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Agbaga, Martin-Paul
One or more keywords matched the following items that are connected to
Agbaga, Martin-Paul
Item Type
Name
Concept
Mutation
Academic Article
Mutant ELOVL4 that causes autosomal dominant stargardt-3 macular dystrophy is misrouted to rod outer segment disks.
Academic Article
Deciphering mutant ELOVL4 activity in autosomal-dominant Stargardt macular dystrophy.
Academic Article
Different Mutations in ELOVL4 Affect Very Long Chain Fatty Acid Biosynthesis to Cause Variable Neurological Disorders in Humans.
Academic Article
Homozygous Expression of Mutant ELOVL4 Leads to Seizures and Death in a Novel Animal Model of Very Long-Chain Fatty Acid Deficiency.
Academic Article
Elovl4 5-bp deletion does not accelerate cone photoreceptor degeneration in an all-cone mouse.
Academic Article
The Elovl4 Spinocerebellar Ataxia-34 Mutation 736T>G (p.W246G) Impairs Retinal Function in the Absence of Photoreceptor Degeneration.
Academic Article
ELOVL4: Very long-chain fatty acids serve an eclectic role in mammalian health and function.
Academic Article
Degradation of Photoreceptor Outer Segments by the Retinal Pigment Epithelium Requires Pigment Epithelium-Derived Factor Receptor (PEDF-R).
Academic Article
W246G Mutant ELOVL4 Impairs Synaptic Plasticity in Parallel and Climbing Fibers and Causes Motor Defects in a Rat Model of SCA34.
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Mutation