Associated Papers
A Case of Retinopathy-Sensory Neuropathy Syndrome With a Novel Compound Heterozygous FLVCR1 Variant.
Nakano Y et al.
Journal of the Peripheral Nervous System : Jpns, 2025
Structural basis of lipid head group entry to the Kennedy pathway by FLVCR1.
Son Y et al.
Nature, 2024
Novel mutations in FLVCR1 cause tremors, sensory neuropathy with retinitis pigmentosa.
Li Z et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2024
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.
Calame DG et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Mfsd7b facilitates choline transport and missense mutations affect choline transport function.
Ha HTT et al.
Cellular and Molecular Life Sciences : Cmls, 2023
Structural basis of lipid head group entry to the Kennedy pathway by FLVCR1.
Son Y et al.
Biorxiv : the Preprint Server for Biology, 2023
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
Hereditary Ataxia: A Focus on Heme Metabolism and Fe-S Cluster Biogenesis.
Chiabrando D et al.
International Journal of Molecular Sciences, 2020
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
Clinical and imaging characteristics of posterior column ataxia with retinitis pigmentosa with a specific FLVCR1 mutation.
Lee J et al.
Ophthalmic Genetics, 2018
A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia.
Yusuf IH et al.
Ophthalmic Genetics, 2018
Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation.
Castori M et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2017
Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene.
Shaibani A et al.
The International Journal of Neuroscience, 2015
Mutations of FLVCR1 in posterior column ataxia and retinitis pigmentosa result in the loss of heme export activity.
Yanatori I et al.
Blood Cells, Molecules & Diseases, 2012
Genetic mapping and exome sequencing identify variants associated with five novel diseases.
Puffenberger EG et al.
Plos One, 2012
Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1.
Ishiura H et al.
Neurogenetics, 2011
Unraveling the genetic and molecular basis of posterior column ataxia and retinitis pigmentosa.
Sutton LM
Clinical Genetics, 2011
Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa.
Rajadhyaksha AM et al.
American Journal of Human Genetics, 2010
Heme and FLVCR-related transporter families SLC48 and SLC49.
Khan AA et al.
Molecular Aspects of Medicine, 0