(Q37407144)

20 August 2017

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title

Animal models of maple syrup urine disease (English)

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20 August 2017

K J Skvorak

1

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20 August 2017

9 March 2009

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Journal of Inherited Metabolic Disease

20 August 2017

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20 August 2017

32

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20 August 2017

2

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20 August 2017

229-246

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https://scigraph.springernature.com/pub.10.1007/s10545-009-1086-z

20 August 2017

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cites work

Human mutations affecting branched chain alpha-ketoacid dehydrogenase.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1086-Z

Maple syrup urine disease: clinical, EEG, and plasma amino acid correlations with a theoretical mechanism of acute neurotoxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1086-Z

ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1086-Z

The 2-oxo acid dehydrogenase complexes: recent advances

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1086-Z

Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency

21 January 2018

1 reference

12 December 2020

Maple syrup urine disease as a cause of spongiform encephalopathy in calves

1 reference

12 December 2020

Purification and properties of branched-chain alpha-keto acid dehydrogenase phosphatase from bovine kidney

1 reference

12 December 2020

Complete correction of hyperphenylalaninemia following liver-directed, recombinant AAV2/8 vector-mediated gene therapy in murine phenylketonuria.

1 reference

12 December 2020

A novel deletion creating a new terminal exon of the dihydrolipoyl transacylase gene is a founder mutation of Filipino maple syrup urine disease

1 reference

12 December 2020

Increased glucagon secretion in protein-fed rats: lack of relationship to plasma amino acids

1 reference

12 December 2020

Mechanisms responsible for regulation of branched-chain amino acid catabolism

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12 December 2020

Cloning and cDNA sequence of the dihydrolipoamide dehydrogenase component human alpha-ketoacid dehydrogenase complexes

1 reference

12 December 2020

The role of leucine in weight loss diets and glucose homeostasis

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12 December 2020

Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews

1 reference

12 December 2020

Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation

1 reference

12 December 2020

Physiological covalent regulation of rat liver branched-chain alpha-ketoacid dehydrogenase.

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12 December 2020

Lessons from genetic disorders of branched-chain amino acid metabolism

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12 December 2020

Glutamate and gamma-aminobutyric acid neurotransmitter systems in the acute phase of maple syrup urine disease and citrullinemia encephalopathies in newborn calves

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12 December 2020

Dietary thiamin level influences levels of its diphosphate form and thiamin-dependent enzymic activities of rat liver

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12 December 2020

Regulation of gene expression of branched-chain keto acid dehydrogenase complex in primary cultured hepatocytes by dexamethasone and a cAMP analog

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12 December 2020

Influence of mitochondrial enzyme deficiency on adult neurogenesis in mouse models of neurodegenerative diseases

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12 December 2020

Maple syrup urine disease. Complete primary structure of the E1 beta subunit of human branched chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease

1 reference

12 December 2020

Maple syrup urine disease: the E1beta gene of human branched-chain alpha-ketoacid dehydrogenase complex has 11 rather than 10 exons, and the 3' UTR in one of the two E1beta mRNAs arises from intronic sequences

1 reference

12 December 2020

Nucleotide and deduced amino acid sequence of the E1 alpha subunit of human liver branched-chain alpha-ketoacid dehydrogenase

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12 December 2020

Molecular heterogeneity for bovine maple syrup urine disease

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12 December 2020

Maple syrup urine disease 1954 to 1993.

1 reference

12 December 2020

Targeted disruption of the murine dihydrolipoamide dehydrogenase gene (Dld) results in perigastrulation lethality

1 reference

12 December 2020

[Mid-term outcome of 2 cases with maple syrup urine disease: role of liver transplantation in the treatment]

1 reference

12 December 2020

Phosphorylation sites and inactivation of branched-chain alpha-ketoacid dehydrogenase isolated from rat heart, bovine kidney, and rabbit liver, kidney, heart, brain, and skeletal muscle.

1 reference

12 December 2020

Signaling pathways involved in translational control of protein synthesis in skeletal muscle by leucine

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12 December 2020

Effects of thiamine in a patient with a variant form of branched-chian ketoaciduria

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12 December 2020

Acidification and glucocorticoids independently regulate branched-chain alpha-ketoacid dehydrogenase subunit genes

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12 December 2020

Correction of factor IX deficiency in mice by embryonic stem cells differentiated in vitro

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12 December 2020

Brain metabolism of branched-chain amino acids

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12 December 2020

Alpha-ketoisocaproate alters the production of both lactate and aspartate from [U-13C]glutamate in astrocytes: a 13C NMR study.

