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Volumn , Issue , 2015, Pages 287-302

Lipodystrophies and dyslipidemias

Author keywords

[No Author keywords available]

Indexed keywords


EID: 84939571437     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-1-60761-424-1_16     Document Type: Chapter
Times cited : (2)

References (88)
  • 1
    • 1542510700 scopus 로고    scopus 로고
    • Acquired and inherited lipodystrophies
    • Garg A. Acquired and inherited lipodystrophies. N Engl J Med. 2004;350:1220–34.
    • (2004) N Engl J Med , vol.350 , pp. 1220-1234
    • Garg, A.1
  • 2
    • 0029895842 scopus 로고    scopus 로고
    • Generalized lipodystrophy, congenital and acquired (Lipoatrophy)
    • Seip M, Trygstad O. Generalized lipodystrophy, congenital and acquired (lipoatrophy). Acta Paediatr Suppl. 1996;413:2–28.
    • (1996) Acta Paediatr Suppl , vol.413 , pp. 2-28
    • Seip, M.1    Trygstad, O.2
  • 3
    • 10744220431 scopus 로고    scopus 로고
    • Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy
    • Agarwal AK, Simha V, Oral EA, et al. Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. J Clin Endocrinol Metab. 2003;88:4840–7.
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 4840-4847
    • Agarwal, A.K.1    Simha, V.2    Oral, E.A.3
  • 4
    • 18644371065 scopus 로고    scopus 로고
    • Genotype-phenotype relationships in Berardinelli- Seip congenital lipodystrophy
    • Van Maldergem L, Magre J, Khallouf TE, et al. Genotype-phenotype relationships in Berardinelli- Seip congenital lipodystrophy. J Med Genet. 2002;39:722–33.
    • (2002) J Med Genet , vol.39 , pp. 722-733
    • Van Maldergem, L.1    Magre, J.2    Khallouf, T.E.3
  • 5
    • 0033305362 scopus 로고    scopus 로고
    • A gene for congenital generalized lipodystrophy maps to human chromosome 9q34
    • Garg A, Wilson R, Barnes R, et al. A gene for congenital generalized lipodystrophy maps to human chromosome 9q34. J Clin Endocrinol Metab. 1999;84:3390–4.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 3390-3394
    • Garg, A.1    Wilson, R.2    Barnes, R.3
  • 6
    • 0036578783 scopus 로고    scopus 로고
    • AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34
    • Agarwal AK, Arioglu E, De Almeida S, et al. AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. Nat Genet. 2002;31:21–3.
    • (2002) Nat Genet , vol.31 , pp. 21-23
    • Agarwal, A.K.1    Arioglu, E.2    De Almeida, S.3
  • 7
    • 0034941121 scopus 로고    scopus 로고
    • Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13
    • Magre J, Delepine M, Khallouf E, et al. Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat Genet. 2001;28:365–70.
    • (2001) Nat Genet , vol.28 , pp. 365-370
    • Magre, J.1    Delepine, M.2    Khallouf, E.3
  • 8
    • 41549146084 scopus 로고    scopus 로고
    • Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy
    • Kim CA, Delepine M, Boutet E, et al. Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. J Clin Endocrinol Metab. 2008;93:1129–34.
    • (2008) J Clin Endocrinol Metab , vol.93 , pp. 1129-1134
    • Kim, C.A.1    Delepine, M.2    Boutet, E.3
  • 9
    • 70349195987 scopus 로고    scopus 로고
    • Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy
    • Hayashi YK, Matsuda C, Ogawa M, et al. Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. J Clin Invest. 2009;119:2623–33.
    • (2009) J Clin Invest , vol.119 , pp. 2623-2633
    • Hayashi, Y.K.1    Matsuda, C.2    Ogawa, M.3
  • 10
    • 51449114051 scopus 로고    scopus 로고
    • Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability
    • Simha V, Agarwal AK, Aronin PA et al. Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability. Am J Med Genet A. 2008; 146A:2318–26.
    • (2008) Am J Med Genet A , vol.146A , pp. 2318-2326
    • Simha, V.1    Agarwal, A.K.2    Aronin, P.A.3
  • 11
    • 0344442411 scopus 로고    scopus 로고
    • Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes
    • Simha V, Garg A. Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes. J Clin Endocrinol Metab. 2003;88:5433–7.
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 5433-5437
    • Simha, V.1    Garg, A.2
  • 12
    • 77950431859 scopus 로고    scopus 로고
    • Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations
    • Rajab A, Straub V, McCann LJ, et al. Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations. PLoS Genet. 2010; 6:e1000874.
    • (2010) Plos Genet , vol.6
    • Rajab, A.1    Straub, V.2    McCann, L.J.3
  • 13
    • 77956097576 scopus 로고    scopus 로고
    • Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations
    • Shastry S, Delgado MR, Dirik E, et al. Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations. Am J Med Genet A. 2010; 152A:2245–53.
