| 1 | ACTL6B, MREES
|
| Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
|
| Bell S, Rousseau J, Peng H, Aouabed Z, Priam P, Theroux JF, Jefri M, Tanti A, Wu H, Kolobova I, Silviera H, Manzano-Vargas K, Ehresmann S, Hamdan FF, Hettige N, Zhang X, Antonyan L, Nassif C, Ghaloul-Gonzalez L, Sebastian J, Vockley J, Begtrup AG, Wentzensen IM, Crunk A, Nicholls RD, Herman KC, Deignan JL, Al-Hertani W, Efthymiou S, Salpietro V, Miyake N, Makita Y, Matsumoto N, Řstern R, Houge G, Hafström M, Fassi E, Houlden H, Klein Wassink-Ruiter JS, Nelson D, Goldstein A, Dabir T, van Gils J, Bourgeron T, Delorme R, Cooper GM, Martinez JE, Finnila CR, Carmant L, Lortie A, Oegema R, van Gassen K, Mehta SG, Huhle D, Abou Jamra R, Martin S, Brunner HG, Lindhout D, Au M, Graham JM Jr, Coubes C, Turecki G, Gravel S, Mechawar N, Rossignol E, Michaud JL, Lessard J, Ernst C, Campeau PM.
|
| Am J Hum Genet 104(5):815-834. doi: 10.1016/j.ajhg.2019.03.022. Epub 2019 Apr 25.
2019
|
| 2 | ACTL6B, MREES
|
| Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
|
| Yüksel Z, Yazol M, Gümüş E.
|
| Am J Med Genet A m J Med Genet A. 2019 May 27. doi: 10.1002/ajmg.a.61210. [Epub ahead of print]
2019
|
| 3 | ACTL6B, MREES
|
| Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy.
|
| Fichera M, Failla P, Saccuzzo L, Miceli M, Salvo E, Castiglia L, Galesi O, Grillo L, Calě F, Greco D, Amato C, Romano C, Elia M.
|
| Hum Genet 138(2):187-198. doi: 10.1007/s00439-019-01972-3. Epub 2019 Jan 17.
2019
|
| 4 | ACTL6B, HDAC3
|
| Deleting HDAC3 rescues long-term memory impairments induced by disruption of the neuron-specific chromatin remodeling subunit BAF53b.
|
| Shu G, Kramár EA, López AJ, Huynh G, Wood MA, Kwapis JL.
|
| Learn Mem 25(3):109-114. doi: 10.1101/lm.046920.117. Print 2018 Mar.
2018
|
| 5 | ACTL6B
|
| Mutation of neuron-specific chromatin remodeling subunit BAF53b: rescue of plasticity and memory by manipulating actin remodeling.
|
| Vogel Ciernia A, Kramár EA, Matheos DP, Havekes R, Hemstedt TJ, Magnan CN, Sakata K, Tran A, Azzawi S, Lopez A, Dang R, Wang W, Trieu B, Tong J, Barrett RM, Post RJ, Baldi P, Abel T, Lynch G, Wood MA.
|
| Learn Mem 24(5):199-209. doi: 10.1101/lm.044602.116. Print 2017 May.
2017
|
| 6 | ACTL6B
|
| BAF53b, a Neuron-Specific Nucleosome Remodeling Factor, Is Induced after Learning and Facilitates Long-Term Memory Consolidation.
|
| Yoo M, Choi KY, Kim J, Kim M, Shim J, Choi JH, Cho HY, Oh JP, Kim HS, Kaang BK, Han JH.
|
| J Neurosci 37(13):3686-3697. doi: 10.1523/JNEUROSCI.3220-16.2017. Epub 2017 Mar 7.
2017
|
| 7 | ACTL6B, BDNF
|
| BDNF rescues BAF53b-dependent synaptic plasticity and cocaine-associated memory in the nucleus accumbens.
|
| White AO, Kramár EA, López AJ, Kwapis JL, Doan J, Saldana D, Davatolhagh MF, Alaghband Y, Blurton-Jones M, Matheos DP, Wood MA.
|
| Nat Commun 7:11725. doi: 10.1038/ncomms11725.
2016
|
| 8 | ACTL6B
|
| The neuron-specific chromatin regulatory subunit BAF53b is necessary for synaptic plasticity and memory.
|
| Vogel-Ciernia A, Matheos DP, Barrett RM, Kramár EA, Azzawi S, Chen Y, Magnan CN, Zeller M, Sylvain A, Haettig J, Jia Y, Tran A, Dang R, Post RJ, Chabrier M, Babayan AH, Wu JI, Crabtree GR, Baldi P, Baram TZ, Lynch G, Wood MA.
|
| Nat Neurosci 16(5):552-61. doi: 10.1038/nn.3359. Epub 2013 Mar 24.
2013
|
| 9 | ACTL6B
|
| The brain-specific actin-related protein ArpN alpha interacts with the transcriptional co-repressor CtBP.
|
| Oma Y, Nishimori K, Harata M.
|
| Biochem Biophys Res Commun 301(2):521-8.
2003
|
| 10 | ACTL6B, ACTL6A
|
| Brain-specific expression of the nuclear actin-related protein ArpNalpha and its involvement in mammalian SWI/SNF chromatin remodeling complex.
|
| Kuroda Y, Oma Y, Nishimori K, Ohta T, Harata M.
|
| Biochem Biophys Res Commun 299(2):328-34. 2002
|
| 11 | ACTL6B, SMARCA4
|
| Identification of a polymorphic, neuron-specific chromatin remodeling complex.
|
| Olave I, Wang W, Xue Y, Kuo A, Crabtree GR.
|
| Genes Dev 16(19):2509-17. 2002
|
| 12 | ACTL6B, ACTL6A
|
| Two isoforms of a human actin-related protein show nuclear localization and mutually selective expression between brain and other tissues.
|
| Harata M, Mochizuki R, Mizuno S.
|
| Biosci Biotechnol Biochem 63(5):917-23. 1999
|
| 13 | ACTL6B, AGFG2, CUX1, EPO, GIGYF1, GNB2, IRS3L, LRCH4, PCOLCE, RELN, SH2B2, TFR2
|
| Large-scale sequencing of two regions in human chromosome 7q22 : analysis of 650kb of genomic sequence around the EPO and CUTL1 loci reveals 17 genes.
|
| Glockner G, Scherer S, Schattevoy R, Boright A, Weber J, Tsui LC, Rosenthal A.
|
| Genome Res 8 : 1060-1073. 1998
|