The adaptor function of TRAPPC2 in mammalian TRAPPs explains TRAPPC2-associated SEDT and TRAPPC9-associated congenital intellectual disability (Q33999487)

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English	The adaptor function of TRAPPC2 in mammalian TRAPPs explains TRAPPC2-associated SEDT and TRAPPC9-associated congenital intellectual disability	scientific article

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11 February 2020

The adaptor function of TRAPPC2 in mammalian TRAPPs explains TRAPPC2-associated SEDT and TRAPPC9-associated congenital intellectual disability (English)

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11 February 2020

congenital disorder

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Trafficking protein particle complex 2

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GOA release 2020-03-11

intellectual disability

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based on heuristic

inferred from title

disability affecting intellectual abilities

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based on heuristic

inferred from title

Julian A. Tanner

6

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Europe PubMed Central

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11 February 2020

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11 February 2020

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Min Zong

1

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11 February 2020

Xing-gang Wu

2

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11 February 2020

Cecilia W L Chan

3

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11 February 2020

Mei Y Choi

4

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11 February 2020

Hsiao Chang Chan

5

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11 February 2020

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15 August 2011

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11 February 2020

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11 February 2020

6

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11 February 2020

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11 February 2020

e23350

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11 February 2020

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Creative Commons Attribution 4.0 International

15 August 2011

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April 2022 Public Data File from Crossref

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0 references

The non-catalytic carboxyl-terminal domain of ARFGAP1 regulates actin cytoskeleton reorganization by antagonizing the activation of Rac1

1 reference

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28 July 2018

Molecular architecture of the TRAPPII complex and implications for vesicle tethering

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28 July 2018

Network organization of the human autophagy system

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28 July 2018

SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1.

1 reference

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28 July 2018

Bovine viral diarrhea virus non-structural protein 5A interacts with NIK- and IKKbeta-binding protein

1 reference

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28 July 2018

Trs85 directs a Ypt1 GEF, TRAPPIII, to the phagophore to promote autophagy

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28 July 2018

Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation

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28 July 2018

Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation

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28 July 2018

A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly

1 reference

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28 July 2018

mTrs130 is a component of a mammalian TRAPPII complex, a Rab1 GEF that binds to COPI-coated vesicles

1 reference

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28 July 2018

TRAPPC2L is a novel, highly conserved TRAPP-interacting protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156116

28 July 2018

Identification of the novel TRAPP associated protein Tca17.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156116

28 July 2018

The TRAPP complex: insights into its architecture and function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156116

28 July 2018

TRAPPI tethers COPII vesicles by binding the coat subunit Sec23.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156116

28 July 2018

The architecture of the multisubunit TRAPP I complex suggests a model for vesicle tethering

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156116

28 July 2018

mBet3p is required for homotypic COPII vesicle tethering in mammalian cells

1 reference

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28 July 2018

Mutants in trs120 disrupt traffic from the early endosome to the late Golgi

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156116

28 July 2018

NIBP, a novel NIK and IKK(beta)-binding protein that enhances NF-(kappa)B activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156116

28 July 2018

Mammalian Bet3 functions as a cytosolic factor participating in transport from the ER to the Golgi apparatus

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156116

28 July 2018

Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400)

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28 July 2018

Genomic amplification and oncogenic properties of the KCNK9 potassium channel gene

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28 July 2018

A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family

1 reference

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28 July 2018

Casein kinase I regulates membrane binding by ARF GAP1.

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28 July 2018

TRAPP I implicated in the specificity of tethering in ER-to-Golgi transport

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156116

28 July 2018

TRAPP stably associates with the Golgi and is required for vesicle docking

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156116

28 July 2018

Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156116

28 July 2018

TRAPP, a highly conserved novel complex on the cis-Golgi that mediates vesicle docking and fusion

1 reference

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28 July 2018

Sequential coupling between COPII and COPI vesicle coats in endoplasmic reticulum to Golgi transport

1 reference

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28 July 2018

TRAPP complexes in membrane traffic: convergence through a common Rab

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21 January 2018

TRAPP stimulates guanine nucleotide exchange on Ypt1p

1 reference

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21 January 2018

Trs85 (Gsg1), a component of the TRAPP complexes, is required for the organization of the preautophagosomal structure during selective autophagy via the Cvt pathway

1 reference

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21 January 2018

X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families

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Loss of the SEDL gene product (Sedlin) causes X-linked spondyloepiphyseal dysplasia tarda: Identification of a molecular defect in a Japanese family

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21 January 2018

Improved packing of poly(ethylenimine)/DNA complexes increases transfection efficiency

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21 January 2018

Trs85 is required for macroautophagy, pexophagy and cytoplasm to vacuole targeting in Yarrowia lipolytica and Saccharomyces cerevisiae

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29 October 2018

Biochemical consequences of sedlin mutations that cause spondyloepiphyseal dysplasia tarda

1 reference

https://pubmed.ncbi.nlm.nih.gov/21858081

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda

1 reference

https://pubmed.ncbi.nlm.nih.gov/21858081

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked spondyloepiphyseal dysplasia tarda: a novel SEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations

1 reference

https://pubmed.ncbi.nlm.nih.gov/21858081

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1371/JOURNAL.PONE.0023350

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21858081%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

2011PLoSO...623350Z

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11 February 2020

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11 February 2020

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