(Q39970181)

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Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme

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scholarly article

1 reference

Europe PubMed Central

16 September 2017

Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme (English)

1 reference

Europe PubMed Central

16 September 2017

Weill-Marchesani syndrome

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inferred from title

Valérie Cormier-Daire

object named as

Valerie Cormier-Daire

5

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author name string

Wendy E Kutz

1

1 reference

Europe PubMed Central

16 September 2017

Lauren W Wang

2

1 reference

Europe PubMed Central

16 September 2017

Nathalie Dagoneau

3

1 reference

Europe PubMed Central

16 September 2017

Kazimir J Odrcic

4

1 reference

Europe PubMed Central

16 September 2017

Elias I Traboulsi

6

1 reference

Europe PubMed Central

16 September 2017

Suneel S Apte

7

1 reference

Europe PubMed Central

16 September 2017

publication date

1 December 2008

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Europe PubMed Central

16 September 2017

1 reference

Europe PubMed Central

16 September 2017

29

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Europe PubMed Central

16 September 2017

12

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Europe PubMed Central

16 September 2017

1425-1434

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Europe PubMed Central

16 September 2017

A common autoimmunity predisposing signal peptide variant of the cytotoxic T-lymphocyte antigen 4 results in inefficient glycosylation of the susceptibility allele

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20797

7 January 2021

based on heuristic

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A disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motifs: the ADAMTS family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20797

7 January 2021

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Albumin Redhill (-1 Arg, 320 Ala----Thr): a glycoprotein variant of human serum albumin whose precursor has an aberrant signal peptidase cleavage site

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https://api.crossref.org/works/10.1002%2FHUMU.20797

7 January 2021

based on heuristic

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Aberrant signal peptide cleavage of collagen X in Schmid metaphyseal chondrodysplasia. Implications for the molecular basis of the disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20797

7 January 2021

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The molecular basis of coupling of translocation and N-glycosylation

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https://api.crossref.org/works/10.1002%2FHUMU.20797

7 January 2021

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Signal peptidase and oligosaccharyltransferase interact in a sequential and dependent manner within the endoplasmic reticulum

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20797

7 January 2021

based on heuristic

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Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20797

7 January 2021

based on heuristic

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ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20797

7 January 2021

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Antithrombin Dublin (-3 Val----Glu): an N-terminal variant which has an aberrant signal peptidase cleavage site

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https://api.crossref.org/works/10.1002%2FHUMU.20797

7 January 2021

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Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome

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https://api.crossref.org/works/10.1002%2FHUMU.20797

7 January 2021

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In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20797

7 January 2021

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Cotranslational protein folding

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20797

7 January 2021

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Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20797

7 January 2021

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Possible involvement of inefficient cleavage of preprovasopressin by signal peptidase as a cause for familial central diabetes insipidus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20797

7 January 2021

based on heuristic

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Protein folding during cotranslational translocation in the endoplasmic reticulum

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20797

7 January 2021

based on heuristic

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Regulation of procollagen amino-propeptide processing during mouse embryogenesis by specialization of homologous ADAMTS proteases: insights on collagen biosynthesis and dermatosparaxis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20797

7 January 2021

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Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20797

7 January 2021

based on heuristic

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Conformational control through translocational regulation: a new view of secretory and membrane protein folding.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20797

7 January 2021

based on heuristic

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Signal sequences: more than just greasy peptides

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20797

7 January 2021

based on heuristic

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Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20797

7 January 2021

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The Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20797

7 January 2021

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A defect in a novel ADAMTS family member is the cause of the belted white-spotting mutation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20797

7 January 2021

based on heuristic

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Signal sequences initiate the pathway of maturation in the endoplasmic reticulum lumen.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20797

7 January 2021

based on heuristic

inferred from DOI database lookup

A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP-glucuronosyltransferase, an endoplasmic reticulum membrane protein, causes Crigler-Najjar type II.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20797

7 January 2021

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Characterization of ADAMTS-9 and ADAMTS-20 as a distinct ADAMTS subfamily related to Caenorhabditis elegans GON-1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20797

7 January 2021

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Discovery and characterization of a novel, widely expressed metalloprotease, ADAMTS10, and its proteolytic activation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20797

7 January 2021

based on heuristic

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ADAMTS7B, the full-length product of the ADAMTS7 gene, is a chondroitin sulfate proteoglycan containing a mucin domain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20797

7 January 2021

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The signal peptide

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20797

7 January 2021

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O-fucosylation of thrombospondin type 1 repeats in ADAMTS-like-1/punctin-1 regulates secretion: implications for the ADAMTS superfamily

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20797

7 January 2021

based on heuristic

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Identifiers

10.1002/HUMU.20797

1 reference

Europe PubMed Central

16 September 2017

1 reference

Europe PubMed Central

16 September 2017

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