| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Jennifer L Fessler, Megan A Stiles, Martin-Paul Agbaga, Mohiuddin Ahmad, David M Sherr. The Spinocerebellar Ataxia 34-Causing W246G ELOVL4 Mutation Does Not Alter Cerebellar Neuron Populations in a Rat Model. Cerebellum (London, England). 2024-06-08. PMID:38850484. |
the spinocerebellar ataxia 34-causing w246g elovl4 mutation does not alter cerebellar neuron populations in a rat model. |
2024-06-08 |
2024-06-11 |
human |
| Jennifer L Fessler, Megan A Stiles, Martin-Paul Agbaga, Mohiuddin Ahmad, David M Sherr. The Spinocerebellar Ataxia 34-Causing W246G ELOVL4 Mutation Does Not Alter Cerebellar Neuron Populations in a Rat Model. Cerebellum (London, England). 2024-06-08. PMID:38850484. |
to test whether w246g elovl4 altered neuronal generation or survival in the cerebellum, we compared the numbers of purkinje cells, unipolar brush cells, molecular layer interneurons, granule and displaced granule cells in the cerebellum of wildtype, heterozygous, and homozygous sca34-ki rats at four months of age, when motor impairment is already present. |
2024-06-08 |
2024-06-11 |
human |
| Yeboah Kofi Gyening, Keren Boris, Mignot Cyril, Richard S Brush, Marie-Cécile Nassogne, Martin-Paul Agbag. A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report. Acta neuropathologica communications. vol 11. issue 1. 2023-08-11. PMID:37568198. |
spinocerebellar ataxia 34 (sca34) is an autosomal dominant inherited disease characterized by age-related cerebellar degeneration and ataxia caused by mutations in the elongation of very long chain fatty acid-4 (elovl4) gene. |
2023-08-11 |
2023-08-16 |
Not clear |
| Yeboah Kofi Gyening, Keren Boris, Mignot Cyril, Richard S Brush, Marie-Cécile Nassogne, Martin-Paul Agbag. A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report. Acta neuropathologica communications. vol 11. issue 1. 2023-08-11. PMID:37568198. |
to understand the enzymatic function of this novel elovl4 variant and how it alters the levels of vlc-pufa and vlc-sfa biosynthesis to contribute to cerebellar and retinal dysfunction, we expressed wild-type elovl4 or the l168s elovl4 variant in cell culture and supplemented the cultures with vlc-pufa or vlc-sfa precursors. |
2023-08-11 |
2023-08-16 |
Not clear |
| Raghavendra Y Nagaraja, Megan A Stiles, David M Sherry, Martin-Paul Agbaga, Mohiuddin Ahma. Synapse-specific defects in synaptic transmission in the cerebellum of W246G mutant ELOVL4 rats- a model of human SCA34. The Journal of neuroscience : the official journal of the Society for Neuroscience. 2023-07-25. PMID:37491316. |
synapse-specific defects in synaptic transmission in the cerebellum of w246g mutant elovl4 rats- a model of human sca34. |
2023-07-25 |
2023-08-14 |
human |
| Soumava Mukherjee, Manoj Roy, Sinjan Ghosh, Gautam Guha, Shankar Prasad Saha, Ashwin Dala. Rare mutation in ELOVL4 gene in SCA34 and cognitive affection: Expounding the role of cerebellum. Clinical neurology and neurosurgery. vol 210. 2021-11-23. PMID:34700276. |
rare mutation in elovl4 gene in sca34 and cognitive affection: expounding the role of cerebellum. |
2021-11-23 |
2023-08-13 |
Not clear |
| Raghavendra Y Nagaraja, David M Sherry, Jennifer L Fessler, Megan A Stiles, Feng Li, Karanpreet Multani, Albert Orock, Mohiuddin Ahmad, Richard S Brush, Robert E Anderson, Martin-Paul Agbaga, Ferenc Deá. W246G Mutant ELOVL4 Impairs Synaptic Plasticity in Parallel and Climbing Fibers and Causes Motor Defects in a Rat Model of SCA34. Molecular neurobiology. vol 58. issue 10. 2021-10-27. PMID:34227061. |
these results point to elovl4 as essential for motor function and cerebellar synaptic plasticity. |
2021-10-27 |
2023-08-13 |
rat |
| Raghavendra Y Nagaraja, David M Sherry, Jennifer L Fessler, Megan A Stiles, Feng Li, Karanpreet Multani, Albert Orock, Mohiuddin Ahmad, Richard S Brush, Robert E Anderson, Martin-Paul Agbaga, Ferenc Deá. W246G Mutant ELOVL4 Impairs Synaptic Plasticity in Parallel and Climbing Fibers and Causes Motor Defects in a Rat Model of SCA34. Molecular neurobiology. vol 58. issue 10. 2021-10-27. PMID:34227061. |
to understand the mechanism of these motor deficits, we performed electrophysiological studies using cerebellar slices from rats homozygous for w246g mutant elovl4 and found marked reduction of long-term potentiation at parallel fiber synapses and long-term depression at climbing fiber synapses onto purkinje cells. |
2021-10-27 |
2023-08-13 |
rat |
| Gyening Kofi Yeboah, Ekaterina S Lobanova, Richard S Brush, Martin-Paul Agbag. Very long chain fatty acid-containing lipids: a decade of novel insights from the study of ELOVL4. Journal of lipid research. vol 62. 2021-10-12. PMID:33556440. |
mutations in elovl4 that affect biosynthesis of these fatty acids cause several distinct tissue-specific human disorders that include blindness, age-related cerebellar atrophy and ataxia, skin disorders, early-childhood seizures, mental retardation, and mortality, which underscores the essential roles of elovl4 products for life. |
2021-10-12 |
2023-08-13 |
human |