Regular ArticleCharacterization of Adiposity and Metabolism in Lmna-Deficient Mice
References (28)
- et al.
Review: Nuclear lamins—Structural proteins with fundamental functions
J. Struct. Biol.
(2000) - et al.
Review: The dynamics of the nuclear lamins during the cell cycle—Relationship between structure and function
J. Struct. Biol.
(2000) - et al.
Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C
Am. J. Hum. Genet.
(2000) - et al.
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery–Dreifuss muscular dystrophy
Am. J. Hum. Genet.
(2000) - et al.
Nuclear lamins: Their structure, assembly, and interactions
J. Struct. Biol.
(1998) - et al.
Transcriptional repression, apoptosis, human disease and the functional evolution of the nuclear lamina
Trends Biochem. Sci.
(2001) - et al.
The A-type lamins—Nuclear structural proteins as a focus for muscular dystrophy and cardiovascular diseases
Trends Cardiovasc. Med.
(2001) - et al.
Insulin-stimulated translocation of glucose transport systems in the isolated rat adipose cell. Time course, reversal, insulin concentration dependency, and relationship to glucose transport activity
J. Biol. Chem.
(1981) - et al.
Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy
Hum. Mol. Genet.
(2000) - et al.
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy
Nat. Genet.
(2000)
Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety)
J. Clin. Endocrinol. Metab.
Familial lipoatrophic diabetes with dominant transmission. A new syndrome
Q. J. Med.
Familial partial lipodystrophy: Two types of an X linked dominant syndrome, lethal in the hemizygous state
J. Med. Genet.
Cited by (56)
Fatty liver in lipodystrophy: A review with a focus on therapeutic perspectives of adiponectin and/or leptin replacement
2019, Metabolism: Clinical and ExperimentalCitation Excerpt :To the best of our knowledge, there are mice models mimicking human FPLD2 – FPLD5, but not FPLD1 for which the specific mutation remains largely unknown. Knock out mice for LMNA A/C (LMNA−/−) or LMNA+/− do not demonstrate metabolic abnormalities [32,36], thus they do not mimic human FPLD2. In contrast, fat-specific expression of mutant lamin A or C leads to progressive partial lipodystrophy, which resembles the course of the disease observed in humans.
Lamins and Lamin-Associated Proteins in Gastrointestinal Health and Disease
2018, GastroenterologyCitation Excerpt :Mice homozygous for these deletions have a phenotype similar to mice homozygous for LmnaSul/Sul, but die by 3 weeks rather than 8 weeks of age, indicating that the truncated LmnaSul gene product is partially functional.121,122 LmnaSul/Sul mice were initially reported to have no adipogenic or metabolic defects.123 However, subsequent studies with these mice,124 and with 2 separate lines of mice with different loss-of-function alleles,121,122 reported fat loss, impaired ex vivo adipogenesis, increased lipolysis in white adipose tissue, and impaired thermogenesis in brown adipose tissue in homozygous mice.
Hepatocyte-Specific Deletion of Mouse Lamin A/C Leads to Male-Selective Steatohepatitis
2017, Cellular and Molecular Gastroenterology and HepatologyRapamycin Reverses Metabolic Deficits in Lamin A/C-Deficient Mice
2016, Cell ReportsCitation Excerpt :This implies that rapamycin enhances survival in Lmna−/− mice either through improvements in cardiac or skeletal muscle function, even though this was insufficient to affect survival in LmnaH222P/H222P mice, or through other unknown physiologic consequences, perhaps related to aspects of metabolism not phenocopied by thermoneutrality. Lmna−/− mice, used commonly as a model for the cardiomyopathy and muscular dystrophy associated with human mutations in LMNA (Schreiber and Kennedy, 2013; Zhang et al., 2013a), are also reported to be lean (Sullivan et al., 1999), and this has been speculated to be a consequence of their myopathic disease rather than lipodystrophy (Cutler et al., 2002). Here we show that Lmna−/− mice have elevated EE.
Functional architecture of the cell's nucleus in development, aging, and disease
2014, Current Topics in Developmental BiologyCitation Excerpt :All of these additional lines, that as homozygotes, develop overtly normally to birth. However, within the first 2 weeks of postnatal development, the homozygotes are growth retarded, with retardation being associated with defective skeletogenesis, skeletal hypomineralization (Li et al., 2011), immature muscle and heart development, together with metabolic complications associated with cachexia (Cutler et al., 2002). By 3 weeks, the homozygotes are dead, with the LmnaSul/Sul dying around 5–6 weeks, and which therefore express the mildest phenotype.
- 1
To whom correspondence and reprint requests should be addressed at Diabetes Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Building 10, Room 8N-250, 10 Center Drive, Bethesda, MD 20892-1770. Fax: (301) 402-5788. E-mail: [email protected].