(Q34505609)

2 August 2017

Phenylbutyrate therapy for maple syrup urine disease (English)

1 reference

2 August 2017

8

Chunli Yu

1 reference

2 August 2017

Nicola Brunetti-Pierri

1

1 reference

2 August 2017

Brendan Lanpher

2

1 reference

2 August 2017

Ayelet Erez

3

1 reference

2 August 2017

Elitsa A Ananieva

4

1 reference

2 August 2017

Mohammad Islam

5

1 reference

2 August 2017

Juan C Marini

6

1 reference

2 August 2017

Qin Sun

7

1 reference

2 August 2017

Madhuri Hegde

9

1 reference

2 August 2017

Jun Li

10

1 reference

2 August 2017

R Max Wynn

11

1 reference

2 August 2017

David T Chuang

12

1 reference

2 August 2017

Susan Hutson

13

1 reference

2 August 2017

Brendan Lee

14

1 reference

2 August 2017

23 November 2010

1 reference

2 August 2017

Human Molecular Genetics

1 reference

2 August 2017

20

1 reference

2 August 2017

4

1 reference

2 August 2017

631-640

1 reference

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

2 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024040

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024040

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024040

A synchronized substrate-gating mechanism revealed by cubic-core structure of the bovine branched-chain alpha-ketoacid dehydrogenase complex

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024040

Human mitochondrial branched chain aminotransferase isozyme: structural role of the CXXC center in catalysis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024040

Anticancer activities of histone deacetylase inhibitors

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024040

Chemical chaperones reduce ER stress and restore glucose homeostasis in a mouse model of type 2 diabetes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024040

Neuroprotective agents for clinical trials in ALS: a systematic assessment

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024040

A versatile conformational switch regulates reactivity in human branched-chain alpha-ketoacid dehydrogenase

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024040

Lessons from genetic disorders of branched-chain amino acid metabolism

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024040

Molecular mechanism for regulation of the human mitochondrial branched-chain alpha-ketoacid dehydrogenase complex by phosphorylation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024040

Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024040

Cross-talk between thiamin diphosphate binding and phosphorylation loop conformation in human branched-chain alpha-keto acid decarboxylase/dehydrogenase

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024040

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024040

Evidence of CFTR function in cystic fibrosis after systemic administration of 4-phenylbutyrate

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024040

Tetrameric assembly and conservation in the ATP-binding domain of rat branched-chain alpha-ketoacid dehydrogenase kinase

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024040

Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024040

Studies on the regulation of the mitochondrial alpha-ketoacid dehydrogenase complexes and their kinases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024040

Occurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: multiple-exon skipping as a secondary effect of the mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024040

Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024040

Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024040

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024040

Molecular phenotypes in cultured maple syrup urine disease cells. Complete E1 alpha cDNA sequence and mRNA and subunit contents of the human branched chain alpha-keto acid dehydrogenase complex

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024040

Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024040

The 2-oxo acid dehydrogenase complexes: recent advances

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024040

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024040

Purification and characterization of branched chain alpha-ketoacid dehydrogenase from bovine liver mitochondria

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024040

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

7 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ507

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ507

Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ507

Relationship of causative genetic mutations in maple syrup urine disease with their clinical expression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ507

Morphological alterations and cell death provoked by the branched-chain alpha-amino acids accumulating in maple syrup urine disease in astrocytes from rat cerebral cortex

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ507

Natural osmolyte trimethylamine N-oxide corrects assembly defects of mutant branched-chain alpha-ketoacid decarboxylase in maple syrup urine disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ507

Whole-body L-leucine oxidation in patients with variant form of maple syrup urine disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ507

Sodium phenylbutyrate in Huntington's disease: a dose-finding study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ507

Phenylbutyrate ameliorates cognitive deficit and reduces tau pathology in an Alzheimer's disease mouse model

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ507

Potential role of leucine metabolism in the leucine-signaling pathway involving mTOR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ507

Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ507

Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ507

Role of branched-chain aminotransferase isoenzymes and gabapentin in neurotransmitter metabolism.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024040

Clofibric acid, phenylpyruvate, and dichloroacetate inhibition of branched-chain alpha-ketoacid dehydrogenase kinase in vitro and in perfused rat heart

27 October 2018

1 reference

12 December 2020

Oral sodium phenylbutyrate therapy in homozygous beta thalassemia: a clinical trial

1 reference

12 December 2020

Treatment of thalassaemia major with phenylbutyrate and hydroxyurea

1 reference

12 December 2020

Branched-chain keto-acids and pyruvate in blood: measurement by HPLC with fluorimetric detection and changes in older subjects

1 reference

12 December 2020

Intermittent branched-chain ketonuria. Variant of maple-syrup-urine disease

1 reference

12 December 2020

A new variant of maple syrup urine disease (branched chain ketoaciduria). Clinical and biochemical evaluation

1 reference

12 December 2020

A novel branched-chain amino acid metabolon. Protein-protein interactions in a supramolecular complex

1 reference

12 December 2020

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

1 reference

12 December 2020

Branched chain alpha-keto acid oxidative decarboxylation in skeletal muscle mitochondria. Effect of isolation procedure and mitochondrial delta pH

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDQ507

1 reference

2 August 2017

1 reference

2 August 2017

1 reference