S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation (Q34379056)

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English	S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation	scientific article

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scholarly article

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Europe PubMed Central

PubMed publication ID

1 August 2017

S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation (English)

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Europe PubMed Central

PubMed publication ID

1 August 2017

primary hyperoxaluria type I

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inferred from title

3

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24990153 AND SRC:MED&resulttype=core&format=json

10 June 2020

Giorgia Mandrile

4

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24990153 AND SRC:MED&resulttype=core&format=json

10 June 2020

Daniela Giachino

5

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10 June 2020

author name string

Riccardo Montioli

1

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10 June 2020

Alessandro Roncador

2

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10 June 2020

Barbara Cellini

6

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10 June 2020

Carla Borri Voltattorni

7

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10 June 2020

publication date

2 July 2014

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1 August 2017

Human Molecular Genetics

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10 June 2020

23

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10 June 2020

22

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10 June 2020

5998-6007

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10 June 2020

describes a project that uses

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11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4204775/fullTextXML

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The Role of Protein Denaturation Energetics and Molecular Chaperones in the Aggregation and Mistargeting of Mutants Causing Primary Hyperoxaluria Type I

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204775

6 July 2018

Crystal structure of the S187F variant of human liver alanine: Aminotransferase associated with primary hyperoxaluria type I and its functional implications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204775

6 July 2018

Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204775

6 July 2018

Molecular insights into primary hyperoxaluria Type I pathogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204775

6 July 2018

Biochemical analyses are instrumental in identifying the impact of mutations on holo and/or apo-forms and on the region(s) of alanine:glyoxylate aminotransferase variants associated with primary hyperoxaluria type I.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204775

6 July 2018

Role of low native state kinetic stability and interaction of partially unfolded states with molecular chaperones in the mitochondrial protein mistargeting associated with primary hyperoxaluria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204775

6 July 2018

Human liver peroxisomal alanine:glyoxylate aminotransferase: Different stability under chemical stress of the major allele, the minor allele, and its pathogenic G170R variant

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204775

6 July 2018

Molecular defects of the glycine 41 variants of alanine glyoxylate aminotransferase associated with primary hyperoxaluria type I

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204775

6 July 2018

Quality control against misfolded proteins in the cytosol: a network for cell survival

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204775

6 July 2018

Primary hyperoxaluria type 1: update and additional mutation analysis 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=4204775

6 July 2018

Molecular Insight into the Synergism between the Minor Allele of Human Liver Peroxisomal Alanine:Glyoxylate Aminotransferase and the F152I Mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204775

6 July 2018

Human wild-type alanine:glyoxylate aminotransferase and its naturally occurring G82E variant: functional properties and physiological implications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204775

6 July 2018

A guided tour into subcellular colocalization analysis in light microscopy

1 reference

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6 July 2018

Primary hyperoxaluria type 1: AGT mistargeting highlights the fundamental differences between the peroxisomal and mitochondrial protein import pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204775

6 July 2018

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

1 reference

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6 July 2018

Molecular aetiology of primary hyperoxaluria and its implications for clinical management

1 reference

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6 July 2018

Crystal structure of alanine:glyoxylate aminotransferase and the relationship between genotype and enzymatic phenotype 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=4204775

6 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=4204775

6 July 2018

Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204775

6 July 2018

An intronic duplication in the alanine: glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with 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=4204775

6 July 2018

Gly161 mutations associated with Primary Hyperoxaluria Type I induce the cytosolic aggregation and the intracellular degradation of the apo-form of alanine:glyoxylate aminotransferase

1 reference

https://api.crossref.org/works/10.1093/HMG/DDU329

21 January 2018

Reconstruction of human hepatocyte glyoxylate metabolic pathways in stably transformed Chinese-hamster ovary cells.

1 reference

https://api.crossref.org/works/10.1093/HMG/DDU329

21 January 2018

Multiple mechanisms of action of pyridoxine in primary hyperoxaluria type 1.

1 reference

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21 January 2018

Treponema denticola cystalysin catalyzes β‐desulfination of L‐cysteine sulfinic acid and β‐decarboxylation of L‐aspartate and oxalacetate

1 reference

https://api.crossref.org/works/10.1093/HMG/DDU329

21 January 2018

Modeling the effect of 3 missense AGXT mutations on dimerization of the AGT enzyme in primary hyperoxaluria type 1.

1 reference

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27 October 2018

Intragenic complementation at the argininosuccinate lyase locus: Reconstruction of the active site

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Heterotetrameric forms of human phenylalanine hydroxylase: Co-expression of wild-type and mutant forms in a bicistronic system

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12 December 2020

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In vitro coexpression and pharmacological rescue of mutant gonadotropin-releasing hormone receptors causing hypogonadotropic hypogonadism in humans expressing compound heterozygous alleles

1 reference

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based on heuristic

inferred from PubMed ID database lookup

Changing pattern of primary hyperoxaluria in Switzerland

1 reference

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Epidemiology of primary hyperoxaluria type 1. Société de Néphrologie and the Société de Néphrologie Pédiatrique

1 reference

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10.1093/HMG/DDU329

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Europe PubMed Central

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10 June 2020

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Europe PubMed Central

PMC publication ID

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10 June 2020

PubMed publication ID

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10 June 2020

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