2020
DOI: 10.3390/ijms21072430
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Evaluation of the Potential Role of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Niemann–Pick Disease, Type C1

Abstract: Niemann–Pick disease, type C1, is a cholesterol storage disease where unesterified cholesterol accumulates intracellularly. In the cerebellum this causes neurodegeneration of the Purkinje neurons that die in an anterior-to-posterior and time-dependent manner. This results in cerebellar ataxia as one of the major outcomes of the disease. Proprotein convertase subtilisin/kexin type 9 (PCSK9) plays a significant role in the regulation of serum cholesterol levels by modulating LDL receptor levels on peripheral tis… Show more

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Cited by 7 publications
(3 citation statements)
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“…S1 " type="url"/> depicts the composite phenotype scores over time for three different mixed backgrounds of the Npc1 m1N model ( , reproduced from Cawley et al, 2020 ). Additionally, …”
Section: Discussionmentioning
confidence: 99%
“…S1 " type="url"/> depicts the composite phenotype scores over time for three different mixed backgrounds of the Npc1 m1N model ( , reproduced from Cawley et al, 2020 ). Additionally, …”
Section: Discussionmentioning
confidence: 99%
“…In mice, the outcome of a given mutation varies with the genetic background of strains [37,135,[215][216][217][218]. Numerous double mutant mice have been created to test whether and how specific candidate genes impact the disease [163,173,177,190,191,[219][220][221][222][223][224][225][226][227][228][229][230][231][232][233][234][235]. Sex-dependent differences in behavior [236], life span [37,134], and responses to immune activation [237] and to potential therapies [171,238] were reported in some NPC1 mutant mice, raising the question of whether sex is a modifying factor in NPC disease [37] as in other cholesterol-related pathologies [239][240][241][242] and normal cholesterol homeostasis [243,244].…”
Section: Mammalian Modelsmentioning
confidence: 99%
“…In addition, lipid-lowering is not the only function of PCSK9 inhibitors. Existing studies suggest that PCSK9 inhibitors have potential application value in the treatment of sepsis, some tumors, some viral infections, and other diseases [20][21][22][23][24]. Whether they can bring more clinical benefits needs to be confirmed by further studies.…”
Section: Introductionmentioning
confidence: 99%