The DOI matches its Crossref record; 54 of the 64 references it cites were found in a registry or an index.
E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles
Abstract
Lipoprotein lipase (LPL) is the rate-limiting enzyme for the hydrolysis of triglyceride-rich lipoproteins. Numerous LPL gene mutations have been described as a cause of familial chylomicronemia in various populations. In general, allelic heterogeneity is observed in LPL deficiency in different populations. However, a founder effect has been reported in certain populations, such as French Canadians. Although familial chylomicronemia is observed in Morocco, the molecular basis for the disease remains unknown. Here, we report two unrelated Moroccan families of Berber ancestry, ascertained independently in Holland and France. In both probands, familial chylomicronemia manifested in infancy and was complicated with acute pancreatitis at age 2 years. Both probands were homozygous for a Ser259Arg mutation, which results in the absence of LPL catalytic activity both in vivo and in vitro. In heterozygous relatives, a partial decrease in plasma LPL activity was observed, sometimes associated with combined hyperlipidemia. This mutation previously unreported in other populations segregated on an identical haplotype, rarely observed in Caucasians, in both families. Therefore, LPL deficiency is a cause of familial chylomicronemia in Morocco and may result from a founder effect in patients of Berber ancestry
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“The first study using data from 31 E280A mutation carriers of the Paisa pedigree found nonsignificant effects of APOE variants on the ADAOO.41”
From APOE*E2 allele delays age of onset in PSEN1 E280A Alzheimer’s disease (2016) · cites this paper as [41]
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Metadata
- Authors
- Lendon, C. L., Martinez, A., Behrens, I. M., Kosik, K. S., Madrigal, L., Norton, J., Neuman, R., Myers, A., Busfield, F., Wragg, M., Arcos, M., Viana, J. C. A., Ossa, J., Ruiz, A., Goate, A. M., & Lopera, F.
- Venue
- Human Mutation
- Publisher
- Hindawi Limited
- Published
- 1997
- Volume
- 10
- Issue
- 3
- Pages
- 186-195
- OpenAlex
- W7131827590
- Cited by
- 0
- References
- 61
- FWCI
- 0.00
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Pure Amsterdam UMC (publishedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Health Sciences › Medicine › Surgery › Lymphatic Disorders and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Lipid metabolism and biosynthesis
- Keywords
- lipoprotein lipase deficiency, familial chylomicronemia, LPL gene, founder effect, acute pancreatitis, mixed dyslipidemia, haplotypes, Moroccan families
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