Arv1; a “Mover and Shaker” of Subcellular Lipids
JJ Corbalan, KK Frietze, J Nickels, SL Sturley - Contact, 2025 - journals.sagepub.com
The composition of eukaryotic membranes reflects a varied but precise amalgam of lipids.
The genetic underpinning of how such diversity is achieved or maintained is surprisingly …
The genetic underpinning of how such diversity is achieved or maintained is surprisingly …
Molecular insights into the lipid‐carbohydrates metabolism switch under the endurance effort in Arabian horses
G Myćka, K Ropka‐Molik, A Cywińska… - Equine Veterinary …, 2024 - Wiley Online Library
Background Recent studies have shown that in Arabian horse muscle, long‐term exercise‐
induced expression of genes related to fatty acid degradation and the downregulation of …
induced expression of genes related to fatty acid degradation and the downregulation of …
Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy
EE Palmer, KE Jarrett, RK Sachdev… - Human molecular …, 2016 - academic.oup.com
We report an individual who presented with severe neurodevelopmental delay and an
intractable infantile-onset seizure disorder. Exome sequencing identified a homozygous …
intractable infantile-onset seizure disorder. Exome sequencing identified a homozygous …
Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency
Background Mutations in the ARV1 Homolog, Fatty Acid Homeostasis Modulator (ARV1),
have recently been described in association with early infantile epileptic encephalopathy 38 …
have recently been described in association with early infantile epileptic encephalopathy 38 …
[HTML][HTML] Adipocyte-specific tribbles pseudokinase 1 regulates plasma adiponectin and plasma lipids in mice
EE Ha, GI Quartuccia, R Ling, C Xue, RA Karikari… - Molecular …, 2022 - Elsevier
Objective Multiple genome-wide association studies (GWAS) have identified SNPs in the
8q24 locus near TRIB1 that are significantly associated with plasma lipids and other markers …
8q24 locus near TRIB1 that are significantly associated with plasma lipids and other markers …
Cold‐sensitive phenotypes of a yeast null mutant of ARV1 support its role as a GPI flippase
H Okai, R Ikema, H Nakamura, M Kato, M Araki… - FEBS …, 2020 - Wiley Online Library
Glycosylphosphatidylinositol (GPI) is synthesized in the endoplasmic reticulum (ER) and
added onto proteins to form GPI‐anchored proteins. Among the many proteins involved in …
added onto proteins to form GPI‐anchored proteins. Among the many proteins involved in …
Migrating Focal Seizures and Myoclonic Status in ARV1-Related Encephalopathy
F Darra, T Lo Barco, R Opri, E Parrini… - Neurology …, 2021 - AAN Enterprises
Objective To report longitudinal clinical, EEG, and MRI findings in 2 sisters carrying
compound heterozygous ARV1 mutations and exhibiting a peculiar form of developmental …
compound heterozygous ARV1 mutations and exhibiting a peculiar form of developmental …
A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures
R Segel, A Aran, S Gulsuner, H Nakamura, T Rosen… - neurogenetics, 2020 - Springer
Deficiency of the endoplasmic reticulum transmembrane protein ARV1 leads to epileptic
encephalopathy in humans and in mice. ARV1 is highly conserved, but its function in human …
encephalopathy in humans and in mice. ARV1 is highly conserved, but its function in human …
[HTML][HTML] Mice lacking ARV1 have reduced signs of metabolic syndrome and non-alcoholic fatty liver disease
C Gallo-Ebert, J Francisco, HY Liu, R Draper… - Journal of Biological …, 2018 - Elsevier
Metabolic syndrome (MetS) is a term used to characterize individuals having at least three of
the following diseases: obesity, dyslipidemia, hyperglycemia, insulin resistance …
the following diseases: obesity, dyslipidemia, hyperglycemia, insulin resistance …
Whole exome sequencing identified a novel homozygous ARV1 mutation in an Iranian family with developmental and epileptic encephalopathy-38
Developmental and epileptic encephalopathy-38 (DEE38) is an inherited
neurodegenerative disorder described by the onset of various type of seizures usually …
neurodegenerative disorder described by the onset of various type of seizures usually …