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Article

Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa.

American journal of human genetics - 12 Nov 2010

Rajadhyaksha Anjali M, Elemento Olivier, Puffenberger Erik G, Schierberl Kathryn C, Xiang Jenny Z, Putorti Maria L, Berciano José, Poulin Chantal, Brais Bernard, Michaelides Michel, Weleber Richard G, Higgins Joseph J

Abstract excerpt

The study of inherited retinal diseases has advanced our knowledge of the cellular and molecular mechanisms involved in sensory neural signaling. Dysfunction of two specific sensory modalities, vision and proprioception, characterizes the phenotype of the rare, autosomal-recessive disorder poster...

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Source

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Identifiers

PMID: 21070897
DOI: 10.1016/j.ajhg.2010.10.013
PMCID: PMC2978959

Genes

FLVCR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21070897-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa.PMID 21070897Read ↗

Extending the phenotype of posterior column ataxia with retinitis pigmentosa caused by variants in FLVCR1.Semantic proximity Read ↗

Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene.Semantic proximity Read ↗

Novel mutations in FLVCR1 cause tremors, sensory neuropathy with retinitis pigmentosa.Semantic proximity Read ↗

FLVCR1-related disease as a rare cause of retinitis pigmentosa and hereditary sensory autonomic neuropathy.Semantic proximity Read ↗

Mitochondrial energetic failure underlies FLVCR1-related sensory neuropathy.Semantic proximity Read ↗

A Novel FLVCR1 Variant Implicated in Retinitis Pigmentosa.Semantic proximity Read ↗

Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation.Semantic proximity Read ↗

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum.Semantic proximity Read ↗

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

Posterior column ataxia with retinitis pigmentosa (PCARP) in an Iranian patient associated with the FLVCR1 gene.Semantic proximity Read ↗

Heme and FLVCR-related transporter families SLC48 and SLC49.Semantic proximity Read ↗

Mutations of FLVCR1 in posterior column ataxia and retinitis pigmentosa result in the loss of heme export activity.Semantic proximity Read ↗

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