Study of purinosome assembly in cell-based model systems with de novo purine synthesis and salvage pathway deficiencies

A New View into the Regulation of Purine Metabolism: The Purinosome

(2017) Anthony M. Pedley et al.   TRENDS IN BIOCHEMICAL SCIENCES

CRISPR-Cas9 induced mutations along de novo purine synthesis in HeLa cells result in accumulation of individual enzyme substrates and affect purinosome formation

(2016) Veronika Baresova et al.   MOLECULAR GENETICS AND METABOLISM

Spatial colocalization and functional link of purinosomes with mitochondria

(2016) J. B. French et al.   SCIENCE

Clinical severity in Lesch–Nyhan disease: The role of residual enzyme and compensatory pathways

(2015) Rong Fu et al.   MOLECULAR GENETICS AND METABOLISM

Purinosome formation as a function of the cell cycle

(2015) Chung Yu Chan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Adenylosuccinate lyase deficiency

(2014) Agnieszka Jurecka et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

(2011) V. Baresova et al.   HUMAN MOLECULAR GENETICS

Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency

(2010) Marie Zikanova et al.   HUMAN MUTATION

Microtubule-assisted mechanism for functional metabolic macromolecular complex formation

(2010) S. An et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Enzymology of Purine and Pyrimidine Antimetabolites Used in the Treatment of Cancer

(2009) William B. Parker   CHEMICAL REVIEWS

Reversible Compartmentalization of de Novo Purine Biosynthetic Complexes in Living Cells

(2008) S. An et al.   SCIENCE