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Article

Cryptic mutations of PLC family members in brain disorders: recent discoveries and a deep-learning-based approach.

Brain : a journal of neurology - 19 Apr 2023

Lim Key-Hwan, Yang Sumin, Kim Sung-Hyun, Ko Euiseong, Kang Mingon, Joo Jae-Yeol

Abstract excerpt

Phospholipase C (PLC) is an essential isozyme involved in the phosphoinositide signalling pathway, which maintains cellular homeostasis. Gain- and loss-of-function mutations in PLC affect enzymatic activity and are therefore associated with several disorders. Alternative splicing variants of PLC can interfere with complex signalling networks associated with oncogenic transformation and other diseases, including...

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Identifiers

PMID: 36448305
DOI: 10.1093/brain/awac451
PMCID: PMC10115239

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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