# Characterization of Autosomal Dominant Hypercholesterolemia Caused by <i>PCSK9</i> Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/characterization-of-autosomal-dominant-hypercholesterolemia-caused-by-i-pcsk9-i/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Paul N. Hopkins,Joep C. Defesche,Sigrid W. Fouchier,Éric Bruckert,Gérald Luc,Bertrand Cariou,Barbara Sjouke,Trond P. Leren,Mariko Harada‐Shiba,Hiroshi Mabuchi,Jean‐Pierre Rabès,Alain Carrié,Charles van Heyningen,Valérie Carreau,Michel Farnier,Yee Ping Teoh,Mafalda Bourbon,Masa‐aki Kawashiri,Atsushi Nohara,Handrean Soran,A. David Marais,Hayato Tada,Marianne Abifadel,Cathérine Boileau,B. Chanu,Shoji Katsuda,Ichiro Kishimoto,Gilles Lambert,Hisashi Makino,Yoshihiro Miyamoto,Matthieu Pichelin,Kunimasa Yagi,Masakazu Yamagishi,Yassine Zaïr,Scott Mellis,George D. Yancopoulos,Neil Stahl,Johanna Mendoza,Yunling Du,Sara Hamon,Michel Krempf,Gary D. Swergold |
| Citations | 110 |
| DOI | 10.1161/circgenetics.115.001129 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | hybrid |
| OA URL | https://www.ahajournals.org/doi/pdf/10.1161/CIRCGENETICS.115.001129 |
| OpenAlex ID | https://openalex.org/W2153159453 |
| PMID | 26374825 |
| Type | article |
| Year | 2015 |

## Paper authors

- [Hisashi Makino](https://scholariq.org/researchers/hisashi-makino/)

## Paper primary topic

- [Lipoproteins and Cardiovascular Health](https://scholariq.org/topics/lipoproteins-and-cardiovascular-health/)

## Paper topics

- [Lipoproteins and Cardiovascular Health](https://scholariq.org/topics/lipoproteins-and-cardiovascular-health/)
- [Cholesterol and Lipid Metabolism](https://scholariq.org/topics/cholesterol-and-lipid-metabolism/)
- [Dermatological and Skeletal Disorders](https://scholariq.org/topics/dermatological-and-skeletal-disorders/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.