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ZMPSTE24 missense mutations that cause progeroid diseases decrease prelamin A cleavage activity and/or protein stability

Abstract:

The human zinc metalloprotease ZMPSTE24 is an integral membrane protein critical for the final step in the biogenesis of the nuclear scaffold protein lamin A, encoded by LMNA After farnesylation and carboxyl methylation of its C-terminal CAAX motif, the lamin A precursor, prelamin A, undergoes proteolytic removal of its modified C-terminal 15 amino acids by ZMPSTE24. Mutations in LMNA or ZMPSTE24 that impede this prelamin A cleavage step cause the premature aging disease Hutchinson-Gilford Pr...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1242/dmm.033670

Authors


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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
NDM; Structural Genomics Consortium
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Structural Genomics Consortium
Role:
Author
More from this funder
Name:
National Institutes of Health
Funding agency for:
Hrycyna, CA
Michaelis, S
Grant:
R01 GM041223
R01 GM041223
More from this funder
Name:
Structural Genomics Consortium
Funding agency for:
Carpenter, EP
Grant:
MR/L017458/1
More from this funder
Name:
Medical Research Council
Funding agency for:
Nie, L
Carpenter, EP
Grant:
MR/L017458/1
MR/L017458/1
Publisher:
Company of Biologists
Journal:
Disease Models and Mechanisms More from this journal
Publication date:
2018-07-13
Acceptance date:
2018-05-16
DOI:
EISSN:
1754-8411
ISSN:
1754-8403
Pmid:
29794150
Language:
English
Keywords:
Pubs id:
pubs:854539
UUID:
uuid:f2b23c6d-8718-436b-9857-4e0929802ad0
Local pid:
pubs:854539
Source identifiers:
854539
Deposit date:
2018-07-24

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