{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:09:54Z","timestamp":1761718194238},"publisher-location":"Berlin, Heidelberg","reference-count":32,"publisher":"Springer Berlin Heidelberg","isbn-type":[{"type":"print","value":"9783642257513"},{"type":"electronic","value":"9783642257520"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2011]]},"DOI":"10.1007\/8904_2011_86","type":"book-chapter","created":{"date-parts":[[2011,11,3]],"date-time":"2011-11-03T09:34:08Z","timestamp":1320312848000},"page":"47-54","source":"Crossref","is-referenced-by-count":10,"title":["A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial Dysfunction"],"prefix":"10.1007","author":[{"given":"Ellen H.","family":"Jeninga","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monique","family":"de Vroede","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole","family":"Hamers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johannes M. P. J.","family":"Breur","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nanda M.","family":"Verhoeven-Duif","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruud","family":"Berger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric","family":"Kalkhoven","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2011,11,4]]},"reference":[{"key":"86_CR1","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1038\/ng880","volume":"31","author":"AK Agarwal","year":"2002","unstructured":"Agarwal AK et al (2002) AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. Nat Genet 31:21\u201323","journal-title":"Nat Genet"},{"key":"86_CR2","doi-asserted-by":"publisher","first-page":"4840","DOI":"10.1210\/jc.2003-030855","volume":"88","author":"AK Agarwal","year":"2003","unstructured":"Agarwal AK et al (2003) Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. J Clin Endocrinol Metab 88:4840\u20134847","journal-title":"J Clin Endocrinol Metab"},{"key":"86_CR3","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1038\/sj.ijo.0802487","volume":"28","author":"AK Agarwal","year":"2004","unstructured":"Agarwal AK et al (2004) Genetic basis of congenital generalized lipodystrophy. Int J Obes Relat Metab Disord 28:336\u2013339","journal-title":"Int J Obes Relat Metab Disord"},{"key":"86_CR4","volume-title":"Current protocols in molecular biology","author":"FM Ausubel","year":"1993","unstructured":"Ausubel FM, Brent R, Kingston R, Moore D, Seidman JJ, Smith J, Struhl K (1993) Current protocols in molecular biology. Wiley, New York"},{"key":"86_CR5","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1034\/j.1399-0004.2002.610407.x","volume":"61","author":"S Bhayana","year":"2002","unstructured":"Bhayana S et al (2002) Cardiomyopathy in congenital complete lipodystrophy. Clin Genet 61:283\u2013287","journal-title":"Clin Genet"},{"key":"86_CR6","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-55878-8","volume-title":"Physician's guide to the laboratory diagnosis of metabolic diseases","author":"N Blau","year":"2003","unstructured":"Blau N, Duran M, Blaskovics ME, Gibson KM (2003) In: Blau N, Duran M, Blaskovics ME, Gibson KM (eds) Physician's guide to the laboratory diagnosis of metabolic diseases. Springer, Berlin"},{"key":"86_CR7","doi-asserted-by":"publisher","first-page":"796","DOI":"10.1016\/j.biochi.2009.01.011","volume":"91","author":"E Boutet","year":"2009","unstructured":"Boutet E et al (2009) Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy. Biochimie 91:796\u2013803","journal-title":"Biochimie"},{"key":"86_CR8","doi-asserted-by":"publisher","first-page":"473","DOI":"10.1083\/jcb.200711136","volume":"180","author":"W Fei","year":"2008","unstructured":"Fei W et al (2008) Fld1p, a functional homologue of human seipin, regulates the size of lipid droplets in yeast. J Cell Biol 180:473\u2013482","journal-title":"J Cell Biol"},{"key":"86_CR9","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1016\/j.ejmg.2008.10.006","volume":"52","author":"B Friguls","year":"2009","unstructured":"Friguls B et al (2009) Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation. Eur