by the enzymes active in de novo purine synthesis (DNPS) that cells transiently assemble in their cytosol upon depletion or increased demand of purines. The process of purinosome formation has thus far been demonstrated and studied only in human epithelial cervical cancer cells (HeLa) and human liver carcinoma cells (C3A) transiently expressing recombinant...

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Source

Identifiers

PMID: 22180458
DOI: 10.1093/hmg/ddr591

Genes

ADSL
ATIC

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency.PMID 22180458Read ↗

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