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12 December 2020

Elevation of amino acids in the interstitial space of the rat brain following infusion of large neutral amino and keto acids by microdialysis: alpha-ketoisocaproate infusion

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12 December 2020

Emerging trends in transplantation of inherited metabolic diseases

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12 December 2020

Definition of the mutation responsible for maple syrup urine disease in Poll Shorthorns and genotyping Poll Shorthorns and Poll Herefords for maple syrup urine disease alleles

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12 December 2020

Doxycycline-mediated quantitative and tissue-specific control of gene expression in transgenic mice

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12 December 2020

Compartmentation of Glutamine, Glutamate, and GABA Metabolism in Neurons and Astrocytes: Functional Implications

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12 December 2020

Disruption of BCATm in mice leads to increased energy expenditure associated with the activation of a futile protein turnover cycle

1 reference

12 December 2020

Effects of beta-hydroxy-beta-methylbutyrate (HMB) on exercise performance and body composition across varying levels of age, sex, and training experience: A review

1 reference

12 December 2020

Continuous venovenous haemodiafiltration in the acute phase of neonatal maple syrup urine disease.

1 reference

12 December 2020

Lipoamide dehydrogenase deficiency in Ashkenazi Jews: An insertion mutation in the mitochondrial leader sequence

1 reference

12 December 2020

Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population

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12 December 2020

Reduction of large neutral amino acid concentrations in plasma and CSF of patients with maple syrup urine disease during crises

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12 December 2020

Metabolism of the white blood cells in maple-syrup-urine disease

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12 December 2020

Hudson memorial lecture. Neonatal management of organic acidurias. Clinical update

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12 December 2020

Dihydrolipoyl dehydrogenase deficiency: a therapeutic trial with branched-chain amino acid restriction.

1 reference

12 December 2020

A 17-bp insertion and a Phe215----Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34

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12 December 2020

Attenuation of the alcohol preference of C57BL/6 mice during chronic renal failure

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12 December 2020

Complementation of defective leucine decarboxylation in fibroblasts from a maple syrup urine disease patient by retrovirus-mediated gene transfer

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12 December 2020

Neurochemical and histologic characterization of striatal excitotoxic lesions produced by the mitochondrial toxin 3-nitropropionic acid

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12 December 2020

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

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12 December 2020

Maple syrup urine disease in the Austronesian aboriginal tribe Paiwan of Taiwan: a novel DBT (E2) gene 4.7 kb founder deletion caused by a nonhomologous recombination between LINE-1 and Alu and the carrier-frequency determination

1 reference

12 December 2020

Liver transplantation in maple syrup urine disease

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12 December 2020

Management of acute metabolic decompensation in maple syrup urine disease: a multi-center study

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12 December 2020

Neuropathological observations in maple syrup urine disease: branched-chain ketoaciduria

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12 December 2020

Peritoneal dialysis in the treatment of metabolic crises caused by inherited disorders of organic and amino acid metabolism

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12 December 2020

The 5' flanking region of the rat LAP (C/EBP beta) gene can direct high-level, position-independent, copy number-dependent expression in multiple tissues in transgenic mice

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12 December 2020

A survey of inborn errors of amino acid metabolism and transport in man.

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12 December 2020

Maple syrup urine disease: treatment of the acutely ill newborn

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12 December 2020

Experimental models of Parkinson's disease

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12 December 2020

So-called thiamin-responsive maple syrup urine disease: 15-year follow-up of the original patient

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12 December 2020

Diagnosis and treatment of maple syrup disease: a study of 36 patients

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12 December 2020

Localization of the human dihydrolipoamide dehydrogenase gene (DLD) to 7q31----q32

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12 December 2020

Activities of branched-chain amino acid--degrading enzymes in liver from rats fed different dietary levels of protein

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12 December 2020

Metabolism of branched-chain amino acids in maple syrup urine disease

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12 December 2020

Absence of branched chain acyl-transferase as a cause of maple syrup urine disease

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12 December 2020

Oxidation of leucine and alpha-ketoisocaproate to beta-hydroxy-beta-methylbutyrate in vivo

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12 December 2020

Intellectual outcome in children with maple syrup urine disease.