    • (2010) Am J Med Genet A , vol.152A , pp. 2245-2253
    • Shastry, S.1    Delgado, M.R.2    Dirik, E.3
  • 14
    • 0034059075 scopus 로고    scopus 로고
    • Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy
    • Cao H, Hegele RA. Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum Mol Genet. 2000;9:109–12.
    • (2000) Hum Mol Genet , vol.9 , pp. 109-112
    • Cao, H.1    Hegele, R.A.2
  • 15
    • 0033951216 scopus 로고    scopus 로고
    • LMNA, encoding lamin A/C, is mutated in partial lipodystrophy
    • Shackleton S, Lloyd DJ, Jackson SN, et al. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nature genetics. 2000;24:153–6.
    • (2000) Nature Genetics , vol.24 , pp. 153-156
    • Shackleton, S.1    Lloyd, D.J.2    Jackson, S.N.3
  • 16
    • 0033912260 scopus 로고    scopus 로고
    • 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
    • Speckman RA, Garg A, Du F, 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;66:1192–8.
    • (2000) Am J Hum Genet , vol.66 , pp. 1192-1198
    • Speckman, R.A.1    Garg, A.2    Du, F.3
  • 17
    • 0036146384 scopus 로고    scopus 로고
    • A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy
    • Agarwal AK, Garg A. A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy. J Clin Endocrinol Metab. 2002;87:408–11.
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 408-411
    • Agarwal, A.K.1    Garg, A.2
  • 18
    • 0036894397 scopus 로고    scopus 로고
    • PPARG F388 L, a transactivation-deficient mutant, in familial partial lipodystrophy
    • Hegele RA, Cao H, Frankowski C, et al. PPARG F388 L, a transactivation-deficient mutant, in familial partial lipodystrophy. Diabetes. 2002;51:3586–90.
    • (2002) Diabetes , vol.51 , pp. 3586-3590
    • Hegele, R.A.1    Cao, H.2    Frankowski, C.3
  • 20
    • 2542528670 scopus 로고    scopus 로고
    • A family with severe insulin resistance and diabetes due to a mutation in AKT2
    • George S, Rochford JJ, Wolfrum C, et al. A family with severe insulin resistance and diabetes due to a mutation in AKT2. Science. 2004;304:1325–8.
    • (2004) Science , vol.304 , pp. 1325-1328
    • George, S.1    Rochford, J.J.2    Wolfrum, C.3
  • 21
    • 0015979147 scopus 로고
    • Familial lipoatrophic diabetes with dominant transmission. A new syndrome
    • Dunnigan MG, Cochrane MA, Kelly A, Scott JW. Familial lipoatrophic diabetes with dominant transmission. A new syndrome. Q J Med. 1974;43:33–48.
    • (1974) Q J Med , vol.43 , pp. 33-48
    • Dunnigan, M.G.1    Cochrane, M.A.2    Kelly, A.3    Scott, J.W.4
  • 22
    • 0032959251 scopus 로고    scopus 로고
    • Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety)
    • Garg A, Peshock RM, Fleckenstein JL. Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety). J Clin Endocrinol Metab. 1999;84:170–4.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 170-174
    • Garg, A.1    Peshock, R.M.2    Fleckenstein, J.L.3
  • 23
    • 0035145898 scopus 로고    scopus 로고
    • Phenotypic heterogeneity in patients with familial partial lipodystrophy (Dunnigan variety) related to the site of missense mutations in lamin a/c gene
    • Garg A, Vinaitheerthan M, Weatherall PT, Bowcock AM. Phenotypic heterogeneity in patients with familial partial lipodystrophy (dunnigan variety) related to the site of missense mutations in lamin a/c gene. J Clin Endocrinol Metab. 2001;86:59–65.
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 59-65
    • Garg, A.1    Vinaitheerthan, M.2    Weatherall, P.T.3    Bowcock, A.M.4
  • 24
    • 0034455698 scopus 로고    scopus 로고
    • Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety)
    • Garg A. Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety). J Clin Endocrinol Metab. 2000;85:1776–82.
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 1776-1782
    • Garg, A.1
  • 25
    • 0036098280 scopus 로고    scopus 로고
    • Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene
    • Garg A, Speckman RA, Bowcock AM. Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene. Am J Med. 2002;112:549–55.
    • (2002) Am J Med , vol.112 , pp. 549-555
    • Garg, A.1    Speckman, R.A.2    Bowcock, A.M.3
  • 26
    • 77954581091 scopus 로고    scopus 로고
    • Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations
    • Subramanyam L, Simha V, Garg A. Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations. Clin Genet. 2010;78:66–73.
