(Q33925885)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24982166%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

title

C-terminal propeptide is required for fibrillin-1 secretion and blocks premature assembly through linkage to domains cbEGF41-43 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24982166%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24982166%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

author name string

Georgia Aspinall

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24982166%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Penny A Handford

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24982166%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

language of work or name

English

0 references

publication date

30 June 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24982166%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

number of pages

6

1 reference

Proceedings of the National Academy of Sciences of the United States of America

inferred from page(s)

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24982166%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

volume

111

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24982166%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

issue

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24982166%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

page(s)

10155-10160

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24982166%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

21 March 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4104899/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4104899

Structure of the Fibrillin-1 N-Terminal Domains Suggests that Heparan Sulfate Regulates the Early Stages of Microfibril Assembly

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4104899

¹H, ¹³C and ¹⁵N assignments of the four N-terminal domains of human fibrillin-1.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4104899

Structural basis of fibrillar collagen trimerization and related genetic disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4104899

From tall to short: the role of TGFβ signaling in growth and its disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4104899

The evolution of extracellular fibrillins and their functional domains

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4104899

TB domain proteins: evolutionary insights into the multifaceted roles of fibrillins and LTBPs

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4104899

Fibrillin assemblies: extracellular determinants of tissue formation and fibrosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4104899

Biophysical characterisation of fibulin-5 proteins associated with disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4104899

In vivo studies of mutant fibrillin-1 microfibrils

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4104899

Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4104899

Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4104899

Fibrillin assembly requires fibronectin.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4104899

Analysis of uromodulin polymerization provides new insights into the mechanisms regulating ZP domain-mediated protein assembly

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4104899

Biogenesis of extracellular microfibrils: Multimerization of the fibrillin-1 C terminus into bead-like structures enables self-assembly

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4104899

A duplicated motif controls assembly of zona pellucida domain proteins

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4104899

Profibrillin‐1 maturation by human dermal fibroblasts: Proteolytic processing and molecular chaperones

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4104899

Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4104899

Fibrillins can co-assemble in fibrils, but fibrillin fibril composition displays cell-specific differences

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4104899

Homo- and heterotypic fibrillin-1 and -2 interactions constitute the basis for the assembly of microfibrils

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4104899

Assembly of epithelial cell fibrillins

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4104899

Interactions of fibrillin-1 with heparin/heparan sulfate, implications for microfibrillar assembly

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4104899

Characterisation of fibrillin-1 cDNA clones in a human fibroblast cell line that assembles microfibrils

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4104899

Carboxy-terminal conversion of profibrillin to fibrillin at a basic site by PACE/furin-like activity required for incorporation in the matrix

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4104899

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4104899

A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4104899

Extraction of extendable beaded structures and their identification as fibrillin-containing extracellular matrix microfibrils

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4104899

Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4104899

Evidence for furin-type activity-mediated C-terminal processing of profibrillin-1 and interference in the processing by certain mutations.

5 July 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1401697111

Heparan sulfate regulates fibrillin-1 N- and C-terminal interactions

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1401697111

Homotypic fibrillin-1 interactions in microfibril assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1401697111

Early fibrillin-1 assembly monitored through a modifiable recombinant cell approach

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1401697111

Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1401697111

Molecular effects of homocysteine on cbEGF domain structure: insights into the pathogenesis of homocystinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1401697111

Truncated profibrillin of a Marfan patient is of apparent similar size as fibrillin: intracellular retention leads to over-N-glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1401697111

Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1401697111

Ca2+-dependent interface formation in fibrillin-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1401697111

Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1401697111

Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4104899

Cellular and molecular studies of Marfan syndrome mutations identify co-operative protein folding in the cbEGF12–13 region of fibrillin-1

29 October 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1401697111

Identification of a novel nonsense mutation in the fibrillin gene (FBN1) using nonisotopic techniques

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24982166

12 December 2020

inferred from PubMed ID database lookup

Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24982166

12 December 2020

inferred from PubMed ID database lookup

Identification of a novel lethal fibrillin-1 gene mutation in a Chinese Marfan family and correlation of 3' fibrillin-1 gene mutations with phenotype

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24982166

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1073/PNAS.1401697111

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24982166%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24982166%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24982166%20AND%20SRC:MED&resulttype=core&format=json