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12 December 2020

Complete primary structure of the transacylase (E2b) subunit of the human branched chain alpha-keto acid dehydrogenase complex

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12 December 2020

Branched-chain amino acid metabolism

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12 December 2020

Branched-chain alpha-ketoacid dehydrogenase kinase. Molecular cloning, expression, and sequence similarity with histidine protein kinases

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12 December 2020

Abnormal dendritic development in maple syrup urine disease

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12 December 2020

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

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12 December 2020

Premature translation termination of the pre-E1 alpha subunit of the branched chain alpha-ketoacid dehydrogenase as a cause of maple syrup urine disease in Polled Hereford calves

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12 December 2020

Neutral amino acid transport. Characterization of the A and L systems in isolated rat hepatocytes

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12 December 2020

Purification and partial characterization of branched-chain alpha-ketoacid dehydrogenase kinase from rat liver and rat heart

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12 December 2020

Maple syrup urine disease in calves: a clinical, pathological and biochemical study

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12 December 2020

Maple syrup urine disease

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12 December 2020

Utility of hemodialysis in maple syrup urine disease

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12 December 2020

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

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12 December 2020

Mice deficient in dihydrolipoamide dehydrogenase show increased vulnerability to MPTP, malonate and 3-nitropropionic acid neurotoxicity

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12 December 2020

Treatment outcome of maple syrup urine disease.

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12 December 2020

Intellectual performance of children with maple syrup urine disease

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12 December 2020

Exchange transfusion in acute episodes of maple syrup urine disease. Studies on branched-chain amino and keto acids

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12 December 2020

Postmortem changes in mitochondrial respiratory enzymes in brain and a preliminary observation in Parkinson's disease.

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12 December 2020

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

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12 December 2020

Molecular basis of maple syrup urine disease and stable correction by retroviral gene transfer

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12 December 2020

Construction and nucleotide sequence of a cDNA encoding the full-length preprotein for human branched chain acyltransferase

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12 December 2020

Transcription activation of the tyrosine aminotransferase gene by glucocorticoids and cAMP in primary hepatocytes

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12 December 2020

Clearance of branched chain amino acids by peritoneal dialysis in maple syrup urine disease

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12 December 2020

Continuous venovenous haemofiltration in the acute treatment of inborn errors of metabolism

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12 December 2020

Branched-chain organic acidurias

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12 December 2020

E2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype

1 reference

12 December 2020

Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: possible beneficial effect of vitamin therapy

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12 December 2020

Thiamine-responsive inborn errors of metabolism

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12 December 2020

Avoidance behavior and neural correlates of allergen exposure in a murine model of asthma.

1 reference

12 December 2020

Regulation of messenger ribonucleic acid levels for five urea cycle enzymes in cultured rat hepatocytes. Requirements for cyclic adenosine monophosphate, glucocorticoids, and ongoing protein synthesis.

1 reference

12 December 2020

Murine embryonic stem cell-derived hepatic progenitor cells engraft in recipient livers with limited capacity of liver tissue formation

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12 December 2020

Reduction of large neutral amino acid levels in plasma and brain of hyperleucinemic rats.

1 reference

12 December 2020

Isolation of rabbit liver branched chain alpha-ketoacid dehydrogenase and regulation by phosphorylation

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12 December 2020

Identification of the mitochondrial branched chain aminotransferase as a branched chain alpha-keto acid transport protein

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12 December 2020

MAPLE SYRUP URINE DISEASE, WITH PARTICULAR REFERENCE TO DIETOTHERAPY

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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

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

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12 December 2020

Molecular mechanisms in the brain involved in the anorexia of branched-chain amino acid deficiency

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12 December 2020

Bidirectional modulation of insulin action by amino acids

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12 December 2020

Peritoneal dialysis in maple syrup urine disease.

1 reference

12 December 2020

Thiamine-responsive maple-syrup-urine disease

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12 December 2020

Management of acute decompensation of neonatal maple syrup urine disease with continuous arteriovenous haemofiltration: report of one case.

1 reference

12 December 2020

10.1007/S10545-009-1086-Z

Identifiers

DOI

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20 August 2017

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PubMed ID

19263237