2003
DOI: 10.1590/s0066-782x2003000500010
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Abstract: Alterações no gene da apolipoproteína BO gene da apolipoproteína B (APOB) está situado no cromossomo 2. Nele já foram descritas algumas mutações e vários polimorfismos.As principais mutações são: R3500Q (troca de arginina pela glutamina), R3500W (troca de arginina pelo triptofano), R3531C (troca de arginina por cisteína), Q3405E (troca de glutamina por glutamato) e R3480P (troca de arginina por prolina). Recentemente, foram descritas as mutações N3516K (troca de asparagina por lisina) e T3492I (troca de treoni… Show more

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Cited by 7 publications
(8 citation statements)
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“…Apo E is also important for the catabolism of TG-rich lipoproteins and reverse cholesterol transport in various tissues [79], which involves its binding to LDLR and the apo E hepatic receptor, the activation of enzymes including hepatic lipase, and hepatic production of VLDL-C [80, 81]. The LDLR in the liver can clear both LDL- and apo E-containing lipoproteins, but the LRP-mediated clearance of remnants is absolutely dependent on apo E [82].…”
Section: Genetic Polymorphisms Associated With Dyslipidemiamentioning
confidence: 99%
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“…Apo E is also important for the catabolism of TG-rich lipoproteins and reverse cholesterol transport in various tissues [79], which involves its binding to LDLR and the apo E hepatic receptor, the activation of enzymes including hepatic lipase, and hepatic production of VLDL-C [80, 81]. The LDLR in the liver can clear both LDL- and apo E-containing lipoproteins, but the LRP-mediated clearance of remnants is absolutely dependent on apo E [82].…”
Section: Genetic Polymorphisms Associated With Dyslipidemiamentioning
confidence: 99%
“…The apo E gene is located on the long arm of chromosome 19 and encodes a protein of 299 amino acids [79]. According to Andrade and Hutz [1], the apo E gene exerts a strong influence on the serum levels of LDL-C.…”
Section: Genetic Polymorphisms Associated With Dyslipidemiamentioning
confidence: 99%
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“…Avaliar a relação das diferentes variantes encontradas por ultrassequenciamento em pacientes com HF é de grande importância para compreender os mecanismos pelos quais as variações genéticas influenciam na concentração de colesterol e consequentemente o processo patológico desta doença (FORTI et al, 2003;SILVA et al, 2012). Recentemente um grupo identificou que apenas cerca de 8% das variantes no LDLR identificadas no banco de dados ClinVar são completamente caracterizadas por estudos in vitro (CHORA et al, 2018).…”
Section: Com O Avanço Dos Estudos De Associação Do Genoma Completo (Gunclassified