Back to search

Article

Biallelic variation in the choline and ethanolamine transporter<i>FLVCR1</i>underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders

2024-02-13

Abstract excerpt

FLVCR1 encodes Feline leukemia virus subgroup C receptor 1 (FLVCR1), a solute carrier (SLC) transporter within the Major Facilitator Superfamily. FLVCR1 is a widely expressed transmembrane protein with plasma membrane and mitochondrial isoforms implicated in heme, choline, and ethanolamine transport. While Flvcr1 knockout mice die in utero with skeletal malformations and defective erythropoiesis reminiscent of Dia...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work
6fea8649-6378-5343-83bf-6d0747c2bfdc
DOI
10.1101/2024.02.09.24302464
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Biallelic variation in the choline and ethanolamine transporter<i>FLVCR1</i>underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disordersDOI 10.1101/2024.02.09.24302464
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum.Semantic proximity
Integrative genetic analysis identifies FLVCR1 as an essential component of choline transport in mammalsSemantic proximity
Integrative genetic analysis identifies FLVCR1 as a plasma-membrane choline transporter in mammals.Semantic proximity
A complex duplication overlapping <i>FBRSL1</i> implicated in a developmental and epileptic encephalopathySemantic proximity
Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families.Semantic proximity
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.Semantic proximity
Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing.Semantic proximity
Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.Semantic proximity
Heme and FLVCR-related transporter families SLC48 and SLC49.Semantic proximity
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.Semantic proximity
Structural and mechanistic insights into human choline and ethanolamine transportSemantic proximity
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation associated with KIF11 pathogenic variant: case report and genotype-phenotype correlation analysis.Semantic proximity
Select a neighboring publication to make it the new centre.