(Q33238292)

24 July 2017

title

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

1 reference

maple syrup urine disease

24 July 2017

main subject

1 reference

1 reference

Gregg E Homanics

1

0 references

Simon C Watkins

object named as

Simon Watkins

4

1 reference

ORCID Public Data File 2021

author name string

Kristen Skvorak

2

1 reference

24 July 2017

Carolyn Ferguson

3

1 reference

24 July 2017

Harbhajan S Paul

5

1 reference

24 July 2017

publication date

31 March 2006

1 reference

24 July 2017

1 reference

24 July 2017

volume

7

1 reference

24 July 2017

page(s)

33

1 reference

Maple syrup urine disease in five hereford calves in ontario.

24 July 2017

cites work

1 reference

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Lessons from genetic disorders of branched-chain amino acid metabolism

21 June 2018

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

21 June 2018

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

21 June 2018

1 reference

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

21 June 2018

1 reference

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Expression, purification, and structural analysis of the trimeric form of the catalytic domain of the Escherichia coli dihydrolipoamide succinyltransferase

21 June 2018

1 reference

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Liver transplantation in maple syrup urine disease

21 June 2018

1 reference

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A molecular model of human branched-chain amino acid metabolism

21 June 2018

1 reference

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1448208

Maple syrup urine disease 1954 to 1993.

21 June 2018

1 reference

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

21 June 2018

1 reference

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Branched-chain amino acid metabolism

21 June 2018

1 reference

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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

21 June 2018

1 reference

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Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes

21 June 2018

1 reference

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Introns increase transcriptional efficiency in transgenic mice

21 June 2018

1 reference

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Disruption of the proto-oncogene int-2 in mouse embryo-derived stem cells: a general strategy for targeting mutations to non-selectable genes

21 June 2018

1 reference

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The 2-oxo acid dehydrogenase complexes: recent advances

21 June 2018

1 reference

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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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1448208

Embryonic stem cells alone are able to support fetal development in the mouse.

21 June 2018

1 reference

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Neonatal lethality and lymphopenia in mice with a homozygous disruption of the c-abl proto-oncogene

21 June 2018

1 reference

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Heterologous introns can enhance expression of transgenes in mice

21 June 2018

1 reference

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Atomic structure of the cubic core of the pyruvate dehydrogenase multienzyme complex

21 June 2018

1 reference

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Tight control of gene expression in mammalian cells by tetracycline-responsive promoters

21 June 2018

1 reference

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Distribution of branched-chain alpha-keto acid dehydrogenases in primate tissues

21 June 2018

1 reference

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

21 June 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-7-33

Sustained correction of disease in naive and AAV2-pretreated hemophilia B dogs: AAV2/8-mediated, liver-directed gene therapy

21 January 2018

1 reference

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Long-term correction of hyperphenylalaninemia by AAV-mediated gene transfer leads to behavioral recovery in phenylketonuria mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-7-33

Stable correction of maple syrup urine disease in cells from a Mennonite patient by retroviral-mediated gene transfer

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-7-33

Isolated hepatocyte transplantation for Crigler-Najjar syndrome type 1.

21 January 2018

1 reference

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Hepatocyte transplantation as a treatment for glycogen storage disease type 1a.

21 January 2018

1 reference

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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.

21 January 2018

1 reference

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

21 January 2018

1 reference

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Gene knockout of the alpha6 subunit of the gamma-aminobutyric acid type A receptor: lack of effect on responses to ethanol, pentobarbital, and general anesthetics.

31 October 2018

1 reference

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Role of ATP in the regulation of branched-chain alpha-keto acid dehydrogenase activity in liver and muscle mitochondria of fed, fasted, and diabetic rats.

31 October 2018

1 reference

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A decrease in glycine cleavage activity in the liver of a patient with dihydrolipoyl dehydrogenase deficiency

31 October 2018

1 reference

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Thiamine increases the specific activity of human liver branched chain α-ketoacid dehydrogenase

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-7-33

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-7-33

Ultrastructural findings in maple syrup urine disease in Poll Hereford calves

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-7-33

Mechanism of increased conversion of branched chain keto acid dehydrogenase from inactive to active form by a medium chain fatty acid (octanoate) in skeletal muscle

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16579849

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16579849

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2350-7-33

1 reference

Dimensions Publication ID

24 July 2017

0 references

1 reference

24 July 2017

1 reference