Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase (Q35163511)

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English	Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase	scientific article

Statements

scholarly article

1 reference

Europe PubMed Central

6 August 2017

Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase (English)

1 reference

Europe PubMed Central

6 August 2017

primary hyperoxaluria

1 reference

based on heuristic

inferred from title

primary hyperoxaluria type I

1 reference

based on heuristic

inferred from title

author name string

Santana A

1

1 reference

Europe PubMed Central

6 August 2017

Salido E

2

1 reference

Europe PubMed Central

6 August 2017

Torres A

3

1 reference

Europe PubMed Central

6 August 2017

Shapiro LJ

4

1 reference

Europe PubMed Central

6 August 2017

language of work or name

0 references

publication date

30 May 2003

1 reference

Europe PubMed Central

6 August 2017

Proceedings of the National Academy of Sciences of the United States of America

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Europe PubMed Central

6 August 2017

100

1 reference

Europe PubMed Central

6 August 2017

7277-7282

1 reference

Europe PubMed Central

6 August 2017

12

1 reference

Europe PubMed Central

6 August 2017

Peroxisomal protein import. the paradigm shifts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165866

28 July 2018

Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165866

28 July 2018

Protein folding in vivo: the importance of molecular chaperones

1 reference

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28 July 2018

Chemical chaperones mediate increased secretion of mutant alpha 1-antitrypsin (alpha 1-AT) Z: A potential pharmacological strategy for prevention of liver injury and emphysema in alpha 1-AT deficiency

1 reference

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Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones

1 reference

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Protein self-organization in vitro and in vivo: partitioning between physical biochemistry and cell biology

1 reference

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28 July 2018

Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165866

28 July 2018

Correcting temperature-sensitive protein folding defects

1 reference

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28 July 2018

Mammalian alanine/glyoxylate aminotransferase 1 is imported into peroxisomes via the PTS1 translocation pathway. Increased degeneracy and context specificity of the mammalian PTS1 motif and implications for the peroxisome-to-mitochondrion mistargeti

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165866

28 July 2018

Human peroxisomal L-alanine: glyoxylate aminotransferase. Evolutionary loss of a mitochondrial targeting signal by point mutation of the initiation codon

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165866

28 July 2018

Cloning and nucleotide sequence of cDNA encoding human liver serine-pyruvate aminotransferase

1 reference

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28 July 2018

Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165866

28 July 2018

Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165866

28 July 2018

Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165866

28 July 2018

Post-translational disruption of the delta F508 cystic fibrosis transmembrane conductance regulator (CFTR)-molecular chaperone complex with geldanamycin stabilizes delta F508 CFTR in the rabbit reticulocyte lysate.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165866

27 September 2018

Membrane filter assay for detection of amyloid-like polyglutamine-containing protein aggregates.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165866

27 September 2018

Protein misfolding and degradation in genetic diseases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=165866

27 September 2018

Peroxisomal localization of alanine: Glyoxylate aminotransferase in human liver

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1131968100

21 January 2018

A semiautomated alanine:glyoxylate aminotransferase assay for the tissue diagnosis of primary hyperoxaluria type 1

1 reference

https://pubmed.ncbi.nlm.nih.gov/12777626

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primary hyperoxaluria type 1: diagnostic relevance of mutations and polymorphisms in the alanine:glyoxylate aminotransferase gene (AGXT)

1 reference

https://pubmed.ncbi.nlm.nih.gov/12777626

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Protein folding and assembly in a cell-free expression system

1 reference

https://pubmed.ncbi.nlm.nih.gov/12777626

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Accelerated transport and maturation of lysosomal α–galactosidase A in Fabry lymphoblasts by an enzyme inhibitor

1 reference

https://pubmed.ncbi.nlm.nih.gov/12777626

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transplantation strategies in type 1 primary hyperoxaluria: the issue of pyridoxine responsiveness

1 reference

https://pubmed.ncbi.nlm.nih.gov/12777626

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1073/PNAS.1131968100

1 reference

Europe PubMed Central

6 August 2017

2003PNAS..100.7277S

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1 reference

Europe PubMed Central

6 August 2017

1 reference

Europe PubMed Central

6 August 2017

ResearchGate publication ID

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