Gene Review:
PAFAH1B1 - platelet-activating factor acetylhydrolase...
Homo sapiens
Synonyms:
LIS-1, LIS1, LIS2, Lissencephaly-1 protein, MDCR, ...
- Genetic malformations of the cerebral cortex and epilepsy. Guerrini, R. Epilepsia (2005)
- LIS1 association with dynactin is required for nuclear motility and genomic union in the fertilized mammalian oocyte. Payne, C., St John, J.C., Ramalho-Santos, J., Schatten, G. Cell Motil. Cytoskeleton (2003)
- Lissencephaly 1 linking to multiple diseases: mental retardation, neurodegeneration, schizophrenia, male sterility, and more. Reiner, O., Sapoznik, S., Sapir, T. Neuromolecular Med. (2006)
- Poliovirus protein 3A binds and inactivates LIS1, causing block of membrane protein trafficking and deregulation of cell division. Kondratova, A.A., Neznanov, N., Kondratov, R.V., Gudkov, A.V. Cell Cycle (2005)
- Role of dynein, dynactin, and CLIP-170 interactions in LIS1 kinetochore function. Tai, C.Y., Dujardin, D.L., Faulkner, N.E., Vallee, R.B. J. Cell Biol. (2002)
- LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Pilz, D.T., Matsumoto, N., Minnerath, S., Mills, P., Gleeson, J.G., Allen, K.M., Walsh, C.A., Barkovich, A.J., Dobyns, W.B., Ledbetter, D.H., Ross, M.E. Hum. Mol. Genet. (1998)
- Reelin mutations in mouse and man: from reeler mouse to schizophrenia, mood disorders, autism and lissencephaly. Fatemi, S.H. Mol. Psychiatry (2001)
- Interaction of reelin signaling and Lis1 in brain development. Assadi, A.H., Zhang, G., Beffert, U., McNeil, R.S., Renfro, A.L., Niu, S., Quattrocchi, C.C., Antalffy, B.A., Sheldon, M., Armstrong, D.D., Wynshaw-Boris, A., Herz, J., D'Arcangelo, G., Clark, G.D. Nat. Genet. (2003)
- Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Kitamura, K., Yanazawa, M., Sugiyama, N., Miura, H., Iizuka-Kogo, A., Kusaka, M., Omichi, K., Suzuki, R., Kato-Fukui, Y., Kamiirisa, K., Matsuo, M., Kamijo, S., Kasahara, M., Yoshioka, H., Ogata, T., Fukuda, T., Kondo, I., Kato, M., Dobyns, W.B., Yokoyama, M., Morohashi, K. Nat. Genet. (2002)
- Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Hong, S.E., Shugart, Y.Y., Huang, D.T., Shahwan, S.A., Grant, P.E., Hourihane, J.O., Martin, N.D., Walsh, C.A. Nat. Genet. (2000)
- Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa. Sullivan, L.S., Heckenlively, J.R., Bowne, S.J., Zuo, J., Hide, W.A., Gal, A., Denton, M., Inglehearn, C.F., Blanton, S.H., Daiger, S.P. Nat. Genet. (1999)
- Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality. Hirotsune, S., Fleck, M.W., Gambello, M.J., Bix, G.J., Chen, A., Clark, G.D., Ledbetter, D.H., McBain, C.J., Wynshaw-Boris, A. Nat. Genet. (1998)
- Increased plasma level of platelet-activating factor (PAF) and decreased serum PAF acetylhydrolase (PAFAH) activity in adults with bronchial asthma. Tsukioka, K., Matsuzaki, M., Nakamata, M., Kayahara, H., Nakagawa, T. Journal of investigational allergology & clinical immunology : official organ of the International Association of Asthmology (INTERASMA) and Sociedad Latinoamericana de Alergia e Inmunología. (1996)
- PAF acetylhydrolase and arachidonic acid metabolite levels in patients with sepsis. Takakuwa, T., Endo, S., Nakae, H., Kikichi, M., Inada, K., Yoshida, M. Res. Commun. Chem. Pathol. Pharmacol. (1994)
- Relationships between plasma levels of type-II phospholipase A2, PAF-acetylhydrolase, leukotriene B4, complements, endothelin-1, and thrombomodulin in patients with sepsis. Takakuwa, T., Endo, S., Nakae, H., Suzuki, T., Inada, K., Yoshida, M., Ogawa, M., Uchida, K. Res. Commun. Chem. Pathol. Pharmacol. (1994)
- Spectrum of neural-tube defects in 34 infants prenatally exposed to antiepileptic drugs. Lindhout, D., Omtzigt, J.G., Cornel, M.C. Neurology (1992)
- Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Reiner, O., Carrozzo, R., Shen, Y., Wehnert, M., Faustinella, F., Dobyns, W.B., Caskey, C.T., Ledbetter, D.H. Nature (1993)
