(Q27639734)

spondyloepiphyseal dysplasia tarda

GOA release 2020-03-11

genetic disease

1 reference

based on heuristic

inferred from title

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4

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author name string

Se Bok Jang

1

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Yeon-Gil Kim

2

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Yong-Soon Cho

3

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Kyung-Hwa Kim

5

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Byung-Ha Oh

Journal of Biological Chemistry

6

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language of work or name

English

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publication date

20 December 2002

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published in

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volume

277

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page(s)

49863-9

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issue

51

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cites work

Membrane fusion and exocytosis

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207436200

Crystal structure of a SNARE complex involved in synaptic exocytosis at 2.4 A resolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207436200

SNAREpins: minimal machinery for membrane fusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207436200

SNARE complex formation is triggered by Ca2+ and drives membrane fusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207436200

Membrane transport: tethers and TRAPPs

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207436200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207436200

A rab protein is required for the assembly of SNARE complexes in the docking of transport vesicles

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207436200

Identification and characterization of five new subunits of TRAPP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207436200

The TRAPP complex is a nucleotide exchanger for Ypt1 and Ypt31/32.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207436200

X linked spondyloepiphyseal dysplasia: a clinical, radiological, and molecular study of a large kindred

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207436200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207436200

The molecular basis of X-linked spondyloepiphyseal dysplasia tarda

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207436200

A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207436200

Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207436200

A novel 16-kilodalton cellular protein physically interacts with and antagonizes the functional activity of c-myc promoter-binding protein 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207436200

Cloning and characterization of a human c-myc promoter-binding protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207436200

Ykt6p, a prenylated SNARE essential for endoplasmic reticulum-Golgi transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207436200

Ykt6 forms a SNARE complex with syntaxin 5, GS28, and Bet1 and participates in a late stage in endoplasmic reticulum-Golgi transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207436200

An autoinhibitory mechanism for nonsyntaxin SNARE proteins revealed by the structure of Ykt6p

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207436200

Protein interactions regulating vesicle transport between the endoplasmic reticulum and Golgi apparatus in mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207436200

Subunit structure of a mammalian ER/Golgi SNARE complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207436200

Role of tetanus neurotoxin insensitive vesicle-associated membrane protein (TI-VAMP) in vesicular transport mediating neurite outgrowth.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207436200

Maximum-likelihood density modification

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207436200

Improved methods for building protein models in electron density maps and the location of errors in these models

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207436200

Crystallography & NMR System: A New Software Suite for Macromolecular Structure Determination

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207436200

A conformational switch in syntaxin during exocytosis: role of munc18.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207436200

Interactions within the yeast t-SNARE Sso1p that control SNARE complex assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207436200

Regulation of SNARE complex assembly by an N-terminal domain of the t-SNARE Sso1p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207436200

Vam3p structure reveals conserved and divergent properties of syntaxins

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207436200

A novel snare N-terminal domain revealed by the crystal structure of Sec22b

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207436200

Toward a protein-protein interaction map of the budding yeast: A comprehensive system to examine two-hybrid interactions in all possible combinations between the yeast proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207436200

BET3 encodes a novel hydrophilic protein that acts in conjunction with yeast SNAREs

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207436200

Hydrophobicity of amino acid residues in globular proteins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207436200

Ypt1p implicated in v-SNARE activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M207436200