    • (2010) Clin Genet , vol.78 , pp. 66-73
    • Subramanyam, L.1    Simha, V.2    Garg, A.3
  • 27
    • 0036171687 scopus 로고    scopus 로고
    • Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia
    • Simha V, Garg A. Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia. J Clin Endocrinol Metab. 2002;87:776–85.
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 776-785
    • Simha, V.1    Garg, A.2
  • 28
    • 12244293441 scopus 로고    scopus 로고
    • Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C
    • Novelli G, Muchir A, Sangiuolo F, et al. Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet. 2002;71:426–31.
    • (2002) Am J Hum Genet , vol.71 , pp. 426-431
    • Novelli, G.1    Muchir, A.2    Sangiuolo, F.3
  • 29
    • 0041919374 scopus 로고    scopus 로고
    • Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia
    • Agarwal AK, Fryns JP, Auchus RJ, Garg A. Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. Hum Mol Genet. 2003;12:1995–2001
    • (2003) Hum Mol Genet , vol.12 , pp. 1995-2001
    • Agarwal, A.K.1    Fryns, J.P.2    Auchus, R.J.3    Garg, A.4
  • 30
    • 38949105879 scopus 로고    scopus 로고
    • Phenotype and course of Hutchinson-Gilford progeria syndrome
    • Merideth MA, Gordon LB, Clauss S, et al. Phenotype and course of Hutchinson-Gilford progeria syndrome. N Engl J Med. 2008;358:592–604.
    • (2008) N Engl J Med , vol.358 , pp. 592-604
    • Merideth, M.A.1    Gordon, L.B.2    Clauss, S.3
  • 31
    • 28744453386 scopus 로고    scopus 로고
    • Phenotypic heterogeneity in body fat distribution in patients with atypical Werner’s syndrome due to heterozygous Arg133Leu lamin A/C mutation
    • Jacob KN, Baptista F, dos Santos HG, et al. Phenotypic heterogeneity in body fat distribution in patients with atypical Werner’s syndrome due to heterozygous Arg133Leu lamin A/C mutation. J Clin Endocrinol Metab. 2005;90:6699–706.
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 6699-6706
    • Jacob, K.N.1    Baptista, F.2    Dos Santos, H.G.3
  • 32
    • 34447341169 scopus 로고    scopus 로고
    • Body fat distribution and metabolic variables in patients with neonatal progeroid syndrome
    • O’Neill B, Simha V, Kotha V, Garg A. Body fat distribution and metabolic variables in patients with neonatal progeroid syndrome. Am J Med Genet A. 2007;143:1421–30.
    • (2007) Am J Med Genet A , vol.143 , pp. 1421-1430
    • O’Neill, B.1    Simha, V.2    Kotha, V.3    Garg, A.4
  • 33
    • 79953329358 scopus 로고    scopus 로고
    • Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3’ end of the FBN1 gene
    • Goldblatt J, Hyatt J, Edwards C, Walpole I. Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3’ end of the FBN1 gene. Am J Med Genet A. 2011;155A:717–20.
    • (2011) Am J Med Genet A , vol.155A , pp. 717-720
    • Goldblatt, J.1    Hyatt, J.2    Edwards, C.3    Walpole, I.4
  • 34
    • 78049297136 scopus 로고    scopus 로고
    • Marfan syndrome with neonatal progeroid syndromelike lipodystrophy associated with a novel frameshift mutation at the 3’ terminus of the FBN1-gene
    • Graul-Neumann LM, Kienitz T, Robinson PN, et al. Marfan syndrome with neonatal progeroid syndromelike lipodystrophy associated with a novel frameshift mutation at the 3’ terminus of the FBN1-gene. Am J Med Genet A. 2010;152A:2749–55.
    • (2010) Am J Med Genet A , vol.152A , pp. 2749-2755
    • Graul-Neumann, L.M.1    Kienitz, T.2    Robinson, P.N.3
  • 35
    • 79953324900 scopus 로고    scopus 로고
    • Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene
    • Horn D, Robinson PN. Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene. Am J Med Genet A. 2011;155A:721–4.
    • (2011) Am J Med Genet A , vol.155A , pp. 721-724
    • Horn, D.1    Robinson, P.N.2
  • 36
    • 84898916447 scopus 로고    scopus 로고
    • De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy
    • Garg A, Xing C. De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy. Am J Med Genet A. 2014;164A(5):1341–5.
    • (2014) Am J Med Genet A , vol.164A , Issue.5 , pp. 1341-1345
    • Garg, A.1    Xing, C.2
  • 37
    • 0020583122 scopus 로고
    • Autosomal dominant partial lipodystrophy associated with Rieger anomaly, short stature, and insulinopenic diabetes
    • Aarskog D, Ose L, Pande H, Eide N. Autosomal dominant partial lipodystrophy associated with Rieger anomaly, short stature, and insulinopenic diabetes. Am J Med Genet. 1983;15:29–38.
