Article

Boosting BDNF in muscle rescues impaired axonal transport in a mouse model of DI-CMTC peripheral neuropathy

2023-04-09

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) is a genetic peripheral neuropathy caused by mutations in many functionally diverse genes. The aminoacyl-tRNA synthetase (ARS) enzymes, which transfer amino acids to partner tRNAs for protein synthesis, represent the largest protein family genetically linked to CMT aetiology, suggesting pathomechanistic commonalities. Dominant intermediate CMT type C (DI-CMTC) is caused by YARS1...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 4dde8a9f-5922-5712-aa35-93257788a1bc
DOI: 10.1101/2023.04.09.536152

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Boosting BDNF in muscle rescues impaired axonal transport in a mouse model of DI-CMTC peripheral neuropathyDOI 10.1101/2023.04.09.536152Read

Boosting BDNF in muscle rescues impaired axonal transport in a mouse model of DI-CMTC peripheral neuropathy.Semantic proximity Read

Boosting peripheral BDNF rescues impaired in vivo axonal transport in CMT2D mice.Semantic proximity Read

Recent advances in the genetic neuropathies.Semantic proximity Read

CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase.Semantic proximity Read

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy.Semantic proximity Read

Charcot-Marie-Tooth disease and related neuropathies.Semantic proximity Read

Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy.Semantic proximity Read

The neuropathy-causing <i>GARS1</i> <sup> Δ <i>ETAQ</i> </sup> mutation drives pathology in subsets of motor and sensory neurons in miceSemantic proximity Read

CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila.Semantic proximity Read

Altered sensory neuron development in CMT2D mice is site-specific and linked to increased GlyRS levelsSemantic proximity Read

Tyrosyl-tRNA synthetase has a noncanonical function in actin bundling.Semantic proximity Read

CMT2N-causing aminoacylation domain mutants enable Nrp1 interaction with AlaRS.Semantic proximity Read