Two Novel Mutations in theBCKDK(Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients

A Novel Regulatory Defect in the Branched-Chain α-Keto Acid Dehydrogenase Complex Due to a Mutation in thePPM1KGene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease

(2012) Alfonso Oyarzabal et al.   HUMAN MUTATION

Structural and Biochemical Characterization of Human Mitochondrial Branched-chain α-Ketoacid Dehydrogenase Phosphatase

(2012) R. Max Wynn et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Tissue-specific and Nutrient Regulation of the Branched-chain α-Keto Acid Dehydrogenase Phosphatase, Protein Phosphatase 2Cm (PP2Cm)

(2012) Meiyi Zhou et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defects

(2012) Eva Richard et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

VARIANT: Command Line, Web service and Web interface for fast and accurate functional characterization of variants found by Next-Generation Sequencing

(2012) I. Medina et al.   NUCLEIC ACIDS RESEARCH

Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

(2012) G. Novarino et al.   SCIENCE

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Amino acid metabolism in patients with propionic acidaemia

(2010) Sabine Scholl-Bürgi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)

(2009) Eva Richard et al.   HUMAN MUTATION

Branched-chain Amino Acid Metabolon

(2009) Mohammad Mainul Islam et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Protein phosphatase 2Cm is a critical regulator of branched-chain amino acid catabolism in mice and cultured cells

(2009) Gang Lu et al.   JOURNAL OF CLINICAL INVESTIGATION

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Acrodermatitis Enteropathica-Like Eruption in Metabolic Disorders: Acrodermatitis Dysmetabolica Is Proposed as a Better Term

(2009) Duru Tabanlıoğlu et al.   PEDIATRIC DERMATOLOGY