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MetabolomicsGut microbiome dysbiosis drives metabolic dysfunction in Familial dysautonomia
Familial dysautonomia (FD) is a rare genetic neurologic disorder caused by impaired neuronal development and progressive degeneration of both the peripheral and central nervous systems. FD is monogenic, with >99.4% of patients sharing an identical point mutation in the elongator acetyltransferase co...
2022-12-06 | MTBLS5138 | MetaboLights
Proteomics,MultiomicsAnalysis of peripheral neuron protein expression in the absence of Ikbkap/Elp1
Familial dysautonomia (FD) results from mutation in IKBKAP/ELP1, a gene encoding the scaffolding protein for the Elongator complex. This highly conserved complex is required for the methoxy-carbonyl-methyl (mcm5) modification of uridines located in the wobble position of tRNA molecules (U34). In F...
ORGANISM(S): Mus Musculus (ncbitaxon:10090) 
MSV000081568 | MassIVE
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