Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors (Q34462529)

2 August 2017

Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors (English)

1 reference

2 August 2017

1 reference

Hudson H Freeze

8

0 references

author name string

Bobby G Ng

1

1 reference

2 August 2017

Lynne A Wolfe

2

1 reference

2 August 2017

Mie Ichikawa

3

1 reference

2 August 2017

Thomas Markello

4

1 reference

2 August 2017

Miao He

5

1 reference

2 August 2017

Cynthia J Tifft

6

1 reference

2 August 2017

William A Gahl

7

1 reference

2 August 2017

12 February 2015

1 reference

2 August 2017

Human Molecular Genetics

1 reference

2 August 2017

24

1 reference

2 August 2017

3050-3057

1 reference

2 August 2017

11

1 reference

Genome-scale sequencing to identify genes involved in Mendelian disorders

2 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424951

Solving glycosylation disorders: fundamental approaches reveal complicated pathways

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424951

The metabolic origins of mannose in glycoproteins

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424951

Novel role for carbamoyl phosphate synthetase 2 in cranial sensory circuit formation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424951

Quantitative phosphoproteomics reveal mTORC1 activates de novo pyrimidine synthesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424951

Stimulation of de novo pyrimidine synthesis by growth signaling through mTOR and S6K1.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424951

Simultaneous determination of nucleotide sugars with ion-pair reversed-phase HPLC.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424951

Exome sequencing identifies the cause of a mendelian disorder

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424951

Structural model of the R state of Escherichia coli aspartate transcarbamoylase with substrates bound

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424951

Disorders of purine and pyrimidine metabolism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424951

Analysis of the Zebrafish perplexed mutation reveals tissue-specific roles for de novo pyrimidine synthesis during development

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424951

A single amino acid substitution in the active site of Escherichia coli aspartate transcarbamoylase prevents the allosteric transition

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424951

De novo synthesis of pyrimidine nucleotides; emerging interfaces with signal transduction pathways

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424951

Enzymatic synthesis of nucleotide sugars

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424951

Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424951

The isolation and characterization of the aspartate transcarbamylase domain of the multifunctional protein, CAD

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424951

A specific nutritional requirement for pyrimidines in rudimentary mutants of Drosophila melanogaster

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424951

Isolation and characterization of the orotidine 5'-monophosphate decarboxylase domain of the multifunctional protein uridine 5'-monophosphate synthase.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424951

Purification and properties of the bovine liver mitochondrial dihydroorotate dehydrogenase.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424951

Molecular cloning and nucleotide sequence for the complete coding region of human UMP synthase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424951

The dihydroorotase domain of the multifunctional protein CAD. Subunit structure, zinc content, and kinetics.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424951

Mapping of the gene encoding the multifunctional protein carrying out the first three steps of pyrimidine biosynthesis to human chromosome 2.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424951

Mammalian carbamyl phosphate synthetase (CPS). DNA sequence and evolution of the CPS domain of the Syrian hamster multifunctional protein CAD

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424951

Miller syndrome (postaxial acrofacial dysostosis): further evidence for autosomal recessive inheritance and expansion of the phenotype

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424951

Complete hamster CAD protein and the carbamylphosphate synthetase domain of CAD complement mammalian cell mutants defective in de novo pyrimidine biosynthesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424951

Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH.

6 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV057

DUMPS cattle carry a point mutation in the uridine monophosphate synthase gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV057

C. elegans pharyngeal morphogenesis requires both de novo synthesis of pyrimidines and synthesis of heparan sulfate proteoglycans

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV057

Analysis of nucleotide sugars from cell lysates by ion-pair solid-phase extraction and reversed-phase high-performance liquid chromatography

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV057

Cellular Immune Deficiency in Two Siblings with Hereditary Orotic Aciduria

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25678555

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25678555

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDV057

1 reference

release_gyqwk5qoajfudfp3nxhridtxje

2 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/gyqwk5qoajfudfp3nxhridtxje

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMCID

4424951

1 reference

2 August 2017

1 reference