- NUDEL is a novel Cdk5 substrate that associates with LIS1 and cytoplasmic dynein. Niethammer, M., Smith, D.S., Ayala, R., Peng, J., Ko, J., Lee, M.S., Morabito, M., Tsai, L.H. Neuron (2000)
- A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Chong, S.S., Pack, S.D., Roschke, A.V., Tanigami, A., Carrozzo, R., Smith, A.C., Dobyns, W.B., Ledbetter, D.H. Hum. Mol. Genet. (1997)
- LIS2, gene and pseudogene, homologous to LIS1 (lissencephaly 1), located on the short and long arms of chromosome 2. Reiner, O., Bar-Am, I., Sapir, T., Shmueli, O., Carrozzo, R., Lindsay, E.A., Baldini, A., Ledbetter, D.H., Cahana, A. Genomics (1995)
- Neuronal migration. Lambert de Rouvroit, C., Goffinet, A.M. Mech. Dev. (2001)
- Lissencephaly with agenesis of corpus callosum and rudimentary dysplastic cerebellum: a subtype of lissencephaly with cerebellar hypoplasia. Miyata, H., Chute, D.J., Fink, J., Villablanca, P., Vinters, H.V. Acta Neuropathol. (2004)
- A new paradigm for West syndrome based on molecular and cell biology. Kato, M. Epilepsy Res. (2006)
- Genetic interactions among cortical malformation genes that influence susceptibility to convulsions in C. elegans. Locke, C.J., Williams, S.N., Schwarz, E.M., Caldwell, G.A., Caldwell, K.A. Brain Res. (2006)
- Evidence for an association between plasma platelet-activating factor acetylhydrolase deficiency and increased risk of childhood atopic asthma. Ito, S., Noguchi, E., Shibasaki, M., Yamakawa-Kobayashi, K., Watanabe, H., Arinami, T. J. Hum. Genet. (2002)
- Clinical and molecular diagnosis of Miller-Dieker syndrome. Dobyns, W.B., Curry, C.J., Hoyme, H.E., Turlington, L., Ledbetter, D.H. Am. J. Hum. Genet. (1991)
- Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain. Nothwang, H.G., Kim, H.G., Aoki, J., Geisterfer, M., Kübart, S., Wegner, R.D., van Moers, A., Ashworth, L.K., Haaf, T., Bell, J., Arai, H., Tommerup, N., Ropers, H.H., Wirth, J. Hum. Mol. Genet. (2001)
- NDEL1 phosphorylation by Aurora-A kinase is essential for centrosomal maturation, separation, and TACC3 recruitment. Mori, D., Yano, Y., Toyo-oka, K., Yoshida, N., Yamada, M., Muramatsu, M., Zhang, D., Saya, H., Toyoshima, Y.Y., Kinoshita, K., Wynshaw-Boris, A., Hirotsune, S. Mol. Cell. Biol. (2007)
- Interaction between LIS1 and doublecortin, two lissencephaly gene products. Caspi, M., Atlas, R., Kantor, A., Sapir, T., Reiner, O. Hum. Mol. Genet. (2000)
- Diagnostic features and clinical signs of 21 patients with lissencephaly type 1. de Rijk-van Andel, J.F., Arts, W.F., Barth, P.G., Loonen, M.C. Developmental medicine and child neurology. (1990)
- Cloning and expression of a cDNA encoding the beta-subunit (30-kDa subunit) of bovine brain platelet-activating factor acetylhydrolase. Hattori, M., Adachi, H., Aoki, J., Tsujimoto, M., Arai, H., Inoue, K. J. Biol. Chem. (1995)
- Human Nudel and NudE as regulators of cytoplasmic dynein in poleward protein transport along the mitotic spindle. Yan, X., Li, F., Liang, Y., Shen, Y., Zhao, X., Huang, Q., Zhu, X. Mol. Cell. Biol. (2003)
- Relationship between plasma levels of type II phospholipase A2, PAF acetylhydrolase, endothelin-1, and thrombomodulin in patients with infected burns. Takakuwa, T., Endo, S., Nakae, H., Yamada, Y., Inada, K., Yoshida, M., Ogawa, M., Uchida, K. Res. Commun. Mol. Pathol. Pharmacol. (1994)
- Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase [corrected]. Hattori, M., Adachi, H., Tsujimoto, M., Arai, H., Inoue, K. Nature (1994)
- Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be different. Viot, G., Sonigo, P., Simon, I., Simon-Bouy, B., Chadeyron, F., Beldjord, C., Tantau, J., Martinovic, J., Esculpavit, C., Brunelle, F., Munnich, A., Vekemans, M., Encha-Razavi, F. Am. J. Med. Genet. A (2004)