(Q44238023)

English

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.

scientific article published on 12 December 2012

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scholarly article

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Europe PubMed Central

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16 February 2020

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 (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23086801%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

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Alfonso Oyarzabal

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23086801%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

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Mercedes Martínez-Pardo

2

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16 February 2020

Begoña Merinero

3

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16 February 2020

Rosa Navarrete

4

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16 February 2020

Lourdes R Desviat

5

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16 February 2020

Magdalena Ugarte

6

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16 February 2020

Pilar Rodríguez-Pombo

7

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16 February 2020

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publication date

12 December 2012

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16 February 2020

1 reference

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16 February 2020

34

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16 February 2020

2

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16 February 2020

355-362

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16 February 2020

Defining the pathogenicity of creatine deficiency syndrome.

1 reference

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21 January 2018

Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype

1 reference

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21 January 2018

Description of the mutations in 15 subjects with variant forms of maple syrup urine disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22242

21 January 2018

Mechanisms responsible for regulation of branched-chain amino acid catabolism

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Identification of a novel PP2C-type mitochondrial phosphatase

1 reference

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21 January 2018

Novel genomic techniques open new avenues in the analysis of monogenic disorders

1 reference

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21 January 2018

The consequences of uniparental disomy and copy number neutral loss-of-heterozygosity during human development and cancer

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21 January 2018

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

1 reference

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21 January 2018

A novel mitochondrial matrix serine/threonine protein phosphatase regulates the mitochondria permeability transition pore and is essential for cellular survival and development

1 reference

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21 January 2018

Functional characterization of a mitochondrial Ser/Thr protein phosphatase in cell death regulation

1 reference

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21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22242

21 January 2018

Functional diversity of mammalian type 2C protein phosphatase isoforms: new tales from an old family

1 reference

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21 January 2018

Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22242

21 January 2018

Tissue-specific translation of murine branched-chain alpha-ketoacid dehydrogenase kinase mRNA is dependent upon an upstream open reading frame in the 5'-untranslated region

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22242

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22242

21 January 2018

Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22242

21 January 2018

Analyzing real-time PCR data by the comparative C(T) method

1 reference

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21 January 2018

Catabolism of branched-chain amino acids in heart failure: insights from genetic models.

1 reference

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21 January 2018

Activation of protein serine/threonine phosphatase PP2Cα efficiently prevents liver fibrosis

1 reference

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21 January 2018

Structural and Biochemical Characterization of Human Mitochondrial Branched-chain -Ketoacid Dehydrogenase Phosphatase

1 reference

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21 January 2018

Tissue-specific and nutrient regulation of the branched-chain α-keto acid dehydrogenase phosphatase, protein phosphatase 2Cm (PP2Cm).

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Lessons from genetic disorders of branched-chain amino acid metabolism

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22242

7 January 2021

based on heuristic

inferred from DOI database lookup

Regulation of branched-chain amino acid catabolism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22242

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutational spectrum of maple syrup urine disease in Spain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22242

7 January 2021

based on heuristic

inferred from DOI database lookup

Rapid diagnosis of maple syrup urine disease (branched chain ketoaciduria) by micro-enzyme assay in leukocytes and fibroblasts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22242

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.22242

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23086801%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23086801%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

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