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Familial Hypercholesterolemia: The Most Frequent Cholesterol Metabolism Disorder Caused Disease
(MDPI, 2018-11-01)
Cholesterol is an essential component of cell barrier formation and signaling transduction involved in many essential physiologic processes. For this reason, cholesterol metabolism must be tightly controlled. Cell cholesterol ...
Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants
(MDPI, 2018-06)
Familial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by high blood-cholesterol levels mostly caused by mutations in the low-density lipoprotein receptor (LDLr). With a prevalence as high as ...
Characterization of the Intrinsic Phospholipase A1 Activity of Bordetella pertussis Adenylate Cyclase Toxin
(MDPI, 2018-12-04)
Adenylate cyclase toxin (ACT, CyaA) is one of the important virulence factors secreted by the whooping cough bacterium Bordetella pertussis, and it is essential for the colonization of the human respiratory tract by this ...
Determinación estructural de virión del Virus del mosaico de la sandia por crío-microscopía electrónica
(2018-09-14)
Los virus filamentosos flexibles constituyen uno de los mayores grupos de patógenos de plantas con un impacto en la agricultura muy relevante. Estos virus con genoma (+)ssRNA presentan viriones filamentosos flexibles con ...
Ubiquitylation Dynamics of the Clock Cell Proteome and TIMELESS During a Circadian Cycle
(Cell Press, 2018-05-22)
Circadian clocks have evolved as time-measuring molecular devices to help organisms adapt their physiology to daily changes in light and temperature. Transcriptional oscillations account for a large fraction of rhythmic ...
The role of the Wnt receptor frizzled-8 in prostate cancer pathogenesis.
(2018-11-30)
Wnt-11 es un miembro no canónico de la familia de Wnt que se observa altamente expresado en líneas celulares de cáncer de próstata, así como en tumores de próstata. Wnt-11 promueve la migración y la invasión celular lo que ...
Structural basis for substrate recognition and catalysis of the mycobacterial acyltransferase pata
(2018-02-22)
Los glicolípidos desempeñan un papel central en una variedad de procesos biológicos importantes en todos los organismos vivos. PatA es una aciltransferasa asociada a la membrana implicada en la biosíntesis de fosfatidil- ...
In vitro characterization of LDLR, PCSK9 and APOB variants as a tool to understand molecular aspects of familial hypercholesterolemia and improving genetic diagnosis.
(2018-12-19)
La hipercolesterolemia familiar es una enfermedad genética autosómica dominante que se caracteriza por unos niveles altos de colesterol en plasma. Este colesterol, con el tiempo se acumula en las paredes vasculares y ...
Replacement of Cysteine at Position 46 in the First Cysteine-Rich Repeat of the LDL Receptor
(Public Library Science, 2018-10-17)
Background and aims
Pathogenic mutations in the Low Density Lipoprotein Receptor gene (LDLR) cause Familial Hypercholesterolemia (FH), one of the most common genetic disorders with a prevalence as high as 1 in 200 in ...
Characterization of wnt signaling in tamoxifen resistant breast cancer stem/progenitor cells
(2018-12-20)
El tamoxifen, un antagonista de ER, es el tratamiento más común empleado para tratar a pacientes que expresan ER. Las células resistentes a tamoxifen están enriquecidas en células madre/progenitoras. La expresión de WNT1 ...