scholarly journals Familial partial lipodystrophy linked to a novel peroxisome proliferator activator receptor -γ (PPARG) mutation, H449L: a comparison of people with this mutation and those with classic codon 482 Lamin A/C (LMNA) mutations

2016 ◽  
Vol 33 (10) ◽  
pp. 1445-1450 ◽  
Author(s):  
T. Demir ◽  
H. Onay ◽  
D. B. Savage ◽  
E. Temeloglu ◽  
A. K. Uzum ◽  
...  
Keyword(s):  
Lamin A ◽  
Peroxisome Proliferator ◽  
Partial Lipodystrophy ◽  
Familial Partial Lipodystrophy

scholarly journals Molecular and Mechanobiological Pathways Related to the Physiopathology of FPLD2

Cells ◽  
2020 ◽  
Vol 9 (9) ◽  
pp. 1947
Author(s):  
Alice-Anaïs Varlet ◽  
Emmanuèle Helfer ◽  
Catherine Badens
Keyword(s):  
Mechanical Properties ◽  
Signaling Pathways ◽  
Metabolic Disorders ◽  
Lamin A ◽  
Partial Lipodystrophy ◽  
Familial Partial Lipodystrophy ◽  
Atherosclerotic Cardiovascular Diseases ◽  
Almost All ◽  
Type V

Laminopathies are rare and heterogeneous diseases affecting one to almost all tissues, as in Progeria, and sharing certain features such as metabolic disorders and a predisposition to atherosclerotic cardiovascular diseases. These two features are the main characteristics of the adipose tissue-specific laminopathy called familial partial lipodystrophy type 2 (FPLD2). The only gene that is involved in FPLD2 physiopathology is the LMNA gene, with at least 20 mutations that are considered pathogenic. LMNA encodes the type V intermediate filament lamin A/C, which is incorporated into the lamina meshwork lining the inner membrane of the nuclear envelope. Lamin A/C is involved in the regulation of cellular mechanical properties through the control of nuclear rigidity and deformability, gene modulation and chromatin organization. While recent studies have described new potential signaling pathways dependent on lamin A/C and associated with FPLD2 physiopathology, the whole picture of how the syndrome develops remains unknown. In this review, we summarize the signaling pathways involving lamin A/C that are associated with the progression of FPLD2. We also explore the links between alterations of the cellular mechanical properties and FPLD2 physiopathology. Finally, we introduce potential tools based on the exploration of cellular mechanical properties that could be redirected for FPLD2 diagnosis.

Spectrum of nuclear lamin A/C mutations and metabolic phenotypes in familial partial lipodystrophy

2000 ◽  
Vol 151 (1) ◽  
pp. 80
Author(s):  
RobertA. Hegele ◽  
CarolM. Anderson ◽  
Jian Wang ◽  
Henian Cao
Keyword(s):  
Lamin A ◽  
Partial Lipodystrophy ◽  
Metabolic Phenotypes ◽  
Nuclear Lamin ◽  
Familial Partial Lipodystrophy

A case of Dunnigan-type familial partial lipodystrophy (FPLD) due to lamin A/C (LMNA) mutations complicated by end-stage renal disease

Endocrine ◽  
2008 ◽  
Vol 35 (1) ◽  
pp. 18-21 ◽  
Author(s):  
Hitomi Imachi ◽  
Koji Murao ◽  
Shouji Ohtsuka ◽  
Mako Fujiwara ◽  
Tomie Muraoka ◽  
...  
Keyword(s):  
Renal Disease ◽  
End Stage Renal Disease ◽  
Lamin A ◽  
Partial Lipodystrophy ◽  
Familial Partial Lipodystrophy ◽  
Stage Renal Disease ◽  
End Stage

A case of familial partial lipodystrophy caused by a novel lamin A/C (LMNA) mutation in exon 1 (D47N)

2016 ◽  
Vol 29 ◽  
pp. 37-39 ◽  
Author(s):  
Nilufer Ozdemir Kutbay ◽  
Banu Sarer Yurekli ◽  
Huseyin Onay ◽  
Canan Tuncer Altay ◽  
Tahir Atik ◽  
...  
Keyword(s):  
Lamin A ◽  
Partial Lipodystrophy ◽  
Lmna Mutation ◽  
Exon 1 ◽  
Familial Partial Lipodystrophy

Novel peroxisome proliferator-activated receptor gamma mutation in a family with familial partial lipodystrophy type 3

2015 ◽  
Vol 84 (1) ◽  
pp. 141-148 ◽  
Author(s):  
Konstanze Miehle ◽  
Joseph Porrmann ◽  
Diana Mitter ◽  
Michael Stumvoll ◽  
Christiane Glaser ◽  
...  
Keyword(s):  
Peroxisome Proliferator ◽  
Peroxisome Proliferator Activated Receptor ◽  
Partial Lipodystrophy ◽  
Familial Partial Lipodystrophy ◽  
Type 3
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