Adenylosuccinate lyase deficiency

Inherent properties of adenylosuccinate lyase could explain S-Ado/SAICAr ratio due to homozygous R426H and R303C mutations

(2013) Stephen P. Ray et al.   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

The need for vigilance: False-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers

(2013) Jakub Krijt et al.   CLINICAL BIOCHEMISTRY

Early diagnosis of adenylosuccinate lyase deficiency using a high-throughput screening method and a trial of oralS-adenosyl-l-methionine as a treatment method

(2013) Michiel A van Werkhoven et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Mapping Protein-Protein Proximity in the Purinosome

(2012) Yijun Deng et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

3FC1.1 Atypical neurologic features in the evolution of adenylosuccinate lyase deficiency

(2011) B. Pérez-Dueñas   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature

(2011) Agnieszka Jurecka et al.   EUROPEAN JOURNAL OF PEDIATRICS

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

Neurologic Presentation, Diagnostics, and Therapeutic Insights in a Severe Case of Adenylosuccinate Lyase Deficiency

(2011) Agnieszka Jurecka et al.   JOURNAL OF CHILD NEUROLOGY

Mthfs is an Essential Gene in Mice and a Component of the Purinosome

(2011) Martha S. Field et al.   Frontiers in 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

Dynamic Regulation of a Metabolic Multi-enzyme Complex by Protein Kinase CK2

(2010) Songon An et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: A cellular model of adenylosuccinate lyase deficiency

(2010) Lydia K. Vliet et al.   MOLECULAR GENETICS AND METABOLISM

In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency

(2010) M. Henneke et al.   NMR IN BIOMEDICINE

Adenylosuccinate Lyase Deficiency in the United Kingdom Pediatric Population: First Three Cases

(2010) Claire T. Lundy et al.   PEDIATRIC NEUROLOGY

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

Biochemical and Biophysical Analysis of Five Disease-Associated Human Adenylosuccinate Lyase Mutants

(2009) Lushanti De Zoysa Ariyananda et al.   BIOCHEMISTRY

Misleading behavioural phenotype with adenylosuccinate lyase deficiency

(2008) Cyril Gitiaux et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

d-Ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: Absence of positive effect

(2008) A. Jurecka et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency

(2008) Agnieszka Jurecka et al.   MOLECULAR GENETICS AND METABOLISM

Reversible Compartmentalization of de Novo Purine Biosynthetic Complexes in Living Cells

(2008) S. An et al.   SCIENCE

Are purines mediators of the anticonvulsant/neuroprotective effects of ketogenic diets?

(2008) Susan A. Masino et al.   TRENDS IN NEUROSCIENCES