Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders

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

(2014) Angels García-Cazorla et al.   HUMAN MUTATION

Biochemical correlates of neuropsychiatric illness in maple syrup urine disease

(2013) Emilie R. Muelly et al.   JOURNAL OF CLINICAL INVESTIGATION

Oral Branched-Chain Amino Acids Have a Beneficial Effect on Manifestations of Hepatic Encephalopathy in a Systematic Review with Meta-Analyses of Randomized Controlled Trials

(2013) Lise L. Gluud et al.   JOURNAL OF NUTRITION

Adipose transplant for inborn errors of branched chain amino acid metabolism in mice

(2013) Heather A. Zimmerman et al.   MOLECULAR GENETICS AND METABOLISM

Improved Amino Acid, Bioenergetic Metabolite and Neurotransmitter Profiles following Human Amnion Epithelial Cell Transplant in Intermediate Maple Syrup Urine Disease Mice

(2013) Kristen J. Skvorak et al.   MOLECULAR GENETICS AND METABOLISM

Acute and Chronic Administration of the Branched-Chain Amino Acids Decreases Nerve Growth Factor in Rat Hippocampus

(2013) Giselli Scaini et al.   MOLECULAR NEUROBIOLOGY

BCAT1 promotes cell proliferation through amino acid catabolism in gliomas carrying wild-type IDH1

(2013) Martje Tönjes et al.   NATURE MEDICINE

Structure-based design and mechanisms of allosteric inhibitors for mitochondrial branched-chain  -ketoacid dehydrogenase kinase

(2013) S.-C. Tso et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Placental stem cell correction of murine intermediate maple syrup urine disease

(2012) Kristen J. Skvorak et al.   HEPATOLOGY

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

Protein and lipid damage in maple syrup urine disease patients: l-carnitine effect

(2012) Caroline Paula Mescka et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

Young Adults with MSUD and Their Transition to Adulthood: Psychosocial Issues

(2012) Wendy Packman et al.   Journal of Genetic Counseling

Chronic administration of branched-chain amino acids impairs spatial memory and increases brain-derived neurotrophic factor in a rat model

(2012) Giselli Scaini et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

(2012) G. Novarino et al.   SCIENCE

Domino Liver Transplantation in Maple Syrup Urine Disease: A Case Report and Review of the Literature

(2012) I.R. Badell et al.   TRANSPLANTATION PROCEEDINGS

Emerging Perspectives on Essential Amino Acid Metabolism in Obesity and the Insulin-Resistant State

(2012) Sean H. Adams   Advances in Nutrition

Branched-chain amino acids as pharmacological nutrients in chronic liver disease

(2011) Takumi Kawaguchi et al.   HEPATOLOGY

Liver Transplantation for Classical Maple Syrup Urine Disease: Long-Term Follow-Up in 37 Patients and Comparative United Network for Organ Sharing Experience

(2011) George V. Mazariegos et al.   JOURNAL OF PEDIATRICS

In vivo neuroprotective effect of L-carnitine against oxidative stress in maple syrup urine disease

(2011) Caroline Mescka et al.   METABOLIC BRAIN DISEASE

Metabolite profiles and the risk of developing diabetes

(2011) Thomas J Wang et al.   NATURE MEDICINE

α-Ketoisocaproic acid and leucine provoke mitochondrial bioenergetic dysfunction in rat brain

(2010) Alexandre Umpierrez Amaral et al.   BRAIN RESEARCH

Association of a Peripheral Blood Metabolic Profile With Coronary Artery Disease and Risk of Subsequent Cardiovascular Events

(2010) Svati H. Shah et al.   Circulation-Cardiovascular Genetics

Insulin resistance is associated with a metabolic profile of altered protein metabolism in Chinese and Asian-Indian men

(2010) E. S. Tai et al.   DIABETOLOGIA

Phenylbutyrate therapy for maple syrup urine disease

(2010) Nicola Brunetti-Pierri et al.   HUMAN MOLECULAR GENETICS

Adipose Tissue Branched Chain Amino Acid (BCAA) Metabolism Modulates Circulating BCAA Levels

(2010) Mark A. Herman et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Interrelationships of Leucine and Glutamate Metabolism in Cultured Astrocytes

(2010) Marc Yudkoff et al.   JOURNAL OF NEUROCHEMISTRY

Liver transplantation in children with metabolic diseases: The studies of pediatric liver transplantation experience

(2010) Ronen Arnon et al.   PEDIATRIC TRANSPLANTATION

Cognitive and adaptive functioning after liver transplantation for maple syrup urine disease: A case series

(2010) D. A. Shellmer et al.   PEDIATRIC TRANSPLANTATION

Hepatocyte transplantation (HTx) corrects selected neurometabolic abnormalities in murine intermediate maple syrup urine disease (iMSUD)

(2009) Kristen J. Skvorak et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease

(2009) W. J. Zinnanti et al.   BRAIN

A Branched-Chain Amino Acid-Related Metabolic Signature that Differentiates Obese and Lean Humans and Contributes to Insulin Resistance

(2009) Christopher B. Newgard et al.   Cell Metabolism

Relationships Between Circulating Metabolic Intermediates and Insulin Action in Overweight to Obese, Inactive Men and Women

(2009) K. M. Huffman et al.   DIABETES CARE

Classical maple syrup urine disease and brain development: Principles of management and formula design

(2009) Kevin A. Strauss et al.   MOLECULAR GENETICS AND METABOLISM

Hepatocyte Transplantation Improves Phenotype and Extends Survival in a Murine Model of Intermediate Maple Syrup Urine Disease

(2009) Kristen J Skvorak et al.   MOLECULAR THERAPY

IDH1andIDH2Mutations in Gliomas

(2009) Hai Yan et al.   NEW ENGLAND JOURNAL OF MEDICINE

Comparison of Strategies for Sustaining Weight LossThe Weight Loss Maintenance Randomized Controlled Trial

(2008) Laura P. Svetkey   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Cross-sectional multicenter study of patients with urea cycle disorders in the United States

(2008) Mendel Tuchman et al.   MOLECULAR GENETICS AND METABOLISM