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Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta

PLoS Genetics(2021)10.1371/journal.pgen.1009339Source: DataRank Database

Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta is a research paper published in PLoS Genetics (2021). On theSindex it has a DataRank of 0. It has been cited 24 times.

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Enrichment:Funding (8 grants)OA: goldTopics (74)IDs (PubMed, PMC)Annotations (2)

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Authors (13)

Yoshihiro Ishikawa ORCID,Jan M. Gebauer ORCID,Sergei P. Boudko ORCID,Brecht Guillemyn ORCID,Tim Van Damme ORCID

Live enrichment

PubMed:33524049 PMC:PMC7877763

Research Foundation, Flanders, Belgium

Grant: postdoctoral fellow (12Q5920N)

Research Foundation, Flanders, Belgium

Grant: senior clinical investigator (1842318N)

Ghent University to Anne De Paepe

Grant: Methusalem Grant (BOFMET2015000401)

National Institutes of Health

Grant: R01NS96173

German research Council

Grant: Collaborative research Center SFB829, project B11

NINDS NIH HHS

Grant: R01 NS096173

National Institutes of Health

Grant: 5R01NS096173-03

Genetic and Mechanistic Study of Cerebral Small Vessel Disease

Shriners Hospitals for Children

goldLicense: cc-by

publisherhttps://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1009339&type=printable

publisherhttps://dx.plos.org/10.1371/journal.pgen.1009339

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/7877763

repositoryhttp://hdl.handle.net/1854/LU-8703079

repositoryhttps://doaj.org/article/d344019aa7d94c4093a3bd9e3e2f09b8

Fields of Study

0301 basic medicine03 medical and health sciences

MeSH Terms

Cells, CulturedHumansOsteogenesis ImperfectaCollagen Type IRecombinant ProteinsFatal OutcomeProtein Processing, Post-TranslationalAmino Acid SequenceProtein BindingSequence Homology, Amino AcidMutation, MissenseModels, MolecularChild, PreschoolInfantInfant, NewbornFemaleHSP47 Heat-Shock ProteinsProtein Domains

Keywords

Models, MolecularTRIPLE-HELIXVARIANTSequence HomologyQH426-470Fatal OutcomeModelsMedicine and Health SciencesPROPEPTIDEChildCells, CulturedPediatricMOLECULAR CHAPERONECulturedBiological SciencesOsteogenesis ImperfectaRecombinant ProteinsDEFICIENCYAmino AcidCHAPERONE HSP47Child, PreschoolFemaleResearch ArticleProtein Binding5701.1 Normal biological development and functioningCellsENDOPLASMIC-RETICULUMMutation, Missense610Collagen Type IFKBP65Rare DiseasesProtein DomainsUnderpinning researchGeneticsHumansAmino Acid SequencePreschoolHSP47 Heat-Shock ProteinsProtein ProcessingSequence Homology, Amino AcidRECOGNITIONPost-TranslationalInfant, NewbornMolecularInfantNewbornSHOCK-PROTEIN 47MutationBiochemistry and Cell BiologyMissenseProtein Processing, Post-TranslationalDevelopmental Biology

Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta

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Authors (13)

Funding (8 grants)

Open Access

Topics

Annotations (Europe PMC)