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Generalized lipoatrophy syndromes.
Sorkina E, Chichkova V. Sorkina E, et al. Presse Med. 2021 Nov;50(3):104075. doi: 10.1016/j.lpm.2021.104075. Epub 2021 Sep 22. Presse Med. 2021. PMID: 34562560 Review.
Generalized lipodystrophy (GL) syndromes are a group of rare heterogenous disorders, characterized by total subcutaneous fat loss. ...In this review we aimed to summarize the information on all forms of generalized lipodystrophy, especially the ones of …
Generalized lipodystrophy (GL) syndromes are a group of rare heterogenous disorders, characterized by total subcutaneous fat l …
Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review.
Opri R, Fabrizi GM, Cantalupo G, Ferrarini M, Simonati A, Dalla Bernardina B, Darra F. Opri R, et al. Seizure. 2016 Nov;42:1-6. doi: 10.1016/j.seizure.2016.08.008. Epub 2016 Sep 5. Seizure. 2016. PMID: 27632409 Free article. Review.
Herein we describe clinical and EEG features of three patients presenting with Progressive Myoclonus Epilepsy (PME) and Congenital Generalized Lipodystrophy type 2 (CGL2) related to novel Seipin mutations. ...
Herein we describe clinical and EEG features of three patients presenting with Progressive Myoclonus Epilepsy (PME) and Congenital …
Congenital generalized lipodystrophies--new insights into metabolic dysfunction.
Patni N, Garg A. Patni N, et al. Nat Rev Endocrinol. 2015 Sep;11(9):522-34. doi: 10.1038/nrendo.2015.123. Epub 2015 Aug 4. Nat Rev Endocrinol. 2015. PMID: 26239609 Free PMC article. Review.
Congenital generalized lipodystrophy (CGL) is a heterogeneous autosomal recessive disorder characterized by a near complete lack of adipose tissue from birth and, later in life, the development of metabolic complications, such as diabetes mellitus, hypertrigl …
Congenital generalized lipodystrophy (CGL) is a heterogeneous autosomal recessive disorder characterized by a near comp …
A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature.
Mancioppi V, Daffara T, Romanisio M, Ceccarini G, Pelosini C, Santini F, Bellone S, Mellone S, Baricich A, Rabbone I, Aimaretti G, Akinci B, Giordano M, Prodam F. Mancioppi V, et al. Front Endocrinol (Lausanne). 2023 Jul 12;14:1212729. doi: 10.3389/fendo.2023.1212729. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37501786 Free PMC article. Review.
Lipodystrophy syndromes are characterized by a progressive metabolic impairment secondary to adipose tissue dysfunction and may have a genetic background. Congenital generalized lipodystrophy type 4 (CGL4) is an extremely rare subtype, caused by …
Lipodystrophy syndromes are characterized by a progressive metabolic impairment secondary to adipose tissue dysfunction and may have …
Towards a mechanistic understanding of lipodystrophy and seipin functions.
Wee K, Yang W, Sugii S, Han W. Wee K, et al. Biosci Rep. 2014 Oct 2;34(5):e00141. doi: 10.1042/BSR20140114. Biosci Rep. 2014. PMID: 25195639 Free PMC article. Review.
CGL (Congenital generalized lipodystrophy) is a genetic disorder characterized by near complete loss of adipose tissue along with increased ectopic fat storage in other organs including liver and muscle. Of the four CGL types, BSCL2 (Berardinelli-Seip Cong …
CGL (Congenital generalized lipodystrophy) is a genetic disorder characterized by near complete loss of adipose tissue …
The worldwide mutational landscape of Berardinelli-Seip congenital lipodystrophy.
Craveiro Sarmento AS, Ferreira LC, Lima JG, de Azevedo Medeiros LB, Barbosa Cunha PT, Agnez-Lima LF, Galvão Ururahy MA, de Melo Campos JTA. Craveiro Sarmento AS, et al. Mutat Res Rev Mutat Res. 2019 Jul-Sep;781:30-52. doi: 10.1016/j.mrrev.2019.03.005. Epub 2019 Mar 23. Mutat Res Rev Mutat Res. 2019. PMID: 31416577 Review.
Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare disease characterized by the near total absence of body fat at birth. ...Some mutations were distributed homogeneously and others were specific to geographic regions. Type 2 BSCL was mentioned most o …
Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare disease characterized by the near total absence of body fat at bir …
Lipodystrophies: disorders of adipose tissue biology.
Garg A, Agarwal AK. Garg A, et al. Biochim Biophys Acta. 2009 Jun;1791(6):507-13. doi: 10.1016/j.bbalip.2008.12.014. Epub 2009 Jan 7. Biochim Biophys Acta. 2009. PMID: 19162222 Free PMC article. Review.
Recently, the molecular basis of some of the genetic syndromes of lipodystrophies has been elucidated and some of these genetic loci have been found to contribute to lipid droplet formation in adipocytes. The two main types of genetic lipodystrophies are congenital gene …
Recently, the molecular basis of some of the genetic syndromes of lipodystrophies has been elucidated and some of these genetic loci have be …
Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolism.
Hegele RA, Joy TR, Al-Attar SA, Rutt BK. Hegele RA, et al. J Lipid Res. 2007 Jul;48(7):1433-44. doi: 10.1194/jlr.R700004-JLR200. Epub 2007 Mar 20. J Lipid Res. 2007. PMID: 17374881 Free article. Review.
The lipodystrophies are characterized by loss of adipose tissue in some anatomical sites, frequently with fat accumulation in nonatrophic depots and ectopic sites such as liver and muscle. Molecularly characterized forms include Dunnigan-type familial partial lipodystro …
The lipodystrophies are characterized by loss of adipose tissue in some anatomical sites, frequently with fat accumulation in nonatrophic de …
Human lipodystrophies: genetic and acquired diseases of adipose tissue.
Capeau J, Magré J, Caron-Debarle M, Lagathu C, Antoine B, Béréziat VR, Lascols O, Bastard JP, Vigouroux C. Capeau J, et al. Endocr Dev. 2010;19:1-20. doi: 10.1159/000316893. Epub 2010 Jun 15. Endocr Dev. 2010. PMID: 20551664 Free PMC article. Review.
Insulin resistance, dyslipidemia and diabetes are generally associated, leading to early complications. Genetic forms are uncommon: recessive generalized congenital lipodystrophies result in most cases from mutations in the genes encoding seipin or the 1-acyl-glycer …
Insulin resistance, dyslipidemia and diabetes are generally associated, leading to early complications. Genetic forms are uncommon: recessiv …
Genetic basis of lipodystrophies and management of metabolic complications.
Agarwal AK, Garg A. Agarwal AK, et al. Annu Rev Med. 2006;57:297-311. doi: 10.1146/annurev.med.57.022605.114424. Annu Rev Med. 2006. PMID: 16409151 Review.
Among genetic lipodystrophies, fat loss is observed either from birth, as in congenital generalized lipodystrophy, or later in life, as in familial partial lipodystrophy. ...
Among genetic lipodystrophies, fat loss is observed either from birth, as in congenital generalized lipodystrophy, or l …
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