PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome (Q29977759)

25 June 2017

title

PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome (English)

1 reference

Prolyl endopeptidase like

25 June 2017

main subject

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regulation of synaptic vesicle exocytosis

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author name string

Luc Régal

1

1 reference

25 June 2017

Xin-Ming Shen

2

1 reference

25 June 2017

Duygu Selcen

3

1 reference

25 June 2017

Chantal Verhille

4

1 reference

25 June 2017

Sandra Meulemans

5

1 reference

25 June 2017

John W M Creemers

6

1 reference

25 June 2017

Andrew G Engel

7

1 reference

25 June 2017

language of work or name

English

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publication date

7 March 2014

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25 June 2017

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25 June 2017

volume

82

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25 June 2017

issue

14

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25 June 2017

page(s)

1254-1260

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New horizons for congenital myasthenic syndromes

25 June 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001208

Molecular machines governing exocytosis of synaptic vesicles

21 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001208

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

21 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001208

The vesicular acetylcholine transporter interacts with clathrin-associated adaptor complexes AP-1 and AP-2

21 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001208

Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans

21 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001208

Single-axonal organelle analysis method reveals new protein-motor associations

21 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001208

Trans-Golgi network morphology and sorting is regulated by prolyl-oligopeptidase-like protein PREPL and the AP-1 complex subunit μ1A.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001208

Defective presynaptic choline transport underlies hereditary motor neuropathy.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001208

Distinct and overlapping roles for AP-1 and GGAs revealed by the "knocksideways" system

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001208

PREPL: a putative novel oligopeptidase propelled into the limelight

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001208

The 2p21 deletion syndrome: characterization of the transcription content

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001208

The earliest pathologic alterations in dysferlinopathy

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001208

The Investigation of Congenital Myasthenic Syndromesa

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001208

Molecular biology of the vesicular ACh transporter

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001208

Acetylcholinesterase of human erythrocytes and neuromuscular junctions: homologies revealed by monoclonal antibodies

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001208

Synaptic vesicles in electromotoneurones. I. Axonal transport, site of transmitter uptake and processing of a core proteoglycan during maturation.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001208

A new myasthenic syndrome with end-plate acetylcholinesterase deficiency, small nerve terminals, and reduced acetylcholine release

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001208

Guanidine and neuromuscular transmission. II. Effect on transmitter release in response to repetitive nerve stimulation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001208

Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001208

Two novel deletions in hypotonia-cystinuria syndrome.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001208

PREPL, a prolyl endopeptidase-like enzyme by name only?--Lessons from patients.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001208

Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001208

Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001208

Mice deficient for the vesicular acetylcholine transporter are myasthenic and have deficits in object and social recognition

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001208

Congenital myasthenic syndromes: I. Deficiency and short open-time of the acetylcholine receptor.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001208

A quantitative study of end-plate potentials in isolated human muscle

26 November 2018

1 reference

12 December 2020

Ultrastructural localization of the acetylcholine receptor in myasthenia gravis and in its experimental autoimmune model

1 reference

12 December 2020

Congenital myasthenic syndrome associated with paucity of synaptic vesicles and reduced quantal release

1 reference

12 December 2020

Congenital myasthenic syndrome attributed to an abnormal interaction of acetylcholine with its receptor

1 reference

12 December 2020

2p21 Deletions in hypotonia-cystinuria syndrome

1 reference

12 December 2020

10.1212/WNL.0000000000000295

Identifiers

DOI

1 reference

OpenCitations bibliographic resource ID

25 June 2017

4557946

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4557946

1 reference