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Article

Attenuated cerebellar phenotypes in Inpp4a truncation mutants with preserved phosphatase activity.

Disease models & mechanisms - 1 Jul 2023

Tran Dang Minh, Yoshioka Nozomu, Bizen Norihisa, Mori-Ochiai Yukiko, Yano Masato, Yanai Shogo, Hasegawa Junya, Miyashita Satoshi, Hoshino Mikio, Sasaki Junko, Sasaki Takehiko, Takebayashi Hirohide

Abstract excerpt

Phosphoinositides (PIPs) act as intracellular signaling molecules that regulate various cellular processes. Abnormalities in PIP metabolism cause various pathological conditions, including neurodegenerative diseases, cancer and immune disorders. Several neurological diseases with diverse phenotypes, such as ataxia with cerebellar atrophy or intellectual disability without brain malformation, are caused by...

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PMID: 37415561
DOI: 10.1242/dmm.050169
PMCID: PMC10399444

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