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CALABRESI , Laura

Last name: CALABRESI

First name: Laura

2015 (v1)

Publication

Metadata-only

A complex phenotype in a child with familial HDL deficiency due to a novel frameshift mutation in APOA1 gene (apoA-IGuastalla)

PISCIOTTA, LIVIA Vitali, Cecilia Favari, Elda

BACKGROUND: We describe a kindred with high-density lipoprotein (HDL) deficiency due to APOA1 gene mutation in which comorbidities affected the phenotypic expression of the disorder. METHODS: An overweight boy with hypertriglyceridemia (HTG) and HDL deficiency (HDL cholesterol 0.39 mmol/L, apoA-I 40 mg/dL) was investigated. We sequenced...

Uploaded on: April 14, 2023
2018 (v1)

Publication

Metadata-only

Plasma PCSK9 levels and lipoprotein distribution are preserved in carriers of genetic HDL disorders

Ruscica, Massimiliano Simonelli, Sara Botta, Margherita

Proprotein convertase subtilisin/kexin 9 (PCSK9), a protein regulating the number of cell-surface LDL receptors (LDLR), circulates partially associated to plasma lipoproteins. How this interaction alters PCSK9 plasma levels is still unclear. In the present study, we took advantage of the availability of a large cohort of carriers of genetic HDL...

Uploaded on: April 14, 2023