Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders. (Q34222287)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24651065%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

review article

1 reference

title

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

1 reference

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11 March 2020

3

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11 March 2020

author name string

Lindsay C Burrage

series ordinal

1

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11 March 2020

Sandesh C S Nagamani

series ordinal

2

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11 March 2020

Brendan H Lee

series ordinal

4

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11 March 2020

publication date

20 March 2014

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11 March 2020

published in

Human Molecular Genetics

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11 March 2020

volume

23

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11 March 2020

issue

R1

1 reference

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11 March 2020

page(s)

R1-8

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Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients

11 March 2020

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Liver transplantation for classical maple syrup urine disease: long-term follow-up in 37 patients and comparative United Network for Organ Sharing experience

5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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Phenylbutyrate therapy for maple syrup urine disease

5 July 2018

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

5 July 2018

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Adipose tissue branched chain amino acid (BCAA) metabolism modulates circulating BCAA levels.

5 July 2018

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

5 July 2018

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

5 July 2018

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

5 July 2018

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Relationships between circulating metabolic intermediates and insulin action in overweight to obese, inactive men and women

5 July 2018

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Hepatocyte transplantation improves phenotype and extends survival in a murine model of intermediate maple syrup urine disease

5 July 2018

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A branched-chain amino acid-related metabolic signature that differentiates obese and lean humans and contributes to insulin resistance

5 July 2018

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

5 July 2018

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IDH1 and IDH2 mutations in gliomas

5 July 2018

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5 July 2018

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5 July 2018

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Effect of the branched-chain alpha-keto acids accumulating in maple syrup urine disease on S100B release from glial cells

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Newborn screening may fail to identify intermediate forms of maple syrup urine disease

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Production and characterization of murine models of classic and intermediate maple syrup urine disease

5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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A new syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance.

5 July 2018

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5 July 2018

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5 July 2018

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Utility of hemodialysis in maple syrup urine disease

5 July 2018

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Alternative pathway therapy for urea cycle disorders: twenty years later

5 July 2018

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Branched chain amino acids induce apoptosis in neural cells without mitochondrial membrane depolarization or cytochrome c release: implications for neurological impairment associated with maple syrup urine disease

5 July 2018

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Liver transplantation in maple syrup urine disease

5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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Effects of abnormal metabolites of maple syrup urine disease on neurotransmitter receptor binding

5 July 2018

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5 July 2018

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Phenylacetylglutamine May Replace Urea as a Vehicle for Waste Nitrogen Excretion

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Branched-chain and other amino acids in tissues of rats fed leucine-limiting amino acid diets containing norleucine

5 July 2018

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Amino acid assignment to one of three blood-brain barrier amino acid carriers

5 July 2018

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Effect of protein ingestion on splanchnic and leg metabolism in normal man and in patients with diabetes mellitus

5 July 2018

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Inhibition of acetylcholine synthesis and of carbohydrate utilization by maple-syrup-urine disease metabolites

5 July 2018

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5 July 2018

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Deficiency of Dihydrolipoyl Dehydrogenase (a Component of the Pyruvate and α-Ketoglutarate Dehydrogenase Complexes): A Cause of Congenital Chronic Lactic Acidosis in Infancy

5 July 2018

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Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: a proposed mechanism for the thiamin-responsive phenotype.

5 July 2018

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Impact of longitudinal plasma leucine levels on the intellectual outcome in patients with classic MSUD.

21 January 2018

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Elective liver transplantation for the treatment of classical maple syrup urine disease.

21 January 2018

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Domino liver transplantation in maple syrup urine disease.

21 January 2018

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

21 January 2018

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Improved amino acid, bioenergetic metabolite and neurotransmitter profiles following human amnion epithelial cell transplant in intermediate maple syrup urine disease mice

21 January 2018

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Social outcome in adults with maple syrup urine disease (MSUD).

