Product References
DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 family.
Brain : a journal of neurology
Cheng F,Zheng W,Barbuti PA,Bonsi P,Liu C,Casadei N,Ponterio G,Meringolo M,Admard J,Dording CM,Yu-Taeger L,Nguyen HP,Grundmann-Hauser K,Ott T,Houlden H,Pisani A,Krüger R,Riess O
Mon Nov 21 00:00:00 UTC 2022
The dystonia gene THAP1 controls DNA double-strand break repair choice.
Molecular cell
Shinoda K,Zong D,Callen E,Wu W,Dumitrache LC,Belinky F,Chari R,Wong N,Ishikawa M,Stanlie A,Multhaupt-Buell T,Sharma N,Ozelius L,Ehrlich M,McKinnon PJ,Nussenzweig A
Thu Jun 17 00:00:00 UTC 2021
The dystonia gene THAP1 controls DNA double-strand break repair choice.
Molecular cell
Shinoda K,Zong D,Callen E,Wu W,Dumitrache LC,Belinky F,Chari R,Wong N,Ishikawa M,Stanlie A,Multhaupt-Buell T,Sharma N,Ozelius L,Ehrlich M,McKinnon PJ,Nussenzweig A
Thu Jun 17 00:00:00 UTC 2021
Unraveling Molecular Mechanisms of THAP1 Missense Mutations in DYT6 Dystonia.
Journal of molecular neuroscience : MN
Cheng F,Walter M,Wassouf Z,Hentrich T,Casadei N,Schulze-Hentrich J,Barbuti P,Krueger R,Riess O,Grundmann-Hauser K,Ott T
Wed Jul 01 00:00:00 UTC 2020
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
Nature genetics
Meyer E,Carss KJ,Rankin J,Nichols JM,Grozeva D,Joseph AP,Mencacci NE,Papandreou A,Ng J,Barral S,Ngoh A,Ben-Pazi H,Willemsen MA,Arkadir D,Barnicoat A,Bergman H,Bhate S,Boys A,Darin N,Foulds N,Gutowski N,Hills A,Houlden H,Hurst JA,Israel Z,Kaminska M,Limousin P,Lumsden D,McKee S,Misra S,Mohammed SS,Nakou V,Nicolai J,Nilsson M,Pall H,Peall KJ,Peters GB,Prabhakar P,Reuter MS,Rump P,Segel R,Sinnema M,Smith M,Turnpenny P,White SM,Wieczorek D,Wiethoff S,Wilson BT,Winter G,Wragg C,Pope S,Heales SJ,Morrogh D,Pittman A,Carr LJ,Perez-Dueñas B,Lin JP,Reis A,Gahl WA,Toro C,Bhatia KP,Wood NW,Kamsteeg EJ,Chong WK,Gissen P,Topf M,Dale RC,Chubb JR,Raymond FL,Kurian MA
Wed Feb 01 00:00:00 UTC 2017
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
Nature genetics
Meyer E,Carss KJ,Rankin J,Nichols JM,Grozeva D,Joseph AP,Mencacci NE,Papandreou A,Ng J,Barral S,Ngoh A,Ben-Pazi H,Willemsen MA,Arkadir D,Barnicoat A,Bergman H,Bhate S,Boys A,Darin N,Foulds N,Gutowski N,Hills A,Houlden H,Hurst JA,Israel Z,Kaminska M,Limousin P,Lumsden D,McKee S,Misra S,Mohammed SS,Nakou V,Nicolai J,Nilsson M,Pall H,Peall KJ,Peters GB,Prabhakar P,Reuter MS,Rump P,Segel R,Sinnema M,Smith M,Turnpenny P,White SM,Wieczorek D,Wiethoff S,Wilson BT,Winter G,Wragg C,Pope S,Heales SJ,Morrogh D,Pittman A,Carr LJ,Perez-Dueñas B,Lin JP,Reis A,Gahl WA,Toro C,Bhatia KP,Wood NW,Kamsteeg EJ,Chong WK,Gissen P,Topf M,Dale RC,Chubb JR,Raymond FL,Kurian MA
Wed Feb 01 00:00:00 UTC 2017
The DYT6 Dystonia Protein THAP1 Regulates Myelination within the Oligodendrocyte Lineage.
Developmental cell
Yellajoshyula D,Liang CC,Pappas SS,Penati S,Yang A,Mecano R,Kumaran R,Jou S,Cookson MR,Dauer WT
Mon Jul 10 00:00:00 UTC 2017
The DYT6 Dystonia Protein THAP1 Regulates Myelination within the Oligodendrocyte Lineage.
