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polymicrogyria/phospholipid

Veza se sprema u međuspremnik
ČlanciKliničkim ispitivanjimaPatenti
2 rezultati

Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy.

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Mutations of FIG4 are responsible for Yunis-Varón syndrome, familial epilepsy with polymicrogyria, and Charcot-Marie-Tooth type 4J neuropathy (CMT4J). Although loss of the FIG4 phospholipid phosphatase consistently causes decreased PtdIns(3,5)P₂ levels, cell-specific sensitivity to partial loss of

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

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Mutations of genes within the phosphatidylinositol-3-kinase (PI3K)-AKT-MTOR pathway are well known causes of brain overgrowth (megalencephaly) as well as segmental cortical dysplasia (such as hemimegalencephaly, focal cortical dysplasia and polymicrogyria). Mutations of the AKT3 gene have been
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