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A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy.
Figueroa KP, Gross C, Buena-Atienza E, Paul S, Gandelman M, Kakar N, Sturm M, Casadei N, Admard J, Park J, Zühlke C, Hellenbroich Y, Pozojevic J, Balachandran S, Händler K, Zittel S, Timmann D, Erdlenbruch F, Herrmann L, Feindt T, Zenker M, Klopstock T, Dufke C, Scoles DR, Koeppen A, Spielmann M, Riess O, Ossowski S, Haack TB, Pulst SM. Figueroa KP, et al. Among authors: paul s. Nat Genet. 2024 Apr 29. doi: 10.1038/s41588-024-01719-5. Online ahead of print. Nat Genet. 2024. PMID: 38684900
Ataxin-2 regulates RGS8 translation in a new BAC-SCA2 transgenic mouse model.
Dansithong W, Paul S, Figueroa KP, Rinehart MD, Wiest S, Pflieger LT, Scoles DR, Pulst SM. Dansithong W, et al. Among authors: paul s. PLoS Genet. 2015 Apr 22;11(4):e1005182. doi: 10.1371/journal.pgen.1005182. eCollection 2015 Apr. PLoS Genet. 2015. PMID: 25902068 Free PMC article.
Spontaneous shaker rat mutant - a new model for X-linked tremor/ataxia.
Figueroa KP, Paul S, Calì T, Lopreiato R, Karan S, Frizzarin M, Ames D, Zanni G, Brini M, Dansithong W, Milash B, Scoles DR, Carafoli E, Pulst SM. Figueroa KP, et al. Among authors: paul s. Dis Model Mech. 2016 May 1;9(5):553-62. doi: 10.1242/dmm.022848. Epub 2016 Mar 24. Dis Model Mech. 2016. PMID: 27013529 Free PMC article.
Antisense oligonucleotide therapy for spinocerebellar ataxia type 2.
Scoles DR, Meera P, Schneider MD, Paul S, Dansithong W, Figueroa KP, Hung G, Rigo F, Bennett CF, Otis TS, Pulst SM. Scoles DR, et al. Among authors: paul s. Nature. 2017 Apr 20;544(7650):362-366. doi: 10.1038/nature22044. Epub 2017 Apr 12. Nature. 2017. PMID: 28405024 Free PMC article.
MTSS1/Src family kinase dysregulation underlies multiple inherited ataxias.
Brown AS, Meera P, Altindag B, Chopra R, Perkins EM, Paul S, Scoles DR, Tarapore E, Magri J, Huang H, Jackson M, Shakkottai VG, Otis TS, Pulst SM, Atwood SX, Oro AE. Brown AS, et al. Among authors: paul s. Proc Natl Acad Sci U S A. 2018 Dec 26;115(52):E12407-E12416. doi: 10.1073/pnas.1816177115. Epub 2018 Dec 7. Proc Natl Acad Sci U S A. 2018. PMID: 30530649 Free PMC article.
6,113 results