Is the gene expression of TAF1 modified by the X-linked dystonia-parkinsonism-associated hexanucleotide repeat?

被引：0
|
作者：
Gruetz, K.
Schaake, S.
Laabs, B.
Reyes, C. J.
Walter, U.
Dressler, D.
Jamora, R. D.
Rosales, R. L.
Brueggemann, N.
Lohmann, K.
Koenig, I. R.
Klein, C.
Westenberger, A.
机构：
来源：
MOVEMENT DISORDERS | 2019年 / 34卷
关键词：
GENOME;
D O I：
暂无
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
438
引用
收藏
页码：S177 / S177
页数：1
相关论文
共 50 条
  • [11] Dissection of TAF1 neuronal splicing and implications for neurodegeneration in X-linked dystonia-parkinsonism
    Capponi, Simona
    Stoeffler, Nadja
    Penney, Ellen B.
    Gruetz, Karen
    Nizamuddin, Sheikh
    Vermunt, Marit W.
    Castelijns, Bas
    Fernandez-Cerado, Cara
    Legarda, G. Paul
    Velasco-Andrada, M. Salvie
    Munoz, Edwin L.
    Ang, Mark A.
    Diesta, Cid Czarina E.
    Creyghton, Menno P.
    Klein, Christine
    Bragg, D. Cristopher
    De Rijk, Peter
    Timmers, H. T. Marc
    BRAIN COMMUNICATIONS, 2021, 3 (04)
  • [12] Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1
    Bragg, D. Cristopher
    Mangkalaphiban, Kotchaphorn
    Vaine, Christine A.
    Kulkarni, Nichita J.
    Shin, David
    Yadav, Rachita
    Dhakal, Jyotsna
    Ton, Mai-Linh
    Cheng, Anne
    Russo, Christopher T.
    Ang, Mark
    Acuna, Patrick
    Go, Criscely
    Franceour, Taylor N.
    Multhaupt-Buell, Trisha
    Ito, Naoto
    Mueller, Ulrich
    Hendriks, William T.
    Breakefield, Xandra O.
    Sharma, Nutan
    Ozelius, Laurie J.
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2017, 114 (51) : E11020 - E11028
  • [13] Disease onset in X-linked Dystonia-Parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1
    Bragg, D. Cristopher
    Kulkarni, Nichita
    Vaine, Christine A.
    Yadav, Rachita
    Ton, Mai-Linh
    Acuna, Patrick
    Go, Criscely
    Multhaupt-Buell, Trisha
    Muller, Ulrich
    Breakefield, Xandra O.
    Ozelius, Laurie
    NEUROLOGY, 2018, 90
  • [14] TAF1 and its isoforms is underexpressed in different endogenous models of X-linked dystonia-Parkinsonism
    Domingo, A.
    Gruetz, K.
    Seibler, P.
    Capetian, P.
    Lee, L. V.
    Rosales, R.
    Jamora, R. D.
    Westenberger, A.
    Rakovic, A.
    Klein, C.
    MOVEMENT DISORDERS, 2016, 31 : S192 - S192
  • [15] The TAF1/DYT3 multiple transcript system in X-linked dystonia-parkinsonism
    Mueller, Ulrich
    Herzfeld, Thilo
    Nolte, Dagmar
    AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 81 (02) : 415 - 417
  • [16] Striatal Neurodegeneration in Female Carriers of the TAF1 Mutation Causing X-linked Dystonia-Parkinsonism
    Hanssen, H.
    Dy, J.
    Tantianpact, J.
    Heldmann, M.
    Manalo, H.
    Klein, C.
    Westenberger, A.
    Oropilla, J.
    Diesta, C.
    Brueggemann, N.
    MOVEMENT DISORDERS, 2023, 38 : S455 - S456
  • [17] Striatal Cholinergic Dysregulation after Neonatal Decrease in X-Linked Dystonia Parkinsonism-Related TAF1 Isoforms
    Cirnaru, Maria-Daniela
    Creus-Muncunill, Jordi
    Nelson, Shareen
    Lewis, Travis
    Watson, Jaime
    Ellerby, Lisa M.
    Gonzalez-Alegre, Pedro
    Ehrlich, Michelle E.
    MOVEMENT DISORDERS, 2021, 36 (12) : 2780 - 2794
  • [18] Genome Editing in Induced Pluripotent Stem Cells Rescues TAF1 Levels in X-Linked Dystonia-Parkinsonism
    Rakovic, Aleksandar
    Domingo, Aloysius
    Gruetz, Karen
    Kulikovskaja, Leonora
    Capetian, Philipp
    Cowley, Sally A.
    Lenz, Insa
    Brueggemann, Norbert
    Rosales, Raymond
    Jamora, Dominic
    Rolfs, Arndt
    Seibler, Philip
    Westenberger, Ana
    Koenig, Inke
    Klein, Christine
    MOVEMENT DISORDERS, 2018, 33 (07) : 1108 - 1118
  • [19] Pathogenic SREK1 decrease in Huntington's disease lowers TAF1 mimicking X-linked dystonia parkinsonism
    Hernandez, Ivo H.
    Cabrera, Jorge R.
    Santos-Galindo, Maria
    Sanchez-Martin, Manuel
    Dominguez, Veronica
    Garcia-Escudero, Ramon
    Perez-Alvarez, Maria J.
    Pintado, Belen
    Lucas, Jose J.
    BRAIN, 2020, 143 : 2207 - 2219
  • [20] Disturbances of Basal Ganglia and Cerebellar Bioenergetics in Patients with X-linked Dystonia-Parkinsonism and Heterozygous TAF1 Insertion Carriers
    Prasuhn, Jannik
    Henkel, Julia
    Westenberger, Ana
    Uter, Jan
    Rosales, Raymond L.
    Klein, Christine
    Steinhardt, Julia
    Diesta, Cid C.
    Brueggemann, Norbert
    ANNALS OF NEUROLOGY, 2023, 94 : S170 - S171
12345