    • (1983) Am J Med Genet , vol.15 , pp. 29-38
    • Aarskog, D.1    Ose, L.2    Pande, H.3    Eide, N.4
  • 38
    • 0030052498 scopus 로고    scopus 로고
    • SHORT syndrome: A new case with probable autosomal dominant inheritance
    • Sorge G, Ruggieri M, Polizzi A, et al. SHORT syndrome: a new case with probable autosomal dominant inheritance. Am J Med Genet. 1996;61:178–81.
    • (1996) Am J Med Genet , vol.61 , pp. 178-181
    • Sorge, G.1    Ruggieri, M.2    Polizzi, A.3
  • 39
    • 84880251974 scopus 로고    scopus 로고
    • SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling
    • Chudasama KK, Winnay J, Johansson S, et al. SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. Am J Hum Genet. 2013;93:150–7.
    • (2013) Am J Hum Genet , vol.93 , pp. 150-157
    • Chudasama, K.K.1    Winnay, J.2    Johansson, S.3
  • 40
  • 41
    • 77956579857 scopus 로고    scopus 로고
    • An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis- associated lipodystrophy
    • Garg A, Hernandez MD, Sousa AB, et al. An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis- associated lipodystrophy. J Clin Endocrinol Metab. 2010;95:E58–63.
    • (2010) J Clin Endocrinol Metab , vol.95
    • Garg, A.1    Hernandez, M.D.2    Sousa, A.B.3
  • 42
    • 78649775528 scopus 로고    scopus 로고
    • PSMB8 encoding the beta5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome
    • Agarwal AK, Xing C, DeMartino GN, et al. PSMB8 encoding the beta5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. Am J Hum Genet. 2010;87:866–72.
    • (2010) Am J Hum Genet , vol.87 , pp. 866-872
    • Agarwal, A.K.1    Xing, C.2    Demartino, G.N.3
  • 43
    • 2442515965 scopus 로고    scopus 로고
    • Proteasome function in antigen presentation: Immunoproteasome complexes, Peptide production, and interactions with viral proteins
    • Rivett AJ, Hearn AR. Proteasome function in antigen presentation: immunoproteasome complexes, Peptide production, and interactions with viral proteins. Curr Protein Pept Sci. 2004;5:153–61.
    • (2004) Curr Protein Pept Sci , vol.5 , pp. 153-161
    • Rivett, A.J.1    Hearn, A.R.2
  • 44
    • 76249121423 scopus 로고    scopus 로고
    • Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome
    • Torrelo A, Patel S, Colmenero I, et al. Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome. J Am Acad Dermatol. 2010;62:489–95.
    • (2010) J am Acad Dermatol , vol.62 , pp. 489-495
    • Torrelo, A.1    Patel, S.2    Colmenero, I.3
  • 45
    • 80052836194 scopus 로고    scopus 로고
    • Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: A case report
    • 2010:epub ahead of print
    • Ramot Y, Czarnowicki T, Maly A, et al. Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a case report. Pediatr Dermatol. 2011;28(5)538–41 (2010:epub ahead of print).
    • (2011) Pediatr Dermatol , vol.28 , Issue.5 , pp. 538-541
    • Ramot, Y.1    Czarnowicki, T.2    Maly, A.3
  • 46
    • 77957820683 scopus 로고    scopus 로고
    • A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism
    • Shastry S, Simha V, Godbole K, et al. A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism. J Clin Endocrinol Metab. 2010;95:E192–7.
    • (2010) J Clin Endocrinol Metab , vol.95
    • Shastry, S.1    Simha, V.2    Godbole, K.3
  • 47
    • 84881025265 scopus 로고    scopus 로고
    • An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy
    • Weedon MN, Ellard S, Prindle MJ, et al. An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. Nat Genet. 2013;45:947–50.
    • (2013) Nat Genet , vol.45 , pp. 947-950
    • Weedon, M.N.1    Ellard, S.2    Prindle, M.J.3
  • 48
    • 36549038120 scopus 로고    scopus 로고
    • Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia
    • Peterfy M, Ben-Zeev O, Mao HZ, et al. Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia. Nat Genet. 2007;39:1483–7.
    • (2007) Nat Genet , vol.39 , pp. 1483-1487
    • Peterfy, M.1    Ben-Zeev, O.2    Mao, H.Z.3
  • 49
    • 0035018124 scopus 로고    scopus 로고
    • Adipose tissue fatty acid composition in humans with lipoprotein lipase deficiency
    • Ullrich NF, Purnell JQ, Brunzell JD. Adipose tissue fatty acid composition in humans with lipoprotein lipase deficiency. J Investig Med. 2001;49:273–5.
    • (2001) J Investig Med , vol.49 , pp. 273-275
    • Ullrich, N.F.1    Purnell, J.Q.2    Brunzell, J.D.3
  • 50
    • 0036833472 scopus 로고    scopus 로고
    • Lipodystrophy in human immunodeficiency virus-infected patients
    • Chen D, Misra A, Garg A. Lipodystrophy in human immunodeficiency virus-infected patients. J Clin Endocrinol Metab. 2002;87:4845–56.