21 January 2018

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Young adults with MSUD and their transition to adulthood: psychosocial issues

21 January 2018

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Stimulation of lipid peroxidation in vitro in rat brain by the metabolites accumulating in maple syrup urine disease

21 January 2018

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Induction of oxidative stress in rat brain by the metabolites accumulating in maple syrup urine disease.

21 January 2018

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Morphological alterations and induction of oxidative stress in glial cells caused by the branched-chain alpha-keto acids accumulating in maple syrup urine disease

21 January 2018

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Evidence that oxidative stress is increased in plasma from patients with maple syrup urine disease

21 January 2018

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Oxidative stress in plasma from maple syrup urine disease patients during treatment.

21 January 2018

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

21 January 2018

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

21 January 2018

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Alpha-ketoisocaproic acid and leucine provoke mitochondrial bioenergetic dysfunction in rat brain

21 January 2018

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Inhibition of brain energy metabolism by the alpha-keto acids accumulating in maple syrup urine disease

21 January 2018

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Branched chain keto-acids exert biphasic effects on alpha-ketoglutarate-stimulated respiration in intact rat liver mitochondria

21 January 2018

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Effect of leucine administration on creatine kinase activity in rat brain.

21 January 2018

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Acute and chronic administration of the branched-chain amino acids decreases nerve growth factor in rat hippocampus

21 January 2018

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

21 January 2018

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alpha-Ketoisocaproic acid regulates phosphorylation of intermediate filaments in postnatal rat cortical slices through ionotropic glutamatergic receptors

21 January 2018

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Alpha-keto-beta-methylvaleric acid increases the in vitro phosphorylation of intermediate filaments in cerebral cortex of young rats through the gabaergic system

21 January 2018

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A novel regulatory defect in the branched-chain α-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease.

21 January 2018

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Long-term treatment with sodium phenylbutyrate in ornithine transcarbamylase-deficient patients

21 January 2018

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Plasma Amino Acid Levels and Insulin Secretion in Obesity

21 January 2018

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Association of a peripheral blood metabolic profile with coronary artery disease and risk of subsequent cardiovascular events

21 January 2018

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Influence of alpha-ketoacids on the respiration of brain in vitro.

21 January 2018

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Maple syrup urine disease

28 October 2018

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12 December 2020

Effects of oral branched-chain amino acid granules on event-free survival in patients with liver cirrhosis

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12 December 2020

Domino hepatic transplantation in maple syrup urine disease

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12 December 2020

Inhibition of brain energy metabolism by the branched-chain amino acids accumulating in maple syrup urine disease

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12 December 2020

Influence of dietary deprivations on plasma concentration of free amino acids of man

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12 December 2020

Interrelationships of leucine and glutamate metabolism in cultured astrocytes

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12 December 2020

Long-term oral administration of branched chain amino acids after curative resection of hepatocellular carcinoma: a prospective randomized trial. The San-in Group of Liver Surgery

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12 December 2020

Interaction of branched chain amino acids and keto acids upon pancreatic islet metabolism and insulin secretion

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12 December 2020

Effect of oral supplementation with branched-chain amino acid granules on serum albumin level in the early stage of cirrhosis: a randomized pilot trial

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12 December 2020

Significance of serum aminograms in diagnosis and prognosis of liver diseases

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12 December 2020

Dialysis in neonates with inborn errors of metabolism

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12 December 2020

Maple syrup disease; isolation and identification of organic acids in the urine

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12 December 2020

Outcome of early and long-term management of classical maple syrup urine disease

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12 December 2020

Neonatal hemodialysis: effective therapy for the encephalopathy of inborn errors of metabolism

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12 December 2020

Intellectual performance of children with maple syrup urine disease

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12 December 2020

Branched-chain L-amino acid metabolism in classical maple syrup urine disease after orthotopic liver transplantation

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12 December 2020

Maple syrup urine disease: a possible biochemical basis for the clinical heterogeneity

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12 December 2020

Identifiers

DOI

10.1093/HMG/DDU123

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24651065%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24651065%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

PubMed publication ID

24651065

1 reference