| Title |
Familial hypobetalipoproteinemia: genetics and metabolism
|
|---|---|
| Published in |
Cellular and Molecular Life Sciences, April 2005
|
| DOI | 10.1007/s00018-005-4473-0 |
| Pubmed ID | |
| Authors |
G. Schonfeld, X. Lin, P. Yue |
| Abstract |
Familial hypobetalipoproteinemia (FHBL), an autosomal dominant disorder, is defined as <5th percentile LDL-cholesterol or apolipoprotein (apo) B in the plasma. FHBL subjects are generally heterozygous and asymptomatic. Three genetic forms exist: (i) premature stop codon specifying mutations of APOB; (ii) FHBL linked to a susceptibility locus on the chromosome 3p21; and (iii) FHBL linked neither to APOB nor to the chromosome 3p21. In heterozygous apoB-defective FHBL, the hepatic VLDL export system is defective because apoB 100, the product of the normal allele, is produced at approximately 25% of normal rate, and truncated apoB is cleared too rapidly. The reduced capacity for hepatic triglyceride export increases hepatic fat three-fold. Indexes of adiposity and insulin action are similar to controls. 'Knock-in' mouse models of apoB truncations resemble human FHBL phenotypes. Liver fat in the chromosome 3p21-linked FHBL is normal. Elucidation of the genetic basis of the non-apoB FHBL could uncover attractive targets for lipid-lowering therapy. (See note added in proof.). |
Mendeley readers
The data shown below were compiled from readership statistics for 42 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 2% |
| Unknown | 41 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 7 | 17% |
| Researcher | 5 | 12% |
| Student > Bachelor | 5 | 12% |
| Student > Postgraduate | 5 | 12% |
| Student > Master | 4 | 10% |
| Other | 9 | 21% |
| Unknown | 7 | 17% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 11 | 26% |
| Agricultural and Biological Sciences | 10 | 24% |
| Biochemistry, Genetics and Molecular Biology | 9 | 21% |
| Immunology and Microbiology | 2 | 5% |
| Nursing and Health Professions | 1 | 2% |
| Other | 2 | 5% |
| Unknown | 7 | 17% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 13 May 2008.
All research outputs
#7,845,540
of 23,794,258 outputs
Outputs from Cellular and Molecular Life Sciences
#1,655
of 4,151 outputs
Outputs of similar age
#21,395
of 60,702 outputs
Outputs of similar age from Cellular and Molecular Life Sciences
#17
of 37 outputs
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So far Altmetric has tracked 4,151 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.0. This one is in the 38th percentile – i.e., 38% of its peers scored the same or lower than it.
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