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 4845-4856
    • Chen, D.1    Misra, A.2    Garg, A.3
  • 51
    • 0034457885 scopus 로고    scopus 로고
    • HIV protease inhibitor-related lipodystrophy syndrome
    • Carr A. HIV protease inhibitor-related lipodystrophy syndrome. Clin Infect Dis. 2000;30(Suppl 2):S135–42.
    • (2000) Clin Infect Dis , vol.30 , Issue.2
    • Carr, A.1
  • 52
    • 11344293751 scopus 로고    scopus 로고
    • Cardiovascular risk and bodyfat abnormalities in HIV-infected adults
    • Grinspoon S, Carr A. Cardiovascular risk and bodyfat abnormalities in HIV-infected adults. N Engl J Med. 2005;352:48–62.
    • (2005) N Engl J Med , vol.352 , pp. 48-62
    • Grinspoon, S.1    Carr, A.2
  • 53
    • 1542642958 scopus 로고    scopus 로고
    • Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: Report of 35 cases and review of the literature
    • Misra A, Peethambaram A, Garg A. Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: report of 35 cases and review of the literature. Medicine (Baltimore). 2004;83:18–34.
    • (2004) Medicine (Baltimore) , vol.83 , pp. 18-34
    • Misra, A.1    Peethambaram, A.2    Garg, A.3
  • 54
    • 0037339129 scopus 로고    scopus 로고
    • Clinical features and metabolic derangements in acquired generalized lipodystrophy: Case reports and review of the literature
    • Misra A, Garg A. Clinical features and metabolic derangements in acquired generalized lipodystrophy: case reports and review of the literature. Medicine. 2003;82:129–46.
    • (2003) Medicine , vol.82 , pp. 129-146
    • Misra, A.1    Garg, A.2
  • 56
    • 48349108128 scopus 로고    scopus 로고
    • HIVprotease inhibitors block the enzymatic activity of purified Ste24p
    • Hudon SE, Coffinier C, Michaelis S, et al. HIVprotease inhibitors block the enzymatic activity of purified Ste24p. Biochem Biophys Res Commun. 2008;374:365–8.
    • (2008) Biochem Biophys Res Commun , vol.374 , pp. 365-368
    • Hudon, S.E.1    Coffinier, C.2    Michaelis, S.3
  • 57
    • 0037161026 scopus 로고    scopus 로고
    • Association between altered expression of adipogenic factor SREBP1 in lipoatrophic adipose tissue from HIV-1-infected patients and abnormal adipocyte differentiation and insulin resistance
    • Bastard JP, Caron M, Vidal H, et al. Association between altered expression of adipogenic factor SREBP1 in lipoatrophic adipose tissue from HIV-1-infected patients and abnormal adipocyte differentiation and insulin resistance. Lancet. 2002;359:1026–31.
    • (2002) Lancet , vol.359 , pp. 1026-1031
    • Bastard, J.P.1    Caron, M.2    Vidal, H.3
  • 58
    • 0034008520 scopus 로고    scopus 로고
    • A syndrome of lipoatrophy, lactic acidaemia and liver dysfunction associated with HIV nucleoside analogue therapy: Contribution to protease inhibitor-related lipodystrophy syndrome
    • Carr A, Miller J, Law M, Cooper DA. A syndrome of lipoatrophy, lactic acidaemia and liver dysfunction associated with HIV nucleoside analogue therapy: contribution to protease inhibitor-related lipodystrophy syndrome. AIDS. 2000; 14:F25–32.
    • (2000) AIDS , vol.14 , pp. F25-F32
    • Carr, A.1    Miller, J.2    Law, M.3    Cooper, D.A.4
  • 59
    • 0346995096 scopus 로고    scopus 로고
    • Toxicity of nucleoside analogues used to treat AIDS and the selectivity of the mitochondrial DNA polymerase
    • Lee H, Hanes J, Johnson KA. Toxicity of nucleoside analogues used to treat AIDS and the selectivity of the mitochondrial DNA polymerase. Biochemistry. 2003;42:14711–9.
    • (2003) Biochemistry , vol.42 , pp. 14711-14719
    • Lee, H.1    Hanes, J.2    Johnson, K.A.3
  • 60
    • 33645500068 scopus 로고    scopus 로고
    • Lipodystrophy: Lessons in lipid and energy metabolism
    • Simha V, Garg A. Lipodystrophy: lessons in lipid and energy metabolism. Curr Opin Lipidol. 2006;17:162–9.
