The DOI matches its Crossref record; 26 of the 26 references it cites were found in a registry or an index.
Perilipin Deficiency and Autosomal Dominant Partial Lipodystrophy
Open accessAbstract
Perilipin is the most abundant adipocyte-specific protein that coats lipid droplets, and it is required for optimal lipid incorporation and release from the droplet. We identified two heterozygous frameshift mutations in the perilipin gene (PLIN1) in three families with partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes. Subcutaneous fat from the patients was characterized by smaller-than-normal adipocytes, macrophage infiltration, and fibrosis. In contrast to wild-type perilipin, mutant forms of the protein failed to increase triglyceride accumulation when expressed heterologously in preadipocytes. These findings define a novel dominant form of inherited lipodystrophy and highlight the serious metabolic consequences of a primary defect in the formation of lipid droplets in adipose tissue.
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Absence of perilipin results in leanness and reverses obesity in Leprdb/db mice
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Insulin action and resistance in obesity and type 2 diabetes
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Ectopic Fat in Insulin Resistance, Dyslipidemia, and Cardiometabolic Disease
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Genetics of blood lipids among ∼300,000 multi-ethnic participants of the Million Veteran Program
Global Lipids Genetics Consortium, Klarin, D., Myocardial Infarction Genetics (MIGen) Consortium, The Geisinger-Regeneron DiscovEHR Collaboration, Program, T. V. M. V., Damrauer, S. M., Cho, K., Sun, Y. V., Teslovich, T. M., Honerlaw, J., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0222-9 · Cited by 625
Causes, Characteristics, and Consequences of Metabolically Unhealthy Normal Weight in Humans
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Diagnosis and treatment of lipodystrophy: a step-by-step approach
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Metadata
- Authors
- Gandotra, S., Le Dour, C., Bottomley, W., Cervera, P., Giral, P., Reznik, Y., Charpentier, G., Auclair, M., Delépine, M., Barroso, I., Semple, R. K., Lathrop, M., Lascols, O., Capeau, J., O'Rahilly, S., Magré, J., Savage, D. B., & Vigouroux, C.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2011-02-24
- Volume
- 364
- Issue
- 8
- Pages
- 740-748
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W1995729577
- Cited by
- 310
- References
- 26
- FWCI
- 9.17
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Gandotra, S., Le Dour, C., Bottomley, W., Cervera, P., Giral, P., Reznik, Y., Charpentier, G., Auclair, M., Delépine, M., Barroso, I., Semple, R. K., Lathrop, M., Lascols, O., Capeau, J., O'Rahilly, S., Magré, J., Savage, D. B., & Vigouroux, C. (2011). Perilipin Deficiency and Autosomal Dominant Partial Lipodystrophy. New England Journal of Medicine. https://doi.org/10.1056/nejmoa1007487
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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