The posttranslational processing of prelamin A and disease

Brandon S J Davies; Loren G Fong; Shao H Yang; Catherine Coffinier; Stephen G Young

doi:10.1146/annurev-genom-082908-150150

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The posttranslational processing of prelamin A and disease

Journal article

Open access

Peer reviewed

The posttranslational processing of prelamin A and disease

Brandon S J Davies, Loren G Fong, Shao H Yang, Catherine Coffinier and Stephen G Young

Annual review of genomics and human genetics, Vol.10(1), pp.153-174

2009

DOI: 10.1146/annurev-genom-082908-150150

PMCID: PMC2846822

PMID: 19453251

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https://doi.org/10.1146/annurev-genom-082908-150150View

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Abstract

Human geneticists have shown that some progeroid syndromes are caused by mutations that interfere with the conversion of farnesyl-prelamin A to mature lamin A. For example, Hutchinson-Gilford progeria syndrome is caused by LMNA mutations that lead to the accumulation of a farnesylated version of prelamin A. In this review, we discuss the posttranslational modifications of prelamin A and their relevance to the pathogenesis and treatment of progeroid syndromes.

Protein Precursors - genetics

Humans

Lamin Type A

Nuclear Proteins - metabolism

Progeria - genetics

Progeria - metabolism

Enzyme Inhibitors - therapeutic use

Progeria - drug therapy

Protein Precursors - metabolism

Animals

Farnesyltranstransferase - antagonists & inhibitors

Protein Processing, Post-Translational

Nuclear Proteins - genetics

Infant, Newborn

Disease Models, Animal

Details

Title: Subtitle: The posttranslational processing of prelamin A and disease
Creators: Brandon S J Davies - Department of Medicine, University of California, Los Angeles, California 90095, USA. bdavies@mednet.ucla.edu
Loren G Fong
Shao H Yang
Catherine Coffinier
Stephen G Young
Resource Type: Journal article
Publication Details: Annual review of genomics and human genetics, Vol.10(1), pp.153-174
DOI: 10.1146/annurev-genom-082908-150150
PMID: 19453251
PMCID: PMC2846822
NLM abbreviation: Annu Rev Genomics Hum Genet
ISSN: 1527-8204
eISSN: 1545-293X
Publisher: United States
Grant note: R01 AG035626-07 / NIA NIH HHS AR050200 / NIAMS NIH HHS R01 HL086683 / NHLBI NIH HHS HL86683 / NHLBI NIH HHS R01 HL076839 / NHLBI NIH HHS R01 AR050200 / NIAMS NIH HHS HL76839 / NHLBI NIH HHS R01 AG035626 / NIA NIH HHS
Language: English
Date published: 2009
Academic Unit: Fraternal Order of Eagles Diabetes Research Center; Biochemistry and Molecular Biology
Record Identifier: 9984024561502771

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