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. 2021 Feb 19;16(10):1950–1957. doi: 10.4103/1673-5374.308074

Table 1.

Localization and local translation errors of different proteins in various diseases

mRNA Disease The original function Location and Translation Errors Reference
p110β FXS PI3K catalytic subunit and target mRNA of FMRP Abnormal or maladjusted activity of PI3k Gross et al. (2010)
β-Actin SMA cytoskeletal protein The β-actin mRNA of SMA motor neurons can be mislocated, causing axonal growth interference Rossoll et al. (2003);
Rathod et al. (2012)
HuD SMA Regulate target mRNA stability, translation, neurodevelopment and plasticity Molecular motor defect, β-actin mRNA and the microtubule associated protein Tau mRNA were limited in axonal localization. Fallini et al. (2011)
GAP43 SMA Axon growth Motor neuron axon growth defect Fallini et al. (2016)
tau AD Mainly located in axons and growth cones, regulating microtubule dynamics Hyperphosphorylation leads to the loss of its specific axon location, re-aggregation in the cyton and dendrites, resulting in the formation of net Aronov et al. (2001);
Gauthier-Kemper et al. (2011);
Guo et al. (2017)
TDP-43 ALS Transport g4-containing mRNA from the nucleus to the neurite The transport of axonal mRNA was damaged, the synthesis of FutsCH was blocked, and the normal action of microtubule cytoskeleton was affected Ishiguro et al. (2016); Endo et al. (2018)
FUS ALS Intracellular protein or mRNA transport plays a role in transcription, splicing, RNA localization, and DNA damage Local ISR is triggered and local protein synthesis is inhibited, ultimately damaging the synaptic function of neurons López-Erauskin et al. (2020)

AD: Alzheimer’s disease; ALS: amyotrophic lateral sclerosis; FXS: fragile X syndrome; ISR: integrated stress response; SMA: spinal muscular atrophy.