Associated Papers
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
Characterizing and explaining the impact of disease-associated mutations in proteins without known structures or structural homologs.
Sen N et al.
Briefings in Bioinformatics, 2022
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.
Perea-Romero I et al.
Human Genetics, 2021
Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.
Barbosa-Gouveia S et al.
Genes, 2021
Hereditary Ataxia: A Focus on Heme Metabolism and Fe-S Cluster Biogenesis.
Chiabrando D et al.
International Journal of Molecular Sciences, 2020
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
Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1.
Ishiura H et al.
Neurogenetics, 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