First-pass extracted concept

INSC p.Met70Arg

Candidate: toolkit item1 source documents3 linked claims

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Aliases

c.209 T > G (p.Met70Arg), INSC M70R, INSCM70R

Evidence Snippets

identified a missense mutation c.209 T > G (p.Met70Arg) in the INSC gene

Evidence 1Source 1DOI PubMedprovenance

Supporting Sources

Source 1primary paper2024EMBO Molecular MedicineDOI PubMed

1 evidence snippet 3 linked claims Claim 1 Claim 2 Claim 3

Linked Claims

Claim 1disease associationsupports2024Source 1DOI PubMed

A missense mutation c.209 T > G (p.Met70Arg) in INSC was identified at a new locus for axonal Charcot-Marie-Tooth disease.

Quoted textsource-backed

We mapped a new locus for axonal Charcot-Marie-Tooth disease (CMT2) and identified a missense mutation c.209 T > G (p.Met70Arg) in the INSC gene.

Claim 2model phenotypesupports2024Source 1DOI PubMed

Modeling the INSC M70R variant in Drosophila caused proprioceptive defects and gait defects resembling those in CMT2 patients.

Quoted textsource-backed

Modeling the INSCM70R variant in Drosophila, we showed that it caused proprioceptive defects in adult flies, leading to gait defects resembling those in CMT2 patients.

Claim 3rescue effectsupports2024Source 1DOI PubMed

Microtubule-stabilizing agents rescued morphological and functional defects of the INSC M70R mutation in the peripheral nervous system.

Quoted textsource-backed

with microtubule-stabilizing agents rescuing both morphological and functional defects of the INSCM70R mutation in the PNS