(Q28277017)

English

Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship

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scholarly article

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Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship (English)

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paroxysmal extreme pain disorder

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based on heuristic

inferred from title

prolidase deficiency

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author name string

Anna Lupi

1

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Antonio De Riso

2

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Sara Della Torre

3

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Antonio Rossi

4

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Elena Campari

5

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Laura Vilarinho

6

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Giuseppe Cetta

7

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Antonella Forlino

8

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language of work or name

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publication date

2004

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Journal of Human Genetics

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49

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9

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500-6

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Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts

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https://pubmed.ncbi.nlm.nih.gov/15309682

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular defect in siblings with prolidase deficiency and absence or presence of clinical symptoms. A 0.8-kb deletion with breakpoints at the short, direct repeat in the PEPD gene and synthesis of abnormal messenger RNA and inactive polypeptide

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https://pubmed.ncbi.nlm.nih.gov/15309682

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mechanisms of mRNA surveillance in eukaryotes

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https://pubmed.ncbi.nlm.nih.gov/15309682

12 December 2020

based on heuristic

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A splicing-dependent regulatory mechanism that detects translation signals

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https://pubmed.ncbi.nlm.nih.gov/15309682

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hydrolysis of picolinylprolines by prolidase. A general mechanism for the dual-metal ion containing aminopeptidases

1 reference

https://pubmed.ncbi.nlm.nih.gov/15309682

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defects in RNA splicing and the consequence of shortened translational reading frames

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https://pubmed.ncbi.nlm.nih.gov/15309682

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural organization of the gene for human prolidase (peptidase D) and demonstration of a partial gene deletion in a patient with prolidase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/15309682

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure of the cobalt-dependent methionine aminopeptidase from Escherichia coli: a new type of proteolytic enzyme

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https://pubmed.ncbi.nlm.nih.gov/15309682

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel nonsense mutation of the PEPD gene in a Japanese patient with prolidase deficiency

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https://pubmed.ncbi.nlm.nih.gov/15309682

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mild, late-onset prolidase deficiency: another Italian case

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https://pubmed.ncbi.nlm.nih.gov/15309682

12 December 2020

based on heuristic

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Expression and molecular analysis of mutations in prolidase deficiency

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https://pubmed.ncbi.nlm.nih.gov/15309682

12 December 2020

based on heuristic

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Sequence and structure comparison suggest that methionine aminopeptidase, prolidase, aminopeptidase P, and creatinase share a common fold

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https://pubmed.ncbi.nlm.nih.gov/15309682

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of prolidase I and II from erythrocytes of a control, a patient with prolidase deficiency and her mother

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https://pubmed.ncbi.nlm.nih.gov/15309682

12 December 2020

based on heuristic

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Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene

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https://pubmed.ncbi.nlm.nih.gov/15309682

12 December 2020

based on heuristic

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Abnormal mRNA and inactive polypeptide in a patient with prolidase deficiency

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https://pubmed.ncbi.nlm.nih.gov/15309682

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primary structure and gene localization of human prolidase

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https://pubmed.ncbi.nlm.nih.gov/15309682

12 December 2020

based on heuristic

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Activation and inhibition of cerebral prolidase

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https://pubmed.ncbi.nlm.nih.gov/15309682

12 December 2020

based on heuristic

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Prolidase and prolidase deficiency

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https://pubmed.ncbi.nlm.nih.gov/15309682

12 December 2020

based on heuristic

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Nonsense-mediated mRNA decay in health and disease

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https://pubmed.ncbi.nlm.nih.gov/15309682

12 December 2020

based on heuristic

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Prolidase deficiency with hyperimmunoglobulin E: a case report

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https://pubmed.ncbi.nlm.nih.gov/15309682

12 December 2020

based on heuristic

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DNA sequencing with chain-terminating inhibitors

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https://pubmed.ncbi.nlm.nih.gov/15309682

12 December 2020

based on heuristic

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Photometric estimation of proline and ornithine

1 reference

https://pubmed.ncbi.nlm.nih.gov/15309682

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Optimization of a capillary electrophoretic method to detect and quantify the Gly-Pro dipeptide in complex matrices from long term cultured prolidase deficiency fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/15309682

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure of the prolidase from Pyrococcus furiosus

1 reference

https://pubmed.ncbi.nlm.nih.gov/15309682

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Optimal conditions for prolidase assay by proline colorimetric determination: application to iminodipeptiduria

1 reference

https://pubmed.ncbi.nlm.nih.gov/15309682

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Proline recycling during collagen metabolism as determined by concurrent 18O2- and 3H-labeling

1 reference

https://pubmed.ncbi.nlm.nih.gov/15309682

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10038-004-0180-1

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