Xandra Owens Breakefield, Ph.D.
This page shows the publications co-authored by Xandra Breakefield and Nutan Sharma.
Impaired motor learning in mice expressing torsinA with the DYT1 dystonia mutation. J Neurosci. 2005 Jun 01; 25(22):5351-5.
TAF1 Transcripts and Neurofilament Light Chain as Biomarkers for X-linked Dystonia-Parkinsonism. Mov Disord. 2021 01; 36(1):206-215.
Mutant Allele-Specific CRISPR Disruption in DYT1 Dystonia Fibroblasts Restores Cell Function. Mol Ther Nucleic Acids. 2020 Sep 04; 21:1-12.
Dopa-responsive dystonia: functional analysis of single nucleotide substitutions within the 5' untranslated GCH1 region. PLoS One. 2013; 8(10):e76975.
Molecular pathways in dystonia. Neurobiol Dis. 2011 May; 42(2):136-47.
A close association of torsinA and alpha-synuclein in Lewy bodies: a fluorescence resonance energy transfer study. Am J Pathol. 2001 Jul; 159(1):339-44.
Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly. Cell. 2018 02 22; 172(5):897-909.e21.
Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1. Proc Natl Acad Sci U S A. 2017 12 19; 114(51):E11020-E11028.
Decreased N-TAF1 expression in X-linked dystonia-parkinsonism patient-specific neural stem cells. Dis Model Mech. 2016 Apr; 9(4):451-62.
Dopamine release is impaired in a mouse model of DYT1 dystonia. J Neurochem. 2007 Aug; 102(3):783-8.
TorsinA and heat shock proteins act as molecular chaperones: suppression of alpha-synuclein aggregation. J Neurochem. 2002 Nov; 83(4):846-54.
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