Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients

Taming molecular flexibility to tackle rare diseases

(2015) Maria Vittoria Cubellis et al.   BIOCHIMIE

Ketone body metabolism and its defects

(2014) Toshiyuki Fukao et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations

(2014) James J. Pitt et al.   JOURNAL OF INHERITED METABOLIC DISEASE

New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations

(2013) Mónica Ramos et al.   European Journal of Medical Genetics

ICIEM 2013 12th International Congress of Inborn Errors of Metabolism

(2013)   JOURNAL OF INHERITED METABOLIC DISEASE

Quantitative Proteomics Reveals That Enzymes of the Ketogenic Pathway Are Associated with Prostate Cancer Progression

(2013) Punit Saraon et al.   MOLECULAR & CELLULAR PROTEOMICS

Toward the estimation of the absolute quality of individual protein structure models

(2010) Pascal Benkert et al.   BIOINFORMATICS

Crystal Structures of Human HMG-CoA Synthase Isoforms Provide Insights into Inherited Ketogenesis Disorders and Inhibitor Design

(2010) Naeem Shafqat et al.   JOURNAL OF MOLECULAR BIOLOGY

Ten novelHMGCLmutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria

(2009) Sebastián Menao et al.   HUMAN MUTATION