Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding (Q24296711)

GOA release 2020-03-11

Prolyl 3-hydroxylase 1

1 reference

Cartilage associated protein

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Sergey Leikin

7

0 references

Charles Rotimi

8

object named as

Charles N Rotimi

0 references

author name string

Aileen M Barnes

1

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Erin M Carter

2

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Wayne A Cabral

3

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MaryAnn Weis

4

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Weizhong Chang

5

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Elena Makareeva

6

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David R Eyre

9

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Cathleen L Raggio

10

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Joan C Marini

The New England Journal of Medicine

11

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language of work or name

English

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publication date

11 February 2010

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published in

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volume

362

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issue

6

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page(s)

521-8

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cites work

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CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta

19 March 2017

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Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta

19 March 2017

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Prolyl 3-hydroxylase 1, enzyme characterization and identification of a novel family of enzymes

19 March 2017

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Human cyclophilin B: a second cyclophilin gene encodes a peptidyl-prolyl isomerase with a signal sequence

19 March 2017

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Genetic heterogeneity in osteogenesis imperfecta

19 March 2017

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Homozygosity mapping approach identifies a missense mutation in equine cyclophilin B (PPIB) associated with HERDA in the American Quarter Horse

19 March 2017

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CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta

19 March 2017

1 reference

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The rough endoplasmic reticulum-resident FK506-binding protein FKBP65 is a molecular chaperone that interacts with collagens.

19 March 2017

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Components of the collagen prolyl 3-hydroxylation complex are crucial for normal bone development.

27 September 2017

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Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta

27 September 2017

1 reference

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Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

27 September 2017

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27 September 2017

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Thermal stability and folding of the collagen triple helix and the effects of mutations in osteogenesis imperfecta on the triple helix of type I collagen

27 September 2017

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Hsp47 and cyclophilin B traverse the endoplasmic reticulum with procollagen into pre-Golgi intermediate vesicles. A role for Hsp47 and cyclophilin B in the export of procollagen from the endoplasmic reticulum

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27 September 2017

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Chicken FK506-binding protein, FKBP65, a member of the FKBP family of peptidylprolyl cis-trans isomerases, is only partially inhibited by FK506.

30 May 2018

1 reference

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Cyclosporin A slows collagen triple-helix formation in vivo: indirect evidence for a physiologic role of peptidyl-prolyl cis-trans-isomerase

30 May 2018

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Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation

30 May 2018

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Delayed triple helix formation of mutant collagen from patients with osteogenesis imperfecta.

29 November 2018

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The influence of peptidyl-prolyl cis-trans isomerase on the in vitro folding of type III collagen.

29 November 2018

1 reference

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Folding mechanism of the triple helix in type-III collagen and type-III pN-collagen. Role of disulfide bridges and peptide bond isomerization

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20089953

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Popcorn calcification in osteogenesis imperfecta: incidence, progression, and molecular correlation.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20089953