(Q24676326)

triosephosphate isomerase deficiency

GOA release 2020-03-11

1 reference

Alicia M Celotto

1

0 references

Adam C Frank

series ordinal

2

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Jacquelyn L Seigle

series ordinal

3

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Michael J Palladino

series ordinal

4

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language of work or name

English

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publication date

November 2006

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published in

Genetics

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volume

174

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issue

3

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page(s)

1237-46

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cites work

Molecular analysis of a series of alleles in humans with reduced activity at the triosephosphate isomerase locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1667072

Human triosephosphate isomerase deficiency resulting from mutation of Phe-240

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1667072

Crystal structure of recombinant human triosephosphate isomerase at 2.8 A resolution. Triosephosphate isomerase-related human genetic disorders and comparison with the trypanosomal enzyme

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1667072

Human triose-phosphate isomerase deficiency: a single amino acid substitution results in a thermolabile enzyme

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1667072

Human triosephosphate isomerase cDNA and protein structure. Studies of triosephosphate isomerase deficiency in man

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1667072

Refined 1.83 A structure of trypanosomal triosephosphate isomerase crystallized in the presence of 2.4 M-ammonium sulphate. A comparison with the structure of the trypanosomal triosephosphate isomerase-glycerol-3-phosphate complex

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1667072

Primary structure of human triosephosphate isomerase

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1667072

HEREDITARY HEMOLYTIC ANEMIA WITH TRIOSEPHOSPHATE ISOMERASE DEFICIENCY

7 April 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1667072

Triosephosphate isomerase deficiency: historical perspectives and molecular aspects

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1667072

Structure of chicken muscle triose phosphate isomerase determined crystallographically at 2.5Å resolution: using amino acid sequence data

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1667072

Characterization of triosephosphate isomerase mutants with reduced enzyme activity in Mus musculus

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1667072

Population genetics of the metabolically related Adh, Gpdh and Tpi polymorphisms in Drosophila melanogaster : II. Temporal and Spatial Variation in an Orchard Population

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1667072

Structure of a high-resolution crystal form of human triosephosphate isomerase: improvement of crystals using the gel-tube method

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1667072

Drosophila: a "model" model system to study neurodegeneration

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1667072

Triosephosphate isomerase deficiency: consequences of an inherited mutation at mRNA, protein and metabolic levels

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1667072

Structure of triosephosphate isomerase from Escherichia coli determined at 2.6 A resolution

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1667072

Temperature-sensitive paralytic mutants are enriched for those causing neurodegeneration in Drosophila.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1667072

Triosephosphate isomerase deficiency: a neurodegenerative misfolding disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1667072

Search for the pathogenesis of the differing phenotype in two compound heterozygote Hungarian brothers with the same genotypic triosephosphate isomerase deficiency

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1667072

Premature translation termination mediates triosephosphate isomerase mRNA degradation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1667072

Genetic and cytogenetic studies of four glycolytic enzymes in Drosophila melanogaster: Aldolase, triosephosphate isomerase, 3-phosphoglycerate kinase, and phosphoglucomutase

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1667072

A-to-I pre-mRNA editing in Drosophila is primarily involved in adult nervous system function and integrity

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1667072

Neuroprotective effects of creatine and cyclocreatine in animal models of Huntington's disease.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1667072

Drosophila mutants with opposing effects on nerve excitability: genetic and spatial interactions in repetitive firing

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1667072

Functional hemizygosity in the human genome: direct estimate from twelve erythrocyte enzyme loci.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1667072

Triosephosphate isomerase deficiency: haemolytic anaemia, myopathy with altered mitochondria and mental retardation due to a new variant with accelerated enzyme catabolism and diminished specific activity.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1667072

Structure and expression of the triose phosphate isomerase (Tpi) gene of Drosophila melanogaster

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1667072

Mitochondrial encephalomyopathy in Drosophila.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1667072

Neuroprotective mechanisms of creatine occur in the absence of mitochondrial creatine kinase

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1667072

Neural dysfunction and neurodegeneration in Drosophila Na+/K+ ATPase alpha subunit mutants.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1667072

Nucleotide variation in the triosephosphate isomerase (Tpi) locus of Drosophila melanogaster and Drosophila simulans.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1667072

Molecular analysis of four ENU induced triosephosphate isomerase null mutants in Mus musculus.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1667072

Myopathy with altered mitochondria due to a triosephosphate isomerase (TPI) deficiency.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1667072

Synaptic physiology and ultrastructure in comatose mutants define an in vivo role for NSF in neurotransmitter release

28 November 2018

1 reference

12 December 2020

Triose phosphate isomerase deficiency in 3 French families: two novel null alleles, a frameshift mutation (TPI Alfortville) and an alteration in the initiation codon (TPI Paris)

1 reference

12 December 2020

Elevated frequency of carriers for triosephosphate isomerase deficiency in newborn infants

1 reference

12 December 2020

Prenatal diagnosis of triosephosphate isomerase deficiency

1 reference

12 December 2020

Diminished Blood Levels of Reduced Glutathione and α-Tocopherol in Two Triosephosphate Isomerase-Deficient Brothers

1 reference

12 December 2020

Evidence for founder effect of the Glu104Asp substitution and identification of new mutations in triosephosphate isomerase deficiency

1 reference

12 December 2020

The mechanism of the triosephosphate isomerase reaction.

1 reference

12 December 2020

Crystallization of yeast triose phosphate isomerase from polyethylene glycol. Protein crystal formation following phase separation

1 reference

12 December 2020

Triosephosphate isomerase deficiency: 2 new cases

1 reference

12 December 2020

Refined 1.83 Å structure of trypanosomal triosephosphate isomerase crystallized in the presence of 2.4 m-ammonium sulphate

1 reference

Crossref

https://api.crossref.org/works/10.1534%2FGENETICS.106.063206

7 January 2021

inferred from DOI database lookup

Triosephosphate isomerase deficiency: a neurodegenerative misfolding disease

1 reference

Crossref

https://api.crossref.org/works/10.1534%2FGENETICS.106.063206

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1534/GENETICS.106.063206

1 reference

4982888

4982888

1 reference

1 reference

1 reference