J Med Genet 52:14\u201316","journal-title":"Eur J Med Genet"},{"key":"86_CR10","doi-asserted-by":"publisher","first-page":"1220","DOI":"10.1056\/NEJMra025261","volume":"350","author":"A Garg","year":"2004","unstructured":"Garg A (2004) Acquired and inherited lipodystrophies. N Engl J Med 350:1220\u20131234","journal-title":"N Engl J Med"},{"key":"86_CR11","doi-asserted-by":"publisher","first-page":"2623","DOI":"10.1172\/JCI38660","volume":"119","author":"YK Hayashi","year":"2009","unstructured":"Hayashi YK et al (2009) Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. J Clin Invest 119:2623\u20132633","journal-title":"J Clin Invest"},{"key":"86_CR12","doi-asserted-by":"publisher","first-page":"1433","DOI":"10.1194\/jlr.R700004-JLR200","volume":"48","author":"RA Hegele","year":"2007","unstructured":"Hegele RA et al (2007) Thematic review series: Adipocyte Biology Lipodystrophies: windows on adipose biology and metabolism. J Lipid Res 48:1433\u20131444","journal-title":"J Lipid Res"},{"key":"86_CR13","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1677\/JOE-10-0272","volume":"207","author":"I Huang-Doran","year":"2010","unstructured":"Huang-Doran I et al (2010) Lipodystrophy: metabolic insights from a rare disorder. J Endocrinol 207:245\u2013255","journal-title":"J Endocrinol"},{"key":"86_CR14","doi-asserted-by":"publisher","first-page":"266","DOI":"10.1016\/j.nbd.2008.05.004","volume":"31","author":"D Ito","year":"2008","unstructured":"Ito D et al (2008) Characterization of seipin\/BSCL2, a protein associated with spastic paraplegia 17. Neurobiol Dis 31:266\u2013277","journal-title":"Neurobiol Dis"},{"key":"86_CR15","doi-asserted-by":"publisher","first-page":"581","DOI":"10.1016\/j.tem.2010.06.006","volume":"21","author":"EH Jeninga","year":"2010","unstructured":"Jeninga EH, Kalkhoven E (2010) Central players in inherited lipodystrophies. Trends Endocrinol Metab 21:581\u2013588","journal-title":"Trends Endocrinol Metab"},{"key":"86_CR16","doi-asserted-by":"publisher","first-page":"2944","DOI":"10.2337\/diabetes.51.10.2944","volume":"51","author":"DE Kelley","year":"2002","unstructured":"Kelley DE et al (2002) Dysfunction of mitochondria in human skeletal muscle in type 2 diabetes. Diabetes 51:2944\u20132950","journal-title":"Diabetes"},{"key":"86_CR17","doi-asserted-by":"publisher","first-page":"1129","DOI":"10.1210\/jc.2007-1328","volume":"93","author":"CA Kim","year":"2008","unstructured":"Kim CA et al (2008) Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. J Clin Endocrinol Metab 93:1129\u20131134","journal-title":"J Clin Endocrinol Metab"},{"key":"86_CR18","first-page":"50","volume":"29","author":"A Klar","year":"1993","unstructured":"Klar A et al (1993) Cardiomyopathy in lipodystrophy and the specificity spillover hypothesis. Isr J Med Sci 29:50\u201352","journal-title":"Isr J Med Sci"},{"key":"86_CR19","doi-asserted-by":"publisher","first-page":"384","DOI":"10.1126\/science.1104343","volume":"307","author":"BB Lowell","year":"2005","unstructured":"Lowell BB, Shulman GI (2005) Mitochondrial dysfunction and type 2 diabetes. Science 307:384\u2013387","journal-title":"Science"},{"key":"86_CR20","doi-asserted-by":"publisher","first-page":"2281","DOI":"10.1016\/j.febslet.2006.03.040","volume":"580","author":"C Lundin","year":"2006","unstructured":"Lundin C et al (2006) Membrane topology of the human seipin protein. FEBS Lett 580:2281\u20132284","journal-title":"FEBS Lett"},{"key":"86_CR21","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1097\/MD.0b013e3181e9442f","volume":"89","author":"BC Lupsa","year":"2010","unstructured":"Lupsa BC et al (2010) Cardiomyopathy in congenital and acquired generalized lipodystrophy: a clinical assessment. Medicine (Baltimore) 89:245\u2013250","journal-title":"Medicine (Baltimore)"},{"key":"86_CR22","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1038\/ng585","volume":"28","author":"J Magre","year":"2001","unstructured":"Magre J et al (2001) Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat Genet 28:365\u2013370","journal-title":"Nat Genet"},{"key":"86_CR23","doi-asserted-by":"publisher","first-page":"344","DOI":"10.1016\/j.tem.2007.08.007","volume":"18","author":"U Ortegren","year":"2007","unstructured":"Ortegren U et al (2007) A new role for caveolae as metabolic platforms. Trends Endocrinol Metab 18:344\u2013349","journal-title":"Trends Endocrinol Metab"},{"key":"86_CR24","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1038\/nrm2122","volume":"8","author":"RG Parton","year":"2007","unstructured":"Parton RG, Simons K (2007) The multiple faces of caveolae. Nat Rev Mol Cell Biol 8:185\u2013194","journal-title":"Nat Rev Mol Cell Biol"},{"key":"86_CR25","doi-asserted-by":"publisher","first-page":"2055","DOI":"10.2337\/db08-0184","volume":"57","author":"VA Payne","year":"2008","unstructured":"Payne VA et al (2008) The human lipodystrophy gene BSCL2\/seipin may be essential for normal adipocyte differentiation. Diabetes 57:2055\u20132060","journal-title":"Diabetes"},{"key":"86_CR26","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1007\/978-3-540-76698-8_9","volume-title":"Laboratory guide to the methods in biochemical genetics","author":"P Rinaldo","year":"2008","unstructured":"Rinaldo P (2008) In: Blau N, Duran M, Gibson KM (eds) Laboratory guide to the methods in biochemical genetics. Springer, Berlin, p 137"},{"key":"86_CR27","doi-asserted-by":"publisher","first-page":"507","DOI":"10.1152\/physrev.00024.2006","volume":"87","author":"DB Savage","year":"2007","unstructured":"Savage DB et al (2007) Disordered lipid metabolism and the pathogenesis of insulin resistance. Physiol Rev 87:507\u2013520","journal-title":"Physiol Rev"},{"key":"86_CR28","doi-asserted-by":"publisher","first-page":"2457","DOI":"10.1172\/JCI46405","volume":"121","author":"A Sleigh","year":"2011","unstructured":"Sleigh A et al (2011) Mitochondrial dysfunction in patients with primary congenital insulin resistance. J Clin Invest 121:2457\u20132461","journal-title":"J Clin Invest"},{"key":"86_CR29","doi-asserted-by":"publisher","first-page":"20890","DOI":"10.1073\/pnas.0704154104","volume":"104","author":"KM Szymanski","year":"2007","unstructured":"Szymanski KM et al (2007) The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology. Proc Natl Acad Sci USA 104:20890\u201320895","journal-title":"Proc Natl Acad Sci USA"},{"key":"86_CR30","doi-asserted-by":"publisher","first-page":"303","DOI":"10.1128\/MCB.26.1.303-312.2006","volume":"26","author":"SF Graaf van de","year":"2006","unstructured":"van de Graaf SF et al (2006) Direct interaction with Rab11a targets the epithelial Ca2+ channels TRPV5 and TRPV6 to the plasma membrane. Mol Cell Biol 26:303\u2013312","journal-title":"Mol Cell Biol"},{"key":"86_CR31","doi-asserted-by":"publisher","first-page":"722","DOI":"10.1136\/jmg.39.10.722","volume":"39","author":"L Maldergem Van","year":"2002","unstructured":"Van Maldergem L et al (2002) Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. J Med Genet 39:722\u2013733","journal-title":"J Med Genet"},{"key":"86_CR32","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1038\/ng1313","volume":"36","author":"C Windpassinger","year":"2004","unstructured":"Windpassinger C et al (2004) Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet 36:271\u2013276","journal-title":"Nat Genet"}],"container-title":["JIMD Reports","JIMD Reports - Case and Research Reports, 2012\/1"],"original-title":[],"link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/8904_2011_86","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,10]],"date-time":"2019-05-10T14:58:00Z","timestamp":1557500280000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/8904_2011_86"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011]]},"ISBN":["9783642257513","9783642257520"],"references-count":32,"URL":"https:\/\/doi.org\/10.1007\/8904_2011_86","relation":{},"ISSN":["2192-8304","2192-8312"],"issn-type":[{"type":"print","value":"2192-8304"},{"type":"electronic","value":"2192-8312"}],"subject":[],"published":{"date-parts":[[2011]]}}}