Developmental cell
Yellajoshyula D,Liang CC,Pappas SS,Penati S,Yang A,Mecano R,Kumaran R,Jou S,Cookson MR,Dauer WT
Mon Jul 10 00:00:00 UTC 2017
Abnormalities of motor function, transcription and cerebellar structure in mouse models of THAP1 dystonia.
Human molecular genetics
Ruiz M,Perez-Garcia G,Ortiz-Virumbrales M,Méneret A,Morant A,Kottwitz J,Fuchs T,Bonet J,Gonzalez-Alegre P,Hof PR,Ozelius LJ,Ehrlich ME
Sun Dec 20 00:00:00 UTC 2015
Abnormalities of motor function, transcription and cerebellar structure in mouse models of THAP1 dystonia.
Human molecular genetics
Ruiz M,Perez-Garcia G,Ortiz-Virumbrales M,Méneret A,Morant A,Kottwitz J,Fuchs T,Bonet J,Gonzalez-Alegre P,Hof PR,Ozelius LJ,Ehrlich ME
Sun Dec 20 00:00:00 UTC 2015
Stress-induced changes in gene interactions in human cells.
Nucleic acids research
Nayak RR,Bernal WE,Lee JW,Kearns MJ,Cheung VG
Sat Feb 01 00:00:00 UTC 2014
Stress-induced changes in gene interactions in human cells.
Nucleic acids research
Nayak RR,Bernal WE,Lee JW,Kearns MJ,Cheung VG
Sat Feb 01 00:00:00 UTC 2014
Dystonia type 6 gene product Thap1: identification of a 50 kDa DNA-binding species in neuronal nuclear fractions.
Acta neuropathologica communications
Ortiz-Virumbrales M,Ruiz M,Hone E,Dolios G,Wang R,Morant A,Kottwitz J,Ozelius LJ,Gandy S,Ehrlich ME
Thu Sep 18 00:00:00 UTC 2014
Dystonia type 6 gene product Thap1: identification of a 50 kDa DNA-binding species in neuronal nuclear fractions.
Acta neuropathologica communications
Ortiz-Virumbrales M,Ruiz M,Hone E,Dolios G,Wang R,Morant A,Kottwitz J,Ozelius LJ,Gandy S,Ehrlich ME
Thu Sep 18 00:00:00 UTC 2014
Dystonia type 6 gene product Thap1: identification of a 50 kDa DNA-binding species in neuronal nuclear fractions.
Acta neuropathologica communications
Ortiz-Virumbrales M,Ruiz M,Hone E,Dolios G,Wang R,Morant A,Kottwitz J,Ozelius LJ,Gandy S,Ehrlich ME
Thu Sep 18 00:00:00 UTC 2014
Neural expression of the transcription factor THAP1 during development in rat.
Neuroscience
Zhao Y,Xiao J,Gong S,Clara JA,Ledoux MS
Tue Feb 12 00:00:00 UTC 2013
Neural expression of the transcription factor THAP1 during development in rat.
Neuroscience
Zhao Y,Xiao J,Gong S,Clara JA,Ledoux MS
Tue Feb 12 00:00:00 UTC 2013
Neural expression of the transcription factor THAP1 during development in rat.
Neuroscience
Zhao Y,Xiao J,Gong S,Clara JA,Ledoux MS
Tue Feb 12 00:00:00 UTC 2013
Neural expression of the transcription factor THAP1 during development in rat.
Neuroscience
Zhao Y,Xiao J,Gong S,Clara JA,Ledoux MS
Tue Feb 12 00:00:00 UTC 2013
Direct interaction between causative genes of DYT1 and DYT6 primary dystonia.
Annals of neurology
Gavarini S,Cayrol C,Fuchs T,Lyons N,Ehrlich ME,Girard JP,Ozelius LJ
Fri Oct 01 00:00:00 UTC 2010
Direct interaction between causative genes of DYT1 and DYT6 primary dystonia.
Annals of neurology
Gavarini S,Cayrol C,Fuchs T,Lyons N,Ehrlich ME,Girard JP,Ozelius LJ
Fri Oct 01 00:00:00 UTC 2010
The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6).
Annals of neurology
Kaiser FJ,Osmanoric A,Rakovic A,Erogullari A,Uflacker N,Braunholz D,Lohnau T,Orolicki S,Albrecht M,Gillessen-Kaesbach G,Klein C,Lohmann K
Fri Oct 01 00:00:00 UTC 2010
The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6).
Annals of neurology
Kaiser FJ,Osmanoric A,Rakovic A,Erogullari A,Uflacker N,Braunholz D,Lohnau T,Orolicki S,Albrecht M,Gillessen-Kaesbach G,Klein C,Lohmann K
Fri Oct 01 00:00:00 UTC 2010