Associated Papers
ARV1 is a component of the enzyme initiating glycosylphosphatidylinositol biosynthesis.
Lu T et al.
The Journal of Biological Chemistry, 2025
40378954 (PubMed )
Supplement: mmc1.pdf
When Genes Misfire: ARV1 and the Unseen Battle Against Pediatric Epileptic Encephalopathy.
Hammad Seroor Jadah R et al.
Cureus, 2025
Identification of ARV1 Gene Mutations in Three Pediatric Cases of Developmental and Epileptic Encephalopathy.
Buhusayen FAM et al.
Cureus, 2025
ARV1 Gene: A Novel Cause of Autosomal Recessive Cerebellar Ataxia with Elevated Alpha Fetoprotein.
Kamate M et al.
Cerebellum (london, England), 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
Dilated cardiomyopathy is a part of the ARV1-associated phenotype: a case report.
Karabinos A et al.
Journal of Medical Case Reports, 2022
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins.
Salian S et al.
Clinical Genetics, 2021
Forty-seven pathogenic variants causing autosomal recessive disorders are shared by Israeli and Saudi Arabian Arabs.
Zlotogora J
Clinical Genetics, 2021
Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance.
Ozgencil M et al.
Plos One, 2021
34855882 (PubMed )
Supplement: pone.0260852.s015.xlsx › iC61G_2
A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures.
Segel R et al.
Neurogenetics, 2020
Cold-sensitive phenotypes of a yeast null mutant of ARV1 support its role as a GPI flippase.
Okai H et al.
Febs Letters, 2020
Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.
Davids M et al.
Molecular Genetics and Metabolism, 2020
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
28600779 (PubMed )
Supplement: 439_2017_1821_MOESM1_ESM.xlsx › Sheet2
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy.
Palmer EE et al.
Human Molecular Genetics, 2016
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
Alazami AM et al.
Cell Reports, 2015
Arv1; a "Mover and Shaker" of Subcellular Lipids.
Corbalan JJ et al.
Contact (thousand Oaks (ventura County, Calif.)), 0
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