Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord (Q21092468)

15 August 2022

11

Patrick Cossette

Patrick

Cossette

1 reference

15 August 2022

10

Pierre

Drapeau

Pierre Drapeau

1 reference

15 August 2022

9

Thomas J

Hudson

Thomas J Hudson

1 reference

15 August 2022

8

Régen Drouin

Régen

Drouin

1 reference

15 August 2022

4

Christian A Drouin

Christian A

Drouin

1 reference

15 August 2022

Stéphanie Côté

2

Stéphanie

Côté

1 reference

15 August 2022

Edna Brustein

3

Edna

Brustein

1 reference

15 August 2022

Line Lapointe

5

Line

Lapointe

1 reference

15 August 2022

Michèle Boudreau

6

Michèle

Boudreau

1 reference

15 August 2022

Caroline Meloche

7

Caroline

Meloche

1 reference

Creative Commons Attribution 4.0 International

15 August 2022

language of work or name

English

0 references

publication date

December 2008

0 references

published in

PLOS Genetics

0 references

volume

4

0 references

issue

12

0 references

page(s)

e1000296

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copyright license

start time

5 December 2008

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma

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Recognition of dileucine-based sorting signals from HIV-1 Nef and LIMP-II by the AP-1 gamma-sigma1 and AP-3 delta-sigma3 hemicomplexes

19 March 2017

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Adaptins: the final recount

19 March 2017

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Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis

19 March 2017

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HuD, a paraneoplastic encephalomyelitis antigen, contains RNA-binding domains and is homologous to Elav and Sex-lethal

19 March 2017

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Molecular architecture and functional model of the endocytic AP2 complex

19 March 2017

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A novel motor, KIF13A, transports mannose-6-phosphate receptor to plasma membrane through direct interaction with AP-1 complex

19 March 2017

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The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3

19 March 2017

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Requirement for the homeobox gene Hb9 in the consolidation of motor neuron identity

19 March 2017

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Mutation in AP-3 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles

19 March 2017

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

19 March 2017

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ADP-ribosylation factor 1 transiently activates high-affinity adaptor protein complex AP-1 binding sites on Golgi membranes

19 March 2017

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Effective targeted gene 'knockdown' in zebrafish

19 March 2017

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Adaptable adaptors for coated vesicles

7 April 2017

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The mechanisms of vesicle budding and fusion

7 April 2017

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Molecular determinants for the interaction between AMPA receptors and the clathrin adaptor complex AP-2.

7 April 2017

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Protein sorting in the synaptic vesicle life cycle

12 September 2017

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Loss of AP-3 function affects spontaneous and evoked release at hippocampal mossy fiber synapses

12 September 2017

1 reference

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Physiological roles of clathrin adaptor AP complexes: lessons from mutant animals

12 September 2017

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Sorting of Pmel17 to melanosomes through the plasma membrane by AP1 and AP2: evidence for the polarized nature of melanocytes.

12 September 2017

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The building blocks for basolateral vesicles in polarized epithelial cells.

12 September 2017

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Molecular motors and mechanisms of directional transport in neurons

12 September 2017

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Defective function of GABA-containing synaptic vesicles in mice lacking the AP-3B clathrin adaptor.

12 September 2017

1 reference

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Adaptors for clathrin coats: structure and function.

12 September 2017

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The ins and outs of E-cadherin trafficking

12 September 2017

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Adaptor protein complexes as the key regulators of protein sorting in the post-Golgi network

12 September 2017

1 reference

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The AP-1A and AP-1B clathrin adaptor complexes define biochemically and functionally distinct membrane domains

12 September 2017

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Interaction of synaptophysin with the AP-1 adaptor protein gamma-adaptin

12 September 2017

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Hermansky-Pudlak syndrome: vesicle formation from yeast to man.

12 September 2017

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Mouse models of Charcot-Marie-Tooth disease.

12 September 2017

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The epithelial-specific adaptor AP1B mediates post-endocytic recycling to the basolateral membrane.

12 September 2017

1 reference

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Extracellular matrix and keratinocyte migration.

12 September 2017

1 reference

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Synaptic drive to motoneurons during fictive swimming in the developing zebrafish

12 September 2017

1 reference

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Biochemical identification and tissue-specific expression patterns of keratins in the zebrafish Danio rerio

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2585812

Clathrin is a key regulator of basolateral polarity.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2585812

PAX2 is expressed in multiple spinal cord interneurons, including a population of EN1+ interneurons that require PAX6 for their development.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2585812

Cytokeratin 8 is a suitable epidermal marker during zebrafish development.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2585812

An atypical form of erythrokeratodermia variabilis maps to chromosome 7q22.

30 May 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000296

A dominant-negative form of p63 is required for epidermal proliferation in zebrafish.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000296

Time course of the development of motor behaviors in the zebrafish embryo

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000296

Inactivation of serine protease Matriptase1a by its inhibitor Hai1 is required for epithelial integrity of the zebrafish epidermis

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000296

Laminin alpha5 is essential for the formation of the zebrafish fins

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000296

Clathrin adaptor AP2 and NSF interact with overlapping sites of GluR2 and play distinct roles in AMPA receptor trafficking and hippocampal LTD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000296

Neural crest survival and differentiation in zebrafish depends on mont blanc/tfap2a gene function

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000296

Clathrin-associated adaptor protein complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000296

Neural degeneration mutants in the zebrafish, Danio rerio.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2585812

10.1371/JOURNAL.PGEN.1000296

29 November 2018

Identifiers

DOI

1 reference

1 reference

1 reference

1 reference