International audienceDunnigan-type familial partial lipodystrophy (FPLD) is a laminopathy characterized by an aberrant fat distribution and a metabolic syndrome for which oxidative stress has recently been suggested as one of the disease-causing mechanisms. In a family affected with FPLD, we identified a heterozygous missense mutation c.1315C>T in the LMNA gene leading to the p.R439C substitution. Cultured patient fibroblasts do not show any prelamin A accumulation and reveal honeycomb-like lamin A/C formations in a significant percentage of nuclei. The mutation affects a region in the C-terminal globular domain of lamins A and C, different from the FPLD-related hot spot. Here, the introduction of an extra cysteine allows for the formation...
Familial partial lipodystrophy is an autosomal dominant disease caused by mutations of the LMNA gene...
A-type lamins, the intermediate filament proteins participating in nuclear structure and function, a...
Background: Familial partial lipodystrophy (FPL) is a rare genetic disorder characterized by selecti...
International audienceDunnigan-type familial partial lipodystrophy (FPLD) is a laminopathy character...
\u3cp\u3eDunnigan-type familial partial lipodystrophy (FPLD) is a laminopathy characterized by an ab...
International audienceMutations in LMNA, encoding A-type lamins, are responsible for laminopathies i...
PubMed ID: 26775134Background Familial partial lipodystrophy (FPL) is a rare genetic disorder charac...
A variety of missense mutations in LMNA (the gene for lamin C and prelamin A) cause familial partial...
: Laminopathies are disorders caused by LMNA gene mutations, which selectively affect different tiss...
The nuclear lamina is located on the inside of the nuclear envelope and plays a key role in nuclear ...
Familial partial lipodystrophy (FPLD), Dunnigan variety, is an autosomal dominant disorder character...
Laminopathies are disorders caused by LMNA gene mutations, which selectively affect different tissue...
Background: Familial partial lipodystrophy (FPL) is a rare genetic disorder characterized by selecti...
International audienceA-type lamins, the intermediate filament proteins participating in nuclear str...
Background: Dunnigan-type familial partial lipodystrophy (FPLD2) is a rare autosomal dominant disea...
Familial partial lipodystrophy is an autosomal dominant disease caused by mutations of the LMNA gene...
A-type lamins, the intermediate filament proteins participating in nuclear structure and function, a...
Background: Familial partial lipodystrophy (FPL) is a rare genetic disorder characterized by selecti...
International audienceDunnigan-type familial partial lipodystrophy (FPLD) is a laminopathy character...
\u3cp\u3eDunnigan-type familial partial lipodystrophy (FPLD) is a laminopathy characterized by an ab...
International audienceMutations in LMNA, encoding A-type lamins, are responsible for laminopathies i...
PubMed ID: 26775134Background Familial partial lipodystrophy (FPL) is a rare genetic disorder charac...
A variety of missense mutations in LMNA (the gene for lamin C and prelamin A) cause familial partial...
: Laminopathies are disorders caused by LMNA gene mutations, which selectively affect different tiss...
The nuclear lamina is located on the inside of the nuclear envelope and plays a key role in nuclear ...
Familial partial lipodystrophy (FPLD), Dunnigan variety, is an autosomal dominant disorder character...
Laminopathies are disorders caused by LMNA gene mutations, which selectively affect different tissue...
Background: Familial partial lipodystrophy (FPL) is a rare genetic disorder characterized by selecti...
International audienceA-type lamins, the intermediate filament proteins participating in nuclear str...
Background: Dunnigan-type familial partial lipodystrophy (FPLD2) is a rare autosomal dominant disea...
Familial partial lipodystrophy is an autosomal dominant disease caused by mutations of the LMNA gene...
A-type lamins, the intermediate filament proteins participating in nuclear structure and function, a...
Background: Familial partial lipodystrophy (FPL) is a rare genetic disorder characterized by selecti...