Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome (Q24540504)

6 July 2017

title

Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome (English)

1 reference

hypotonia-cystinuria syndrome

6 July 2017

main subject

1 reference

9

Etienne Waelkens

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Rita Derua

6

object named as

Rita Derua

1 reference

6 July 2017

Jaak Jaeken

1

1 reference

6 July 2017

Kevin Martens

2

1 reference

6 July 2017

Inge Francois

3

1 reference

6 July 2017

Francois Eyskens

4

1 reference

6 July 2017

Claudine Lecointre

5

1 reference

6 July 2017

Sandra Meulemans

7

1 reference

6 July 2017

Jerry W Slootstra

8

1 reference

6 July 2017

Francis de Zegher

10

1 reference

6 July 2017

John W M Creemers

11

1 reference

6 July 2017

Gert Matthijs

12

1 reference

6 July 2017

language of work or name

English

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publication date

23 November 2005

1 reference

American Journal of Human Genetics

6 July 2017

published in

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6 July 2017

volume

78

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6 July 2017

issue

1

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6 July 2017

page(s)

38-51

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A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease

6 July 2017

cites work

1 reference

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Catalysis of serine oligopeptidases is controlled by a gating filter mechanism

24 March 2017

1 reference

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Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine

24 March 2017

1 reference

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Prolyl oligopeptidase: an unusual beta-propeller domain regulates proteolysis

24 March 2017

1 reference

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Binding of BiP to the processing enzyme lymphoma proprotein convertase prevents aggregation, but slows down maturation

24 March 2017

1 reference

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Alpha/beta hydrolase fold enzymes: the family keeps growing

24 March 2017

1 reference

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Alterations in plasma prolyl endopeptidase activity in depression, mania, and schizophrenia: effects of antidepressants, mood stabilizers, and antipsychotic drugs

24 March 2017

1 reference

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The alpha/beta hydrolase fold

24 March 2017

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The 2p21 deletion syndrome: characterization of the transcription content

24 March 2017

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New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype

27 September 2017

1 reference

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Using peptide libraries to identify optimal cleavage motifs for proteolytic enzymes

27 September 2017

1 reference

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HUGE: a database for human KIAA proteins, a 2004 update integrating HUGEppi and ROUGE.

27 September 2017

1 reference

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Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency

27 September 2017

1 reference

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Discovering potent and selective reversible inhibitors of enzymes in complex proteomes

27 September 2017

1 reference

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Modulation of inositol 1,4,5-triphosphate concentration by prolyl endopeptidase inhibition

27 September 2017

1 reference

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Substrate recognition properties of oligopeptidase B from Salmonella enterica serovar Typhimurium

27 September 2017

1 reference

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A common mechanism of action for three mood-stabilizing drugs

27 September 2017

1 reference

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The prolyl oligopeptidase family

27 September 2017

1 reference

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Determination of protease cleavage site motifs using mixture-based oriented peptide libraries

27 September 2017

1 reference

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Minireview: the glucagon-like peptides

27 September 2017

1 reference

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Dual role of signaling pathways leading to Ca(2+) and cyclic AMP elevation in host cell invasion by Trypanosoma cruzi

27 September 2017

1 reference

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Substrate- and pH-dependent contribution of oxyanion binding site to the catalysis of prolyl oligopeptidase, a paradigm of the serine oligopeptidase family

27 September 2017

1 reference

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Activity-based protein profiling: the serine hydrolases

27 September 2017

1 reference

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Oligopeptidase B-dependent signaling mediates host cell invasion by Trypanosoma cruzi

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380222

Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis

27 September 2017

1 reference

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A cytosolic serine endopeptidase from Trypanosoma cruzi is required for the generation of Ca2+ signaling in mammalian cells

27 September 2017

1 reference

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Families of serine peptidases.

27 September 2017

1 reference

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Mapping the active site of papain with the aid of peptide substrates and inhibitors

27 September 2017

1 reference

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Identification of a transferable sorting domain for the regulated pathway in the prohormone convertase PC2.

27 September 2017

1 reference

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Loss of a prolyl oligopeptidase confers resistance to lithium by elevation of inositol (1,4,5) trisphosphate.

27 September 2017

1 reference

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Molecular genetics of cystinuria: mutation analysis of SLC3A1 and evidence for another gene in type I (silent) phenotype

30 May 2018

1 reference

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Deficiency of acylpeptide hydrolase in small-cell lung carcinoma cell lines

30 May 2018

1 reference

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Unclosed beta-propellers display stable structures: implications for substrate access to the active site of prolyl oligopeptidase

30 May 2018

1 reference

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Limited redundancy of the proprotein convertase furin in mouse liver

29 November 2018

1 reference

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A sporadic case of cystinuria, respiratory chain and growth hormone deficiencies.

29 November 2018

1 reference

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Reduced postprandial concentrations of intact biologically active glucagon-like peptide 1 in type 2 diabetic patients.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380222

Lower serum prolyl endopeptidase enzyme activity in major depression: further evidence that peptidases play a role in the pathophysiology of depression

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380222

Detection of two novel large deletions in SLC3A1 by semi-quantitative fluorescent multiplex PCR

29 November 2018

1 reference

12 December 2020

Post-proline cleaving enzyme. Synthesis of a new fluorogenic substrate and distribution of the endopeptidase in rat tissues and body fluids of man

1 reference

12 December 2020

Construction of a 3D model of oligopeptidase B, a potential processing enzyme in prokaryotes

1 reference

12 December 2020

The molecular basis of cystinuria: an update

1 reference

12 December 2020

Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism

1 reference

12 December 2020

Familial aminoaciduria with muscular hypotonia and dwarfism

1 reference

12 December 2020

Prolyl Oligopeptidase

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F498852

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/498852

1 reference

6 July 2017

1 reference

6 July 2017

1 reference