(Q43825198)

English

Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome

scientific article published in July 2008

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

27 November 2017

Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome (English)

1 reference

Europe PubMed Central

PubMed publication ID

27 November 2017

Férechté Encha-Razavi

4

object named as

Férechté Encha-Razavi

1 reference

Europe PubMed Central

PubMed publication ID

27 November 2017

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Anne Philippe

5

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Alexandre Benmerah

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Alexandre Benmerah

9

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Laurence Colleaux

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Laurence Colleaux

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Nathalie Boddaert

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Nathalie Boddaert

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10

object named as

Arnold Munnich

1 reference

Europe PubMed Central

PubMed publication ID

27 November 2017

Isabelle Desguerre

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object named as

Isabelle Desguerre

1 reference

Europe PubMed Central

PubMed publication ID

27 November 2017

6

object named as

Laurence Robel

1 reference

Europe PubMed Central

PubMed publication ID

27 November 2017

Francis Brunelle

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object named as

Francis Brunelle

1 reference

Europe PubMed Central

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27 November 2017

author name string

Guntram Borck

1

1 reference

Europe PubMed Central

PubMed publication ID

27 November 2017

Anahi Mollà-Herman

2

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Europe PubMed Central

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27 November 2017

publication date

1 July 2008

1 reference

Europe PubMed Central

PubMed publication ID

27 November 2017

1 reference

Europe PubMed Central

PubMed publication ID

27 November 2017

29

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27 November 2017

7

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Europe PubMed Central

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27 November 2017

966-974

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Europe PubMed Central

PubMed publication ID

27 November 2017

Distinct and redundant functions of mu1 medium chains of the AP-1 clathrin-associated protein complex in the nematode Caenorhabditis elegans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20531

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20531

21 January 2018

The blood-brain barrier: an overview: structure, regulation, and clinical implications

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20531

7 January 2021

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Neuroimaging studies in the evaluation of developmental delay/mental retardation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20531

7 January 2021

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Tandem MS analysis of brain clathrin-coated vesicles reveals their critical involvement in synaptic vesicle recycling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20531

7 January 2021

based on heuristic

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Genetic analyses of adaptin function from yeast to mammals.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20531

7 January 2021

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Dynamic interaction of HIV-1 Nef with the clathrin-mediated endocytic pathway at the plasma membrane.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20531

7 January 2021

based on heuristic

inferred from DOI database lookup

Regional localization of a nonspecific X-linked mental retardation gene (MRX59) to Xp21.2-p22.2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20531

7 January 2021

based on heuristic

inferred from DOI database lookup

Downregulation of CD4 by human immunodeficiency virus type 1 Nef is dependent on clathrin and involves direct interaction of Nef with the AP2 clathrin adaptor.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20531

7 January 2021

based on heuristic

inferred from DOI database lookup

The gamma/sigma1 and alpha/sigma2 hemicomplexes of clathrin adaptors AP-1 and AP-2 harbor the dileucine recognition site

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20531

7 January 2021

based on heuristic

inferred from DOI database lookup

Polarized dendritic transport and the AP-1 mu1 clathrin adaptor UNC-101 localize odorant receptors to olfactory cilia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20531

7 January 2021

based on heuristic

inferred from DOI database lookup

The polarized epithelia-specific mu 1B-adaptin complements mu 1A-deficiency in fibroblasts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20531

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20531

7 January 2021

based on heuristic

inferred from DOI database lookup

Aicardi-Goutières syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20531

7 January 2021

based on heuristic

inferred from DOI database lookup

EpsinR: an ENTH domain-containing protein that interacts with AP-1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20531

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20531

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20531

7 January 2021

based on heuristic

inferred from DOI database lookup

Role of the endocytic machinery in the sorting of lysosome-associated membrane proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20531

7 January 2021

based on heuristic

inferred from DOI database lookup

The mannose receptor and the cation-dependent form of mannose 6-phosphate receptor have overlapping cellular and subcellular distributions in liver

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20531

7 January 2021

based on heuristic

inferred from DOI database lookup

mu1A-adaptin-deficient mice: lethality, loss of AP-1 binding and rerouting of mannose 6-phosphate receptors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20531

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular genetics of human microcephaly

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20531

7 January 2021

based on heuristic

inferred from DOI database lookup

Differential role for CD23 splice forms in apical to basolateral transcytosis of IgE/allergen complexes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20531

7 January 2021

based on heuristic

inferred from DOI database lookup

Clathrin-mediated endocytosis in AP-2-depleted cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20531

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20531

7 January 2021

based on heuristic

inferred from DOI database lookup

Targeting signals and subunit interactions in coated vesicle adaptor complexes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20531

7 January 2021

based on heuristic

inferred from DOI database lookup

The genetics of mental retardation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20531

7 January 2021

based on heuristic

inferred from DOI database lookup

Adaptable adaptors for coated vesicles

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20531

7 January 2021

based on heuristic

inferred from DOI database lookup

X-linked mental retardation: many genes for a complex disorder

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20531

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20531

7 January 2021

based on heuristic

inferred from DOI database lookup

Basal ganglia calcifications in childhood

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20531

7 January 2021

based on heuristic

inferred from DOI database lookup

Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20531

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification and characterization of novel clathrin adaptor-related proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20531

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20531

7 January 2021

based on heuristic

inferred from DOI database lookup

Different domains of the AP-1 adaptor complex are required for Golgi membrane binding and clathrin recruitment

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20531

7 January 2021

based on heuristic

inferred from DOI database lookup

Syndromic form of X-linked mental retardation with marked hypotonia in early life, severe mental handicap, and difficult adult behavior maps to Xp22.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20531

7 January 2021

based on heuristic

inferred from DOI database lookup

Early embryonic death of mice deficient in gamma-adaptin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20531

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20531

1 reference

Europe PubMed Central

PubMed publication ID

27 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

27 November 2017

ResearchGate publication ID

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