EurekaMag.com logo
+ Site Statistics
References:
48,253,228
Abstracts:
22,798,842
+ Resolve Accession
+ Subscribe to Site Feeds
EurekaMag Most Shared ContentMost Shared
EurekaMag PDF Full Text ContentPDF Full Text
+ PDF Full Text
Request PDF Full TextRequest PDF Full Text
Submit PDF Full TextSubmit PDF Full Text
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter
Follow on Google+Follow on Google+
Follow on LinkedInFollow on LinkedIn

+ Translate

The low density lipo protein receptor locus in familial hyper cholesterolemia multiple mutations disrupt transport and processing of a membrane receptor


, : The low density lipo protein receptor locus in familial hyper cholesterolemia multiple mutations disrupt transport and processing of a membrane receptor. Cell 32(3): 941-952

The receptor for low-density lipoprotein (LDL) is synthesized as a 120 kd [kilodalton] precursor that undergoes a 40 kd posttranslational increase in apparent MW en route to the cell surface. Seven mutations are described that disrupt synthesis, processing and transport of the receptor in fibroblasts from 77 subjects with the clinical diagnosis of homozygous familial hypercholesterolemia. One mutation obliterates synthesis of immunoprecipitable precursor. Three mutations specify precursors (100, 120 and 135 kd) that fail to undergo normal processing and fail to reach the cell surface. The other 3 mutations specify precursors (100, 120 and 170 kd) that undergo a normal 40 kd increase in MW and reach the surface, but do not bind LDL normally. Each mutation segregates as an allele at the LDL receptor locus. Signals for transport of receptors from endoplasmic reticulum to the cell surface are evidently contained within the amino acid sequences of the receptors, and mutations affecting these sequences can disrupt receptor transport.

(PDF 0-2 workdays service)

Order PDF Full Text

Close
Close

Click here to order any other PDF Full Text


Accession: 006712207

PDF Full Text: Submit


Submit PDF Full Text

No spam - Every submission is manually reviewed

Due to poor quality, we do not accept files from Researchgate

Submitted PDF Full Texts will always be free for everyone
(We only charge for PDFs that we need to acquire)

Select a PDF file:
Close
Close

Other references

Afkhami, A.; Madrakian, T.; Bozorgzadeh, E.; Bahram, M., 2007: Spectrophotometric determination of beryllium in water samples after micelle-mediated extraction preconcentration. A new micelle-mediated phase preconcentration method for preconcentration of ultra-trace quantities of beryllium as a prior step to its determination by spectrophotometry has been developed. Chrome Azurol S (CAS) and cetyltrimethylammonium bromide...

Mendgen K.; Casper R., 1980: Detection of verticillium lecanii in pustules of bean rust uromyces phaseoli by immuno fluorescence. V. lecanii, originally isolated from uredial pustules of wheat stripe rust (Puccinia striiformis) was used to inoculate the pustules of bean rust (U. phaseoli). An antiserum prepared against V. lecanii, reacted specifically with the V. lecanii hyp...

Buynder, M. van, 1994: V-hedges in the Agriculture and Horticulture Centre for Waasland. The advantages and disadvantages of the traditional slender spindlebush [apple and pear] orchard system in single- or multi-rows and V-hedge systems are discussed. Details are given of the construction of V-hedge systems and of planting distances...

Zwart, A.; Luijendijk, S. C. M.; De-Vries, W. R., 1986: Excretion retention data of steady state gas exchange in tidal breathing ii. dependency on the diffusion coefficient. The steady state gas transfer properties of the lung can be derived from excretion-retention (E-R) data of inert tracer gases that are infused intravenously. E = P.hivin.E/P.hivin.V and R = Pa/P.hivin.V, where P.hivin.E, Pa and P.hivin.V represent...

Masse L., 1969: Some aspects of enzymatic uricolysis in lichens. Comptes Rendus Hebdomadaires des Seances de l'Academie des Sciences Serie D Sciences Naturelles 268(24): 2896-2898

Chigot J.P., 1984: Parathyroid surgery postoperative hypoparathyroidism. Revue Francaise d'Endocrinologie Clinique Nutrition et Metabolisme 25(1): 67-69

Auerswald, K., 1983: Determination of relative soil removal by means of rain simulation. Rainfall simulation experiments on soil following the harvest of winter barley or rapeseed crops showed a low degree of soil erosion (relative soil removal 1-3%), which was not greatly increased by cultivation (4-10%). Applying fertilizers, by imp...

Martin, G.; Juchault, P.; Sorokine, O.; Van-Dorsselaer, A., 1990: Purification and characterization of androgenic hormone from the terrestrial isopod armadillidium vulgare latr. crustacea oniscidea. Androgenic hormone (AH) was purified from hypertrophied androgenic glands of intersexed A. vulgare (genetic males feminized by symbiotic endocellular bacteria). Two isohormones labeled AH1 and AH2 with similar molecular weights in the range 17,000...

Cicin, N. V., 1954: Ways of creating new cultivated plants (distant hybridization. The Micurinist basis of wide crossing is expounded, together with the advantages of Agropyron as a source of characters for improving cultivated wheat. Reference is made to hybrid 22850, which is free from lodging and shedding, extremely high in m...

Torres, Keila; Shen, Heng Jia; Yang, Chia Ping; Burkhart, Catherine; Horwitz, Susan B., 1999: Translation of taxol-induced Raf-1 kinase activation into stathmin phosphorylation and reorganization of the microtubule cytoskeleton. Molecular Biology of the Cell 10(SUPPL ): 264a, Nov