(Q24671223)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503454%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

title

Human triosephosphate isomerase deficiency resulting from mutation of Phe-240 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503454%20AND%20SRC:MED&resulttype=core&format=json

triosephosphate isomerase deficiency

13 October 2019

main subject

1 reference

Chang ML

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503454%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

Artymiuk PJ

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503454%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

Wu X

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503454%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

Hollán S

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503454%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

Lammi A

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503454%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

Maquat LE

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503454%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

language of work or name

English

0 references

publication date

1 June 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503454%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

13 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503454%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

volume

52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503454%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

page(s)

1260-1269

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503454%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503454%20AND%20SRC:MED&resulttype=core&format=json

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

13 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682273

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=1682273

Structure of yeast triosephosphate isomerase at 1.9-A resolution

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682273

The adaptability of the active site of trypanosomal triosephosphate isomerase as observed in the crystal structures of three different complexes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682273

Atomic coordinates for triose phosphate isomerase from chicken muscle

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682273

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682273

Detection of specific sequences among DNA fragments separated by gel electrophoresis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682273

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=1682273

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=1682273

Proton diffusion in the active site of 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=1682273

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=1682273

An analysis of the structure of triose phosphate isomerase and its comparison with lactate dehydrogenase

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682273

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=1682273

Nonsense codons can reduce the abundance of nuclear mRNA without affecting the abundance of pre-mRNA or the half-life of cytoplasmic mRNA.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682273

Glucosephosphate and triosephosphate isomerases: significance of isozyme structural differences in evolution, physiology, and aging

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682273

Nucleotide sequence of the triose phosphate isomerase gene of Saccharomyces cerevisiae.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682273

Chicken triosephosphate isomerase complements an Escherichia coli 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=1682273

Structure determination of the glycosomal triosephosphate isomerase from Trypanosoma brucei brucei at 2.4 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=1682273

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=1682273

Translation to near the distal end of the penultimate exon is required for normal levels of spliced triosephosphate isomerase mRNA.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682273

Red cell enzymopathies of the glycolytic pathway

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682273

Human triosephosphate isomerase: substitution of Arg for Gly at position 122 in a thermolabile electromorph variant, TPI-Manchester

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682273

Hereditary deficiency of triosephosphate isomerase in four unrelated families

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682273

Nucleotide sequence of the triose phosphate isomerase gene of Escherichia coli

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682273

Triose phosphate isomerase from the coelacanth. An approach to the rapid determination of an amino acid sequence with small amounts of material

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682273

Studies on the subunit structure and amino acid sequence of trisoe phosphate isomerase from chicken breast muscle

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682273

Triose phosphate isomerase deficiency: report of a family.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682273

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=1682273

Triosephosphate isomerase: energetics of the reaction catalyzed by the yeast enzyme expressed in Escherichia coli

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682273

Characterization of the transcription unit and two processed pseudogenes of chimpanzee triosephosphate isomerase (TPI).

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682273

Triosephosphate isomerase deficiency. A case report with neuropathological findings.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682273

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=1682273

Congenital hemolytic anemia due to triosephosphate isomerase deficiency

28 November 2018

1 reference

12 December 2020

A precursor of globin messenger RNA

1 reference

12 December 2020

Triose phosphate isomerase deficiency

1 reference

12 December 2020

Triosephosphate isomerase deficiency with hemolytic anemia and severe neuromuscular disease: familial and biochemical studies of a case found in Spain

1 reference

12 December 2020

Primary structure of triosephosphate isomerase from Bacillus stearothermophilus

1 reference

12 December 2020

Elevated frequency of carriers for triosephosphate isomerase deficiency in newborn infants

1 reference

12 December 2020

Triosephosphate isomerase deficiency: 2 new cases

1 reference

12 December 2020

Hereditary triose phosphate isomerase deficiency: seven new homozygous cases

1 reference

12 December 2020

Identifiers

4982916

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

4982916

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503454%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

2 references

Consolidated OpenCitations Corpus – April 2017

4982916