Associated Papers
Mitochondrial energetic failure underlies FLVCR1-related sensory neuropathy.
Bertino F et al.
Communications Biology, 2026
Dysregulation of FLVCR1a-dependent mitochondrial calcium handling in neural progenitors causes congenital hydrocephalus.
Bertino F et al.
Cell Reports. Medicine, 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
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
Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception.
Chiabrando D et al.
Plos Genetics, 2016
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