Richman R - Search Results

1

Fragile X-like behaviors and abnormal cortical dendritic spines in cytoplasmic FMR1-interacting protein 2-mutant mice.

Han K, Chen H, Gennarino VA, Richman R, Lu HC, Zoghbi HY. Han K, et al. Among authors: richman r. Hum Mol Genet. 2015 Apr 1;24(7):1813-23. doi: 10.1093/hmg/ddu595. Epub 2014 Nov 28. Hum Mol Genet. 2015. PMID: 25432536 Free PMC article.

2

Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.

Collins AL, Levenson JM, Vilaythong AP, Richman R, Armstrong DL, Noebels JL, David Sweatt J, Zoghbi HY. Collins AL, et al. Among authors: richman r. Hum Mol Genet. 2004 Nov 1;13(21):2679-89. doi: 10.1093/hmg/ddh282. Epub 2004 Sep 6. Hum Mol Genet. 2004. PMID: 15351775

3

Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes.

Bowman AB, Lam YC, Jafar-Nejad P, Chen HK, Richman R, Samaco RC, Fryer JD, Kahle JJ, Orr HT, Zoghbi HY. Bowman AB, et al. Among authors: richman r. Nat Genet. 2007 Mar;39(3):373-9. doi: 10.1038/ng1977. Epub 2007 Feb 18. Nat Genet. 2007. PMID: 17322884

4

Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.

Lu HC, Tan Q, Rousseaux MW, Wang W, Kim JY, Richman R, Wan YW, Yeh SY, Patel JM, Liu X, Lin T, Lee Y, Fryer JD, Han J, Chahrour M, Finnell RH, Lei Y, Zurita-Jimenez ME, Ahimaz P, Anyane-Yeboa K, Van Maldergem L, Lehalle D, Jean-Marcais N, Mosca-Boidron AL, Thevenon J, Cousin MA, Bro DE, Lanpher BC, Klee EW, Alexander N, Bainbridge MN, Orr HT, Sillitoe RV, Ljungberg MC, Liu Z, Schaaf CP, Zoghbi HY. Lu HC, et al. Among authors: richman r. Nat Genet. 2017 Apr;49(4):527-536. doi: 10.1038/ng.3808. Epub 2017 Mar 13. Nat Genet. 2017. PMID: 28288114 Free PMC article.

5

RBM17 Interacts with U2SURP and CHERP to Regulate Expression and Splicing of RNA-Processing Proteins.

De Maio A, Yalamanchili HK, Adamski CJ, Gennarino VA, Liu Z, Qin J, Jung SY, Richman R, Orr H, Zoghbi HY. De Maio A, et al. Among authors: richman r. Cell Rep. 2018 Oct 16;25(3):726-736.e7. doi: 10.1016/j.celrep.2018.09.041. Cell Rep. 2018. PMID: 30332651 Free PMC article.

6

An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function.

Wang L, Pang K, Han K, Adamski CJ, Wang W, He L, Lai JK, Bondar VV, Duman JG, Richman R, Tolias KF, Barth P, Palzkill T, Liu Z, Holder JL Jr, Zoghbi HY. Wang L, et al. Among authors: richman r. Mol Psychiatry. 2020 Oct;25(10):2534-2555. doi: 10.1038/s41380-018-0324-x. Epub 2019 Jan 4. Mol Psychiatry. 2020. PMID: 30610205 Free PMC article.

7

Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2.

Young JI, Hong EP, Castle JC, Crespo-Barreto J, Bowman AB, Rose MF, Kang D, Richman R, Johnson JM, Berget S, Zoghbi HY. Young JI, et al. Among authors: richman r. Proc Natl Acad Sci U S A. 2005 Dec 6;102(49):17551-8. doi: 10.1073/pnas.0507856102. Epub 2005 Oct 26. Proc Natl Acad Sci U S A. 2005. PMID: 16251272 Free PMC article.

8

Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1.

Lim J, Crespo-Barreto J, Jafar-Nejad P, Bowman AB, Richman R, Hill DE, Orr HT, Zoghbi HY. Lim J, et al. Among authors: richman r. Nature. 2008 Apr 10;452(7188):713-8. doi: 10.1038/nature06731. Epub 2008 Mar 12. Nature. 2008. PMID: 18337722 Free PMC article.

9

Regional rescue of spinocerebellar ataxia type 1 phenotypes by 14-3-3epsilon haploinsufficiency in mice underscores complex pathogenicity in neurodegeneration.

Jafar-Nejad P, Ward CS, Richman R, Orr HT, Zoghbi HY. Jafar-Nejad P, et al. Among authors: richman r. Proc Natl Acad Sci U S A. 2011 Feb 1;108(5):2142-7. doi: 10.1073/pnas.1018748108. Epub 2011 Jan 18. Proc Natl Acad Sci U S A. 2011. PMID: 21245341 Free PMC article.

10

RAS-MAPK-MSK1 pathway modulates ataxin 1 protein levels and toxicity in SCA1.

Park J, Al-Ramahi I, Tan Q, Mollema N, Diaz-Garcia JR, Gallego-Flores T, Lu HC, Lagalwar S, Duvick L, Kang H, Lee Y, Jafar-Nejad P, Sayegh LS, Richman R, Liu X, Gao Y, Shaw CA, Arthur JSC, Orr HT, Westbrook TF, Botas J, Zoghbi HY. Park J, et al. Among authors: richman r. Nature. 2013 Jun 20;498(7454):325-331. doi: 10.1038/nature12204. Epub 2013 May 29. Nature. 2013. PMID: 23719381 Free PMC article.

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