    • (2006) Curr Opin Lipidol , vol.17 , pp. 162-169
    • Simha, V.1    Garg, A.2
  • 61
    • 14844304398 scopus 로고    scopus 로고
    • Reduced adiponectin and HDL cholesterol without elevated C-reactive protein: Clues to the biology of premature atherosclerosis in Hutchinson-Gilford Progeria Syndrome
    • Gordon LB, Harten IA, Patti ME, Lichtenstein AH. Reduced adiponectin and HDL cholesterol without elevated C-reactive protein: clues to the biology of premature atherosclerosis in Hutchinson-Gilford Progeria Syndrome. J Pediatr. 2005;146:336–41.
    • (2005) J Pediatr , vol.146 , pp. 336-341
    • Gordon, L.B.1    Harten, I.A.2    Patti, M.E.3    Lichtenstein, A.H.4
  • 62
    • 0042736696 scopus 로고    scopus 로고
    • LMNA mutations in atypical Werner’s syndrome
    • Chen L, Lee L, Kudlow BA, et al. LMNA mutations in atypical Werner’s syndrome. Lancet. 2003;362:440–5.
    • (2003) Lancet , vol.362 , pp. 440-445
    • Chen, L.1    Lee, L.2    Kudlow, B.A.3
  • 63
    • 33644827082 scopus 로고    scopus 로고
    • Overproduction of large VLDL particles is driven by increased liver fat content in man
    • Adiels M, Taskinen MR, Packard C, et al. Overproduction of large VLDL particles is driven by increased liver fat content in man. Diabetologia. 2006;49:755–65.
    • (2006) Diabetologia , vol.49 , pp. 755-765
    • Adiels, M.1    Taskinen, M.R.2    Packard, C.3
  • 64
  • 65
    • 48749110651 scopus 로고    scopus 로고
    • Lipid droplets: A classic organelle with new outfits
    • Fujimoto T, Ohsaki Y, Cheng J, et al. Lipid droplets: a classic organelle with new outfits. Histochem Cell Biol. 2008;130:263–79.
    • (2008) Histochem Cell Biol , vol.130 , pp. 263-279
    • Fujimoto, T.1    Ohsaki, Y.2    Cheng, J.3
  • 66
    • 38049184643 scopus 로고    scopus 로고
    • The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology
    • Szymanski KM, Binns D, Bartz R, et al. The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology. Proc Natl Acad Sci U S A. 2007;104:20890–95.
    • (2007) Proc Natl Acad Sci U S A , vol.104 , pp. 20890-20895
    • Szymanski, K.M.1    Binns, D.2    Bartz, R.3
  • 67
    • 39049151385 scopus 로고    scopus 로고
    • Fld1p, a functional homologue of human seipin, regulates the size of lipid droplets in yeast
    • Fei W, Shui G, Gaeta B, et al. Fld1p, a functional homologue of human seipin, regulates the size of lipid droplets in yeast. J Cell Biol. 2008;180:473–82.
    • (2008) J Cell Biol , vol.180 , pp. 473-482
    • Fei, W.1    Shui, G.2    Gaeta, B.3
  • 68
    • 2342510295 scopus 로고    scopus 로고
    • Role of caveolin- 1 in the modulation of lipolysis and lipid droplet formation
    • Cohen AW, Razani B, Schubert W, et al. Role of caveolin- 1 in the modulation of lipolysis and lipid droplet formation. Diabetes. 2004;53:1261–70.
    • (2004) Diabetes , vol.53 , pp. 1261-1270
    • Cohen, A.W.1    Razani, B.2    Schubert, W.3
  • 69
    • 33745844829 scopus 로고    scopus 로고
    • Cholesterol- induced caveolin targeting to lipid droplets in adipocytes: A role for caveolar endocytosis
    • Le Lay S, Hajduch E, Lindsay MR, et al. Cholesterol- induced caveolin targeting to lipid droplets in adipocytes: a role for caveolar endocytosis. Traffic. 2006;7:549–61.
    • (2006) Traffic , vol.7 , pp. 549-561
    • Le Lay, S.1    Hajduch, E.2    Lindsay, M.R.3
  • 70
    • 58749091644 scopus 로고    scopus 로고
    • Molecular mechanisms of hepatic steatosis and insulin resistance in the AGPAT2-deficient mouse model of congenital generalized lipodystrophy
    • Cortes VA, Curtis DE, Sukumaran S, et al. Molecular mechanisms of hepatic steatosis and insulin resistance in the AGPAT2-deficient mouse model of congenital generalized lipodystrophy. Cell Metab. 2009;9:165–76.
    • (2009) Cell Metab , vol.9 , pp. 165-176
    • Cortes, V.A.1    Curtis, D.E.2    Sukumaran, S.3
  • 71
    • 0023932658 scopus 로고
    • Metabolic studies in lipoatrophic diabetes: Mechanism of hyperglycemia and evidence of resistance to insulin of lipid metabolism
    • Beylot M, Sautot G, Laville M, Cohen R. Metabolic studies in lipoatrophic diabetes: mechanism of hyperglycemia and evidence of resistance to insulin of lipid metabolism. Diabete Metab. 1988;14:20–4.
    • (1988) Diabete Metab , vol.14 , pp. 20-24
    • Beylot, M.1    Sautot, G.2    Laville, M.3    Cohen, R.4
  • 72
    • 61749100743 scopus 로고    scopus 로고
    • Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis
    • Semple RK, Sleigh A, Murgatroyd PR, et al. Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis. J Clin Invest. 2009;119:315–22.
    • (2009) J Clin Invest , vol.119 , pp. 315-322
    • Semple, R.K.1    Sleigh, A.2    Murgatroyd, P.R.3
  • 73
    • 0037148928 scopus 로고    scopus 로고
    • Leptin-replacement therapy for lipodystrophy
    • Oral EA, Simha V, Ruiz E, et al. Leptin-replacement therapy for lipodystrophy. N Engl J Med. 2002;346:570–8.
    • (2002) N Engl J Med , vol.346 , pp. 570-578
    • Oral, E.A.1    Simha, V.2    Ruiz, E.3
  • 74
    • 77956576248 scopus 로고    scopus 로고
    • Effects of tesamorelin (TH9507), a growth hormone-releasing factor analog, in human immunodeficiency virusinfected patients with excess abdominal fat: A pooled analysis of two multicenter, double-blind placebocontrolled phase 3 trials with safety extension data
    • Falutz J, Mamputu JC, Potvin D, et al. Effects of tesamorelin (TH9507), a growth hormone-releasing factor analog, in human immunodeficiency virusinfected patients with excess abdominal fat: a pooled analysis of two multicenter, double-blind placebocontrolled phase 3 trials with safety extension data. J Clin Endocrinol Metab. 2010;95:4291–304.
    • (2010) J Clin Endocrinol Metab , vol.95 , pp. 4291-4304
    • Falutz, J.1    Mamputu, J.C.2    Potvin, D.3
  • 75
    • 0034663140 scopus 로고    scopus 로고
    • Efficacy and safety of troglitazone in the treatment of lipodystrophy syndromes
    • Arioglu E, Duncan-Morin J, Sebring N, et al. Efficacy and safety of troglitazone in the treatment of lipodystrophy syndromes. Ann Intern Med. 2000;133:263–74.
    • (2000) Ann Intern Med , vol.133 , pp. 263-274
    • Arioglu, E.1    Duncan-Morin, J.2    Sebring, N.3
  • 76
    • 27844530578 scopus 로고    scopus 로고
    • Long-term treatment experience in a subject with Dunnigan-type familial partial lipodystrophy: Efficacy of rosiglitazone
    • Ludtke A, Heck K, Genschel J, et al. Long-term treatment experience in a subject with Dunnigan-type familial partial lipodystrophy: efficacy of rosiglitazone. Diabet Med. 2005;22:1611–3.
    • (2005) Diabet Med , vol.22 , pp. 1611-1613
    • Ludtke, A.1    Heck, K.2    Genschel, J.3
  • 77
    • 38449091246 scopus 로고    scopus 로고
    • Efficacy and safety of pioglitazone in treatment of a patient with an atypical partial lipodystrophy syndrome
    • Sleilati GG, Leff T, Bonnett JW, Hegele RA. Efficacy and safety of pioglitazone in treatment of a patient with an atypical partial lipodystrophy syndrome. Endocr Pract. 2007;13:656–61.
    • (2007) Endocr Pract , vol.13 , pp. 656-661
    • Sleilati, G.G.1    Leff, T.2    Bonnett, J.W.3    Hegele, R.A.4
  • 78
    • 53249092413 scopus 로고    scopus 로고
    • Monogenic polycystic ovary syndrome due to a mutation in the lamin A/C gene is sensitive to thiazolidinediones but not to metformin
    • Gambineri A, Semple RK, Forlani G, et al. Monogenic polycystic ovary syndrome due to a mutation in the lamin A/C gene is sensitive to thiazolidinediones but not to metformin. Eur J Endocrinol/Eur Federation Endocr Soc. 2008;159:347–53.
    • (2008) Eur J Endocrinol/Eur Federation Endocr Soc , vol.159 , pp. 347-353
    • Gambineri, A.1    Semple, R.K.2    Forlani, G.3
  • 79
    • 0642312212 scopus 로고    scopus 로고
    • Response to treatment with rosiglitazone in familial partial lipodystrophy due to a mutation in the LMNA gene
    • Owen KR, Donohoe M, Ellard S, Hattersley AT. Response to treatment with rosiglitazone in familial partial lipodystrophy due to a mutation in the LMNA gene. Diabet Med. 2003;20:823–7.
    • (2003) Diabet Med , vol.20 , pp. 823-827
    • Owen, K.R.1    Donohoe, M.2    Ellard, S.3    Hattersley, A.T.4
  • 80
    • 55449132035 scopus 로고    scopus 로고
    • Prolonged thiazolidinedione therapy does not reverse fat loss in patients with familial partial lipodystrophy, Dunnigan variety. Diabetes
    • Simha V, Rao S, Garg A. Prolonged thiazolidinedione therapy does not reverse fat loss in patients with familial partial lipodystrophy, Dunnigan variety. Diabetes, Obes Metab. 2008; 10:1275–6.
    • (2008) Obes Metab , vol.10 , pp. 1275-1276
    • Simha, V.1    Rao, S.2    Garg, A.3
  • 81
    • 0344375097 scopus 로고    scopus 로고
    • Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator- activated receptor-g
    • Savage DB, Tan GD, Acerini CL, et al. Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator- activated receptor-g. Diabetes. 2003;52:910–7.
    • (2003) Diabetes , vol.52 , pp. 910-917
    • Savage, D.B.1    Tan, G.D.2    Acerini, C.L.3
  • 82
    • 21344447493 scopus 로고    scopus 로고
    • Long-term efficacy of leptin replacement in patients with generalized lipodystrophy
    • Javor ED, Cochran EK, Musso C, et al. Long-term efficacy of leptin replacement in patients with generalized lipodystrophy. Diabetes. 2005;54:1994–2002.
    • (2005) Diabetes , vol.54 , pp. 1994-2002
    • Javor, E.D.1    Cochran, E.K.2    Musso, C.3
  • 83
    • 33846950833 scopus 로고    scopus 로고
    • Efficacy and safety of leptin-replacement therapy and possible mechanisms of leptin actions in patients with generalized lipodystrophy
    • Ebihara K, Kusakabe T, Hirata M, et al. Efficacy and safety of leptin-replacement therapy and possible mechanisms of leptin actions in patients with generalized lipodystrophy. J Clin Endocrinol Metab. 2007;92:532–41.
    • (2007) J Clin Endocrinol Metab , vol.92 , pp. 532-541
    • Ebihara, K.1    Kusakabe, T.2    Hirata, M.3
  • 84
    • 33947283865 scopus 로고    scopus 로고
    • Long-term efficacy of leptin replacement in patients with Dunnigan- type familial partial lipodystrophy
    • Park JY, Javor ED, Cochran EK, et al. Long-term efficacy of leptin replacement in patients with Dunnigan- type familial partial lipodystrophy. Metabolism. 2007;56:508–16.
    • (2007) Metabolism , vol.56 , pp. 508-516
    • Park, J.Y.1    Javor, E.D.2    Cochran, E.K.3
  • 85
    • 4544286790 scopus 로고    scopus 로고
    • Effects of exogenous leptin on satiety and satiation in patients with lipodystrophy and leptin insufficiency
    • McDuffie JR, Riggs PA, Calis KA, et al. Effects of exogenous leptin on satiety and satiation in patients with lipodystrophy and leptin insufficiency. J Clin Endocrinol Metab. 2004;89:4258–63.
    • (2004) J Clin Endocrinol Metab , vol.89 , pp. 4258-4263
    • McDuffie, J.R.1    Riggs, P.A.2    Calis, K.A.3
  • 86
    • 0036114844 scopus 로고    scopus 로고
    • Leptin reverses insulin resistance and hepatic steatosis in patients with severe lipodystrophy
    • Petersen KF, Oral EA, Dufour S, et al. Leptin reverses insulin resistance and hepatic steatosis in patients with severe lipodystrophy. J Clin Invest. 2002;109:1345–50.
    • (2002) J Clin Invest , vol.109 , pp. 1345-1350
    • Petersen, K.F.1    Oral, E.A.2    Dufour, S.3
  • 87
    • 0043172530 scopus 로고    scopus 로고
    • Effect of leptin replacement on intrahepatic and intramyocellular lipid content in patients with generalized lipodystrophy
    • Simha V, Szczepaniak LS, Wagner AJ, et al. Effect of leptin replacement on intrahepatic and intramyocellular lipid content in patients with generalized lipodystrophy. Diabetes Care. 2003;26:30–35.
    • (2003) Diabetes Care , vol.26 , pp. 30-35
    • Simha, V.1    Szczepaniak, L.S.2    Wagner, A.J.3
  • 88
    • 16244363679 scopus 로고    scopus 로고
    • Leptin reverses nonalcoholic steatohepatitis in patients with severe lipodystrophy
    • Javor ED, Ghany MG, Cochran EK, et al. Leptin reverses nonalcoholic steatohepatitis in patients with severe lipodystrophy. Hepatology. 2005;41:753–60
    • (2005) Hepatology , vol.41 , pp. 753-760
    • Javor, E.D.1    Ghany, M.G.2    Cochran, E.K.3


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