(Q24302592)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16971151%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

title

Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16971151%20AND%20SRC:MED&resulttype=core&format=json

Alanine--glyoxylate and serine--pyruvate aminotransferase

30 December 2019

main subject

1 reference

GOA release 2020-03-11

protein self-association

1 reference

GOA release 2020-03-11

author

Marion Coulter-Mackie

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16971151%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

author name string

Lian Q

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16971151%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

language of work or name

English

0 references

publication date

12 September 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16971151%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

30 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16971151%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

volume

89

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16971151%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

page(s)

349-359

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16971151%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16971151%20AND%20SRC:MED&resulttype=core&format=json

Experimental investigation of protein folding and misfolding

30 December 2019

cites work

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Role of quality control pathways in human diseases involving protein misfolding

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Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders

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Ubiquitination of the peroxisomal targeting signal type 1 receptor, Pex5p, suggests the presence of a quality control mechanism during peroxisomal matrix protein import

7 January 2021

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Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: a mechanism underlying phenylketonuria

7 January 2021

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Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneity

7 January 2021

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

7 January 2021

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An intronic duplication in the alanine: glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with primary hyperoxaluria type 1.

7 January 2021

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

7 January 2021

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Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias.

7 January 2021

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Crystal structure of alanine:glyoxylate aminotransferase and the relationship between genotype and enzymatic phenotype in primary hyperoxaluria type 1

7 January 2021

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7 January 2021

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Primary hyperoxaluria: from gene defects to designer drugs?

7 January 2021

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Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant allele

7 January 2021

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Correction of an enzyme trafficking defect in hereditary kidney stone disease in vitro

7 January 2021

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

7 January 2021

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Instability of the apo form of aromatic L-amino acid decarboxylase in vivo and in vitro: implications for the involvement of the flexible loop that covers the active site

7 January 2021

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Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis

7 January 2021

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Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria

7 January 2021

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Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel

7 January 2021

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The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1.

7 January 2021

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The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in Black Africans

7 January 2021

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7 January 2021

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A glycine-to-glutamate substitution abolishes alanine:glyoxylate aminotransferase catalytic activity in a subset of patients with primary hyperoxaluria type 1

7 January 2021

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Identification of 5 novel mutations in the AGXT gene

7 January 2021

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Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate aminotransferase gene

7 January 2021

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Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene

7 January 2021

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

7 January 2021

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A serine-to-phenylalanine substitution leads to loss of alanine:glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1

7 January 2021

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7 January 2021

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Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

7 January 2021

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Overexpression of human alanine:glyoxylate aminotransferase in Escherichia coli: renaturation from guanidine-HCl and affinity for pyridoxal phosphate co-factor

7 January 2021

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7 January 2021

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7 January 2021

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Inhibition of alanine:glyoxylate aminotransferase 1 dimerization is a prerequisite for its peroxisome-to-mitochondrion mistargeting in primary hyperoxaluria type 1.

7 January 2021

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7 January 2021

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ATP-dependent degradation of a mutant serine: pyruvate/alanine:glyoxylate aminotransferase in a primary hyperoxaluria type 1 case

7 January 2021

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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

7 January 2021

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High-dose vitamin therapy stimulates variant enzymes with decreased coenzyme binding affinity (increased K(m)): relevance to genetic disease and polymorphisms

7 January 2021

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7 January 2021

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inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2006.07.013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16971151%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

1 reference