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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 mutations in INPP4A, which encodes a phosphoinositide phosphatase. We examined two strains of Inpp4a mutant mice with distinct cerebellar phenotypes: the Inpp4a\u0394Ex1,2 mutant exhibited striatal degeneration without cerebellar atrophy, and the Inpp4a\u0394Ex23 mutant exhibited a severe striatal phenotype with cerebellar atrophy. Both strains exhibited reduced expression of Inpp4a mutant proteins in the cerebellum. N-terminal-truncated Inpp4a proteins were expressed from the Inpp4a\u0394Ex1,2 allele by alternative translation initiation and had phosphatase activity for PI(3,4)P2, whereas the Inpp4a mutant protein encoded by Inpp4a\u0394Ex23 completely lacked phosphatase activity. Our results indicate that the diverse phenotypes observed in Inpp4a-related neurological diseases could be due to the varying protein expression levels and retained phosphatase activity in different Inpp4a variants. These findings provide insights into the role of INPP4A mutations in disease pathogenesis and may help to develop personalized therapy.<\/jats:p>","DOI":"10.1242\/dmm.050169","type":"journal-article","created":{"date-parts":[[2023,7,7]],"date-time":"2023-07-07T07:36:17Z","timestamp":1688715377000},"source":"Crossref","is-referenced-by-count":2,"title":["Attenuated cerebellar phenotypes in <i>Inpp4a<\/i> truncation mutants with preserved phosphatase activity"],"prefix":"10.1242","volume":"16","author":[{"given":"Dang Minh","family":"Tran","sequence":"first","affiliation":[{"name":"Graduate School of Medical and Dental Sciences, Niigata University 1 Division of Neurobiology and Anatomy , , Niigata 951-8510 , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nozomu","family":"Yoshioka","sequence":"additional","affiliation":[{"name":"Graduate School of Medical and Dental Sciences, Niigata University 1 Division of Neurobiology and Anatomy , , Niigata 951-8510 , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norihisa","family":"Bizen","sequence":"additional","affiliation":[{"name":"Graduate School of Medical and Dental Sciences, Niigata University 1 Division of Neurobiology and Anatomy , , Niigata 951-8510 , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yukiko","family":"Mori-Ochiai","sequence":"additional","affiliation":[{"name":"Graduate School of Medical and Dental Sciences, Niigata University 1 Division of Neurobiology and Anatomy , , Niigata 951-8510 , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masato","family":"Yano","sequence":"additional","affiliation":[{"name":"Graduate School of Medical and Dental Sciences, Niigata University 1 Division of Neurobiology and Anatomy , , Niigata 951-8510 , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shogo","family":"Yanai","sequence":"additional","affiliation":[{"name":"Medical Research Institute, Tokyo Medical and Dental University (TMDU) 2 Department of Biochemical Pathophysiology , , Tokyo 113-8510 , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1216-7468","authenticated-orcid":false,"given":"Junya","family":"Hasegawa","sequence":"additional","affiliation":[{"name":"Medical Research Institute, Tokyo Medical and Dental University (TMDU) 2 Department of Biochemical Pathophysiology , , Tokyo 113-8510 , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoshi","family":"Miyashita","sequence":"additional","affiliation":[{"name":"National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP) 3 Department of Biochemistry and Cellular Biology , , Tokyo 187-8502 , Japan"},{"name":"Department of System Pathology for Neurological Disorders, Brain Research Institute, Niigata University 4 , Niigata 9518585 , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mikio","family":"Hoshino","sequence":"additional","affiliation":[{"name":"National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP) 3 Department of Biochemistry and Cellular Biology , , Tokyo 187-8502 , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Junko","family":"Sasaki","sequence":"additional","affiliation":[{"name":"Medical Research Institute, Tokyo Medical and Dental University (TMDU) 2 Department of Biochemical Pathophysiology , , Tokyo 113-8510 , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takehiko","family":"Sasaki","sequence":"additional","affiliation":[{"name":"Medical Research Institute, Tokyo Medical and Dental University (TMDU) 2 Department of Biochemical Pathophysiology , , Tokyo 113-8510 , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4493-6604","authenticated-orcid":false,"given":"Hirohide","family":"Takebayashi","sequence":"additional","affiliation":[{"name":"Graduate School of Medical and Dental Sciences, Niigata University 1 Division of Neurobiology and Anatomy , , Niigata 951-8510 , Japan"},{"name":"Center for Coordination of Research Facilities (CCRF), Niigata University 5 , Niigata 951-8510 , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"237","published-online":{"date-parts":[[2023,7,28]]},"reference":[{"key":"2023072808424109000_DMM050169C1","doi-asserted-by":"publisher","first-page":"877","DOI":"10.1038\/ncomms1880","article-title":"Loss-of-function of inositol polyphosphate-4-phosphatase reversibly increases the severity of allergic airway inflammation","volume":"3","author":"Aich","year":"2012","journal-title":"Nat. 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