2023
DOI: 10.1002/adbi.202200301
|View full text |Cite
|
Sign up to set email alerts
|

The Clinical Characteristics and Potential Molecular Mechanism of LMNA Mutation‐Related Lipodystrophy

Cheng Xiao,
Jieying Liu,
Chunru Yang
et al.

Abstract: This study aimed to enhance understanding of LMNA mutation‐related lipodystrophy by elucidating genotype‐phenotype correlations and potential molecular mechanisms. Clinical data from six patients with LMNA mutation‐related lipodystrophy are analyzed, and four distinct LMNA mutations are identified. Associations between mutations and lipodystrophy phenotypes are assessed. Three LMNA mutation plasmids are constructed and transfected into HEK293 cells. Protein stability, degradation pathways, and binding proteins… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...

Citation Types

0
0
0

Year Published

2024
2024
2024
2024

Publication Types

Select...
3

Relationship

0
3

Authors

Journals

citations
Cited by 3 publications
references
References 31 publications
(38 reference statements)
0
0
0
Order By: Relevance