Novel cellular functions of very long chain-fatty acids: insight from ELOVL4 mutations

F Deák, RE Anderson, JL Fessler… - Frontiers in cellular …, 2019 - frontiersin.org
Elongation of Very Long chain fatty acids-4 (ELOVL4) protein is a member of the ELOVL
family of fatty acid elongases that is collectively responsible for catalyzing formation of long …

[HTML][HTML] Maternal treatment with sodium butyrate reduces the development of autism-like traits in mice offspring

C Cristiano, E Hoxha, P Lippiello, I Balbo… - Biomedicine & …, 2022 - Elsevier
Several studies indicate a relationship between maternal gut microbiota alteration and
increased risk of autism spectrum disorders (ASD) in offspring. The possibility of …

Human Purkinje cells outperform mouse Purkinje cells in dendritic complexity and computational capacity

S Masoli, D Sanchez-Ponce, N Vrieler… - Communications …, 2024 - nature.com
Purkinje cells in the cerebellum are among the largest neurons in the brain and have been
extensively investigated in rodents. However, their morphological and physiological …

Chronic suppression of STIM1-mediated calcium signaling in Purkinje cells rescues the cerebellar pathology in spinocerebellar ataxia type 2

PA Egorova, KS Marinina, IB Bezprozvanny - Biochimica et Biophysica Acta …, 2023 - Elsevier
Distorted neuronal calcium signaling has been reported in many neurodegenerative
disorders, including different types of spinocerebellar ataxias (SCAs). Cerebellar Purkinje …

Ovine ELOVL5 and FASN genes polymorphisms and their correlations with sheep tail fat deposition

L Zhao, F Li, T Liu, L Yuan, X Zhang, D Zhang, X Li… - Gene, 2022 - Elsevier
Reducing tail fat deposition can increase the economic value of a carcass and improve feed
efficiency. This study aimed to explore ELOVL5 and FASN polymorphisms associated with …

Long-term efficacy of docosahexaenoic acid (DHA) for spinocerebellar ataxia 38 (SCA38) treatment: an open label extension study

M Manes, A Alberici, E Di Gregorio, L Boccone… - Parkinsonism & related …, 2019 - Elsevier
Abstract Introduction Spinocerebellar Ataxia 38 (SCA38) is caused by ELOVL5 gene
mutation, with significant reduction of serum docosahexaenoic acid (DHA) levels. DHA …

SCA34 caused by ELOVL4 L168F mutation is a lysosomal lipid storage disease sharing pathology features with neuronal ceroid lipofuscinosis and peroxisomal …

B Ellezam, ML Kaseka, DK Nguyen, J Michaud - Acta Neuropathologica, 2023 - Springer
Abstract Spinocerebellar ataxia 34 (SCA34) is a late-onset progressive ataxia caused by a
mutation in ELOVL4, a gene involved in the biosynthesis of very long-chain fatty acids …

Effect of naoxintong capsule on microglia and proteomics of cortex after myocardial infarction in rats

M Chang, Y Lei, J Zhang, J Xu, H Wu, S Tang… - Molecular …, 2024 - Springer
Neuroinflammation caused by microglia in the central nervous system (CNS) is observed
after myocardial infarction (MI). However, the inflammatory response mechanism remains …

W246G mutant ELOVL4 impairs synaptic plasticity in parallel and climbing fibers and causes motor defects in a rat model of SCA34

RY Nagaraja, DM Sherry, JL Fessler, MA Stiles… - Molecular …, 2021 - Springer
Spinocerebellar ataxia (SCA) is a neurodegenerative disorder characterized by ataxia and
cerebellar atrophy. A number of different mutations gives rise to different types of SCA with …

In human and mouse spino-cerebellar tissue, ataxin-2 expansion affects ceramide-sphingomyelin metabolism

NE Sen, A Arsovic, D Meierhofer, S Brodesser… - International journal of …, 2019 - mdpi.com
Ataxin-2 (human gene symbol ATXN2) acts during stress responses, modulating mRNA
translation and nutrient metabolism. Ataxin-2 knockout mice exhibit progressive obesity …