Related Experiment Video
Updated: May 26, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
FLVCR1-related diseases: from clinical heterogeneity to mechanistic insights
Diletta Isabella Zanin Venturini1, Deborah Chiabrando1
1Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center (MBC) 'Guido Tarone', University of Torino, 10126 Torino, Italy.
Abstract:
Feline Leukemia Virus subgroup-C Receptor 1 (FLVCR1) is an ubiquitously expressed choline and ethanolamine importer that is involved in the control of multiple aspects of cell biology including the regulation of phospholipids metabolism, heme homeostasis, mitochondria-ER contact sites and cellular bioenergetics. Mutations in the FLVCR1 gene cause a spectrum of autosomal-recessive disorders mainly affecting the nervous system. Research conducted in the last decade highlighted the complexity of the clinical features associated with FLVCR1 mutations, ranging from dysfunction of specific sensory modalities to severe neurodevelopmental defects. Despite important progress in understanding the FLVCR1 function, the molecular mechanisms responsible for the disease are still poorly understood and specific treatment for the affected patients is lacking. This review aims to critically examine the current knowledge surrounding FLVCR1-related diseases, from clinical manifestations to the underlying molecular mechanisms. We also propose future directions to advance research and improve patient treatment.
Related Concept Videos
Cystic Fibrosis: Pathogenesis
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
Parkinson Disease ll: Pathophysiology
Alzheimer Disease ll: Pathophysiology
Huntington Disease l: Introduction
COPD: Pathogenesis and Clinical Features
The primary cause for the onset of COPD is cigarette smoking and exposure to air pollution. These hazardous factors initiate a chain reaction within the lungs, resulting in chronic inflammation, damage to the airways, and a...
Mechanisms of Retrovirus-induced Cancers
