J. Hewett

发表

TorsinA in PC12 cells: Localization in the endoplasmic reticulum and response to stress

Vijaya Ramesh, X. Breakefield, P. Hanson, 2003, Journal of neuroscience research.

Identification of a novel NAMPT inhibitor by CRISPR/Cas9 chemogenomic profiling in mammalian cells

Gregory McAllister, Sven Schuierer, Gregory R. Hoffman, 2017, Scientific Reports.

Structure based design of nicotinamide phosphoribosyltransferase (NAMPT) inhibitors from a phenotypic screen.

Scott A. Busby, Daniel S. Palacios, W. Weihofen, 2017, Bioorganic & medicinal chemistry letters.

A Highly Sensitive Assay for Monitoring the Secretory Pathway and ER Stress

X. Breakefield, B. Tannous, C. Badr, 2007, PloS one.

Scaffold Morphing Identifies 3-Pyridyl Azetidine Ureas as Inhibitors of Nicotinamide Phosphoribosyltransferase (NAMPT).

Daniel S. Palacios, W. Weihofen, Xin Chen, 2019, ACS medicinal chemistry letters.

A Close Association of TorsinA and α-Synuclein in Lewy Bodies

B. Hyman, X. Breakefield, P. McLean, 2001 .

Chemical enhancement of torsinA function in cell and animal models of torsion dystonia

X. Breakefield, Yuqing Li, Songsong Cao, 2010, Disease Models & Mechanisms.

The early-onset torsion dystonia-associated protein, torsinA, is a homeostatic regulator of endoplasmic reticulum stress response.

X. Breakefield, K. Caldwell, G. Caldwell, 2010, Human molecular genetics.

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

N. Risch, M. Brin, D. Corey, 1997, Nature Genetics.

Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics

X. Breakefield, D. Bragg, J. Zeng, 2006, Neurobiology of Disease.

TorsinA expression is detectable in human infants as young as 4 weeks old.

J. Hedreen, X. Breakefield, W. Schulz-Schaeffer, 2005, Brain research. Developmental brain research.

TorsinB – perinuclear location and association with torsinA

X. Breakefield, P. Hanson, R. Beauchamp, 2004, Journal of neurochemistry.

Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells.

X. Breakefield, C. Gonzalez-agosti, V. Ramesh, 2000, Human molecular genetics.

TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton

A. Sonnenberg, X. Breakefield, D. Irimia, 2008, Journal of Cell Science.

Functional coexpression of HSV-1 thymidine kinase and green fluorescent protein: implications for noninvasive imaging of transgene expression.

A. Jacobs, X. Breakefield, M. Sadelain, 1999, Neoplasia.

siRNA knock-down of mutant torsinA restores processing through secretory pathway in DYT1 dystