Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia

Antioxidants halt axonal degeneration in a mouse model of X-adrenoleukodystrophy

(2011) Jone López-Erauskin et al.   ANNALS OF NEUROLOGY

Performance of mutation pathogenicity prediction methods on missense variants

(2011) Janita Thusberg et al.   HUMAN MUTATION

Propionic acidemia: neonatal versus selective metabolic screening

(2011) S. C. Grünert et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mutation analysis in 54 propionic acidemia patients

(2011) J. P. Kraus et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Segmental uniparental disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases

(2011) Belén Pérez et al.   MOLECULAR GENETICS AND METABOLISM

Evidence of Oxidative Stress in Alzheimer's Disease Brain and Antioxidant Therapy

(2010) Domenico Praticò   Annals of the New York Academy of Sciences

Evidence of Oxidant Damage in Huntington's Disease: Translational Strategies Using Antioxidants

(2010) Edward C. Stack et al.   Annals of the New York Academy of Sciences

Functional analysis of a novel mutation in the PCCA gene identified in a late-infantile onset propionic acidemia patient

(2010) Dimitra Lianou et al.   CLINICA CHIMICA ACTA

Crystal structure of the α6β6 holoenzyme of propionyl-coenzyme A carboxylase

(2010) Christine S. Huang et al.   NATURE

Crystal Structure of Biotin Carboxylase in Complex with Substrates and Implications for Its Catalytic Mechanism

(2009) Chi-Yuan Chou et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Profiling of oxidative stress in patients with inborn errors of metabolism

(2009) Peter J. Mc Guire et al.   MOLECULAR GENETICS AND METABOLISM

High frequency of large genomic deletions in the PCCA gene causing propionic acidemia

(2009) Lourdes R. Desviat et al.   MOLECULAR GENETICS AND METABOLISM

Multiple OXPHOS Deficiency in the Liver, Kidney, Heart, and Skeletal Muscle of Patients With Methylmalonic Aciduria and Propionic Aciduria

(2009) Yves de Keyzer et al.   PEDIATRIC RESEARCH

Structural evidence for substrate-induced synergism and half-sites reactivity in biotin carboxylase

(2008) Igor Mochalkin et al.   PROTEIN SCIENCE

MAMMOTH (Matching molecular models obtained from theory): An automated method for model comparison

(2002) Angel R. Ortiz et al.   PROTEIN SCIENCE