Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta (Q24295351)

negative regulation of post-translational protein modification

GOA release 2020-03-11

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GOA release 2020-03-11

metabolic bone disease

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Sergey Leikin

4

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author name string

Wayne A Cabral

1

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Weizhong Chang

2

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Aileen M Barnes

3

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MaryAnn Weis

4

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Melissa A Scott

5

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Elena Makareeva

7

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Natalia V Kuznetsova

8

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Kenneth N Rosenbaum

9

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Cynthia J Tifft

10

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Dorothy I Bulas

11

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Chahira Kozma

12

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Peter A Smith

13

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David R Eyre

14

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Joan C Marini

Molecular characterization of a novel basement membrane-associated proteoglycan, leprecan

15

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language of work or name

English

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publication date

March 2007

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published in

Nature Genetics

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volume

39

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issue

3

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page(s)

359-65

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cites work

1 reference

Gros1, a potential growth suppressor on chromosome 1: its identity to basement membrane-associated proteoglycan, leprecan

20 April 2017

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

20 April 2017

1 reference

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

20 April 2017

1 reference

LEPREL1, a novel ER and Golgi resident member of the Leprecan family

20 April 2017

1 reference

The third activity for lysyl hydroxylase 3: galactosylation of hydroxylysyl residues in collagens in vitro.

20 April 2017

1 reference

Collagens, modifying enzymes and their mutations in humans, flies and worms

20 April 2017

1 reference

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

21 January 2018

1 reference

The covalent structure of collagen. Amino-acid sequence of peptide 1-CB6-C2.

21 January 2018

1 reference

Partial purification and characterization of chick-embryo prolyl 3-hydroxylase

21 January 2018

1 reference

cDNA cloning, characterization and chromosome mapping of the gene encoding human cartilage associated protein (CRTAP).

21 January 2018

1 reference

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta

21 January 2018

1 reference

A strategy for disease gene identification through nonsense-mediated mRNA decay inhibition

21 January 2018

1 reference

Effect of 3-hydroxyproline residues on collagen stability

21 January 2018

1 reference

Failure of highly purified lysyl hydroxylase to hydroxylate lysyl residues in the non-helical regions of collagen

21 January 2018

1 reference

Type I collagen triplet duplication mutation in lethal osteogenesis imperfecta shifts register of alpha chains throughout the helix and disrupts incorporation of mutant helices into fibrils and extracellular matrix

21 January 2018

1 reference

Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease

21 January 2018

1 reference

12 December 2020

Phenotypic Comparison of an Osteogenesis Imperfecta Type IV Proband with ade Novoα2(I) Gly922 → Ser Substitution in Type I Collagen and an Unrelated Patient with an Identical Mutation

1 reference

12 December 2020

The peptides acetyl-(Gly-3(S)Hyp-4(R)Hyp)10-NH2 and acetyl-(Gly-Pro-3(S)Hyp)10-NH2 do not form a collagen triple helix.

1 reference

12 December 2020

Homozygous osteogenesis imperfecta unlinked to collagen I genes

1 reference

12 December 2020

Osteogenesis imperfecta type VII maps to the short arm of chromosome 3

1 reference

12 December 2020

Temperature-induced post-translational over-modification of type I procollagen. Effects of over-modification of the protein on the rate of cleavage by procollagen N-proteinase and on self-assembly of collagen into fibrils

1 reference

12 December 2020

Functional diversity of lysyl hydroxylase 2 in collagen synthesis of human dermal fibroblasts

1 reference

12 December 2020

Genetic heterogeneity in osteogenesis imperfecta

1 reference

12 December 2020

Structure and biosynthesis of basement membranes

1 reference

12 December 2020

The crystal structure of a collagen-like polypeptide with 3(S)-hydroxyproline residues in the Xaa position forms a standard 7/2 collagen triple helix

1 reference

12 December 2020

Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible

1 reference

12 December 2020

Identifiers

DOI

10.1038/NG1968

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Consolidated OpenCitations Corpus – April 2017

Dimensions Publication ID

2058410

1030986823

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Fatcat ID

release_mle3ryeif5fyvashdmr3gg5eri

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2058410

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

0 references

1 reference