Associated Papers
Disorders of fatty acid homeostasis.
Vaz FM et al.
Journal of Inherited Metabolic Disease, 2025
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
Elovl5 Expression in the Central Nervous System of the Adult Mouse.
Balbo I et al.
Frontiers in Neuroanatomy, 2021
Novel Cellular Functions of Very Long Chain-Fatty Acids: Insight From ELOVL4 Mutations.
Deák F et al.
Frontiers in Cellular Neuroscience, 2019
Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38.
Manes M et al.
Annals of Neurology, 2017
Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38).
Borroni B et al.
Parkinsonism & Related Disorders, 2016
SCA38 is rare in Mainland China.
Liu Z et al.
Journal of the Neurological Sciences, 2015
ELOVL5 mutations cause spinocerebellar ataxia 38.
Di Gregorio E et al.
American Journal of Human Genetics, 2014
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