Lamin A tail modification by SUMO1 is disrupted by familial partial lipodystrophy–causing mutations
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چکیده
منابع مشابه
Lamin A tail modification by SUMO1 is disrupted by familial partial lipodystrophy–causing mutations
Lamin filaments are major components of the nucleoskeleton that bind LINC complexes and many nuclear membrane proteins. The tail domain of lamin A directly binds 21 known partners, including actin, emerin, and SREBP1, but how these interactions are regulated is unknown. We report small ubiquitin-like modifier 1 (SUMO1) as a major new posttranslational modification of the lamin A tail. Two SUMO1...
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We previously identified a novel mutation, namely LMNA R482Q, that was found to underlie Dunnigan-type partial lipodystrophy (FPLD) and diabetes in an extended Canadian kindred. We have since sequenced LMNA in five additional Canadian FPLD probands and herein report three new rare missense mutations in LMNA: V440M, R482W, and R584H. One severely affected subject was a compound heterozygote for ...
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ژورنال
عنوان ژورنال: Molecular Biology of the Cell
سال: 2013
ISSN: 1059-1524,1939-4586
DOI: 10.1091/mbc.e12-07-0527