Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis. (Q33843319)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10074491%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

title

Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis (English)

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11 November 2019

6

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R J Desnick

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11 November 2019

author name string

W S Hou

1

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11 November 2019

D Brömme

2

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11 November 2019

Y Zhao

3

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11 November 2019

E Mehler

4

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11 November 2019

C Dushey

5

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11 November 2019

C S Miranda

7

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11 November 2019

C Fraga

8

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11 November 2019

F Greig

9

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11 November 2019

J Carey

10

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11 November 2019

D L Rimoin

11

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11 November 2019

B D Gelb

13

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11 November 2019

language of work or name

English

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publication date

1 March 1999

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Journal of Clinical Investigation

11 November 2019

published in

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11 November 2019

volume

103

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11 November 2019

issue

5

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11 November 2019

page(s)

731-738

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11 November 2019

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Histone-like TAFs within the PCAF histone acetylase complex

5 July 2018

1 reference

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A strategy for rapid, high-confidence protein identification

5 July 2018

1 reference

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Autocatalytic activation of human cathepsin K.

5 July 2018

1 reference

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Structure and chromosomal assignment of the human cathepsin K gene

5 July 2018

1 reference

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Expression of human cathepsin K in Pichia pastoris and preliminary crystallographic studies of an inhibitor complex

5 July 2018

1 reference

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Crystal structure of human cathepsin K complexed with a potent inhibitor

5 July 2018

1 reference

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Cathepsin K: isolation and characterization of the murine cDNA and genomic sequence, the homologue of the human pycnodysostosis gene

5 July 2018

1 reference

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A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis

5 July 2018

1 reference

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Structure of human procathepsin L reveals the molecular basis of inhibition by the prosegment

5 July 2018

1 reference

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Substrate specificity of recombinant osteoclast-specific cathepsin K from rabbits.

5 July 2018

1 reference

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Proteolytic activity of human osteoclast cathepsin K. Expression, purification, activation, and substrate identification

5 July 2018

1 reference

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Cloning and complete coding sequence of a novel human cathepsin expressed in giant cells of osteoclastomas

5 July 2018

1 reference

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Human cathepsin O2, a matrix protein-degrading cysteine protease expressed in osteoclasts. Functional expression of human cathepsin O2 in Spodoptera frugiperda and characterization of the enzyme

5 July 2018

1 reference

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Molecular cloning of a possible cysteine proteinase predominantly expressed in osteoclasts.

5 July 2018

1 reference

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Molecular cloning of human cDNA for cathepsin K: novel cysteine proteinase predominantly expressed in bone

5 July 2018

1 reference

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Molecular cloning of human cathepsin O, a novel endoproteinase and homologue of rabbit OC2

5 July 2018

1 reference

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Human cathepsin O2, a novel cysteine protease highly expressed in osteoclastomas and ovary molecular cloning, sequencing and tissue distribution

5 July 2018

1 reference

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Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

5 July 2018

1 reference

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Modification of enzymatically amplified DNA for the detection of point mutations.

5 July 2018

1 reference

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The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

5 July 2018

1 reference

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Protein folding and association: insights from the interfacial and thermodynamic properties of hydrocarbons

5 July 2018

1 reference

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Rat procathepsin B. Proteolytic processing to the mature form in vitro.

5 July 2018

1 reference

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5 July 2018

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Collagenase: a key enzyme in collagen turnover

29 October 2018

1 reference

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Processing of the papain precursor. The ionization state of a conserved amino acid motif within the Pro region participates in the regulation of intramolecular processing.

29 October 2018

1 reference

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Weighing naked proteins: practical, high-accuracy mass measurement of peptides and proteins

29 October 2018

1 reference

12 December 2020

Functional expression of human cathepsin S in Saccharomyces cerevisiae. Purification and characterization of the recombinant enzyme

1 reference

12 December 2020

Alignment/phylogeny of the papain superfamily of cysteine proteases.

1 reference

12 December 2020

Phagocytosis of bone collagen by osteoclasts in two cases of pycnodysostosis

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI653

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10074491%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference

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11 November 2019

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