Associated Papers
Emerging insights into the function of very long chain fatty acids at cerebellar synapses.
Agbaga MP et al.
Neural Regeneration Research, 2025
Potential Clinical Benefit of Very Long Chain Fatty Acid Supplementation in Spinocerebellar Ataxia Type 34.
Gazulla J et al.
Cerebellum (london, England), 2024
The Spinocerebellar Ataxia 34-Causing W246G ELOVL4 Mutation Does Not Alter Cerebellar Neuron Populations in a Rat Model.
Fessler JL et al.
Cerebellum (london, England), 2024
Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34.
Nishide M et al.
Cerebellum (london, England), 2024
Synapse-Specific Defects in Synaptic Transmission in the Cerebellum of W246G Mutant ELOVL4 Rats-a Model of Human SCA34.
Nagaraja RY et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2023
A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report.
Gyening YK et al.
Acta Neuropathologica Communications, 2023
SCA34 caused by ELOVL4 L168F mutation is a lysosomal lipid storage disease sharing pathology features with neuronal ceroid lipofuscinosis and peroxisomal disorders.
Ellezam B et al.
Acta Neuropathologica, 2023
Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot.
Ferrero E et al.
Human Genetics, 2023
Incomplete Elongation of Ultra-long-chain Polyunsaturated Acyl-CoAs by the Fatty Acid Elongase ELOVL4 in Spinocerebellar Ataxia Type 34.
Tamura Y et al.
Molecular and Cellular Biology, 2023
ELOVL4 Mutations That Cause Spinocerebellar Ataxia-34 Differentially Alter Very Long Chain Fatty Acid Biosynthesis.
Gyening YK et al.
Journal of Lipid Research, 2023
Hot Cross Bun Sign in Progressive Ataxia with ELOVL4 Mutation-Case Report.
Moreno-Escobar M et al.
Movement Disorders Clinical Practice, 2022
Neuropathology of SCA34 showing widespread oligodendroglial pathology with vacuolar white matter degeneration: a case study.
Ozaki K et al.
Acta Neuropathologica Communications, 2021
W246G Mutant ELOVL4 Impairs Synaptic Plasticity in Parallel and Climbing Fibers and Causes Motor Defects in a Rat Model of SCA34.
Nagaraja RY et al.
Molecular Neurobiology, 2021
Congenital Ichthyosis in a Case of Spinocerebellar Ataxia Type 34: A Novel Presentation for a Known Mutation.
Haeri G et al.
Movement Disorders Clinical Practice, 2021
Very long chain fatty acid-containing lipids: a decade of novel insights from the study of ELOVL4.
Yeboah GK et al.
Journal of Lipid Research, 2021
The Elovl4 Spinocerebellar Ataxia-34 Mutation 736T>G (p.W246G) Impairs Retinal Function in the Absence of Photoreceptor Degeneration.
Agbaga MP et al.
Molecular Neurobiology, 2020
A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutation.
Xiao C et al.
Neurology. Genetics, 2019
Prevalence and clinicoradiological features of spinocerebellar ataxia type 34 in a Japanese ataxia cohort.
Ozaki K et al.
Parkinsonism & Related Disorders, 2019
ELOVL4: Very long-chain fatty acids serve an eclectic role in mammalian health and function.
Hopiavuori BR et al.
Progress in Retinal and Eye Research, 2019
Novel Cellular Functions of Very Long Chain-Fatty Acids: Insight From ELOVL4 Mutations.
Deák F et al.
Frontiers in Cellular Neuroscience, 2019
Novel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34).
Bourque PR et al.
Neurology. Genetics, 2018
A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34.
Ozaki K et al.
Jama Neurology, 2015
Progressive symmetric erythrokeratodermia with spinocerebellar ataxia due to ELOVL4 mutation in a Chinese family.
Wang Z et al.
Indian Journal of Dermatology, Venereology and Leprology, 0