ABCG5 and ABCG8 gene variations associated with sitosterolemia and platelet dysfunction

Platelets. 2021 May 19;32(4):573-577. doi: 10.1080/09537104.2020.1779926. Epub 2020 Jun 16.

Authors

Jose María Bastida¹, Rocío Benito², José Ramón González-Porras¹, José Rivera³

Affiliations

¹ Department of Hematology, Hospital Universitario de Salamanca - IBSAL, Salamanca, Spain.
² IBSAL, IBMCC, CIC, Universidad de Salamanca-CSIC, Salamanca, Spain.
³ Department of Hematology and Oncology, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, Murcia, Spain.

PMID: 32546081
DOI: 10.1080/09537104.2020.1779926

No abstract available

Keywords: ABCG5; ABCG8; bleeding; inherited platelet disorders; sitosterolemia; thrombocytopenia.

MeSH terms

ATP Binding Cassette Transporter, Subfamily G, Member 5 / blood
ATP Binding Cassette Transporter, Subfamily G, Member 5 / genetics*
ATP Binding Cassette Transporter, Subfamily G, Member 8 / blood
ATP Binding Cassette Transporter, Subfamily G, Member 8 / genetics*
Animals
Blood Platelet Disorders / blood
Blood Platelet Disorders / genetics*
Female
Humans
Hypercholesterolemia / genetics*
Intestinal Diseases / genetics*
Lipid Metabolism, Inborn Errors / genetics*
Lipoproteins / blood
Lipoproteins / genetics*
Male
Mice
Phytosterols / adverse effects*
Phytosterols / genetics

Substances

ABCG5 protein, human
ABCG8 protein, human
ATP Binding Cassette Transporter, Subfamily G, Member 5
ATP Binding Cassette Transporter, Subfamily G, Member 8
Lipoproteins
Phytosterols

Supplementary concepts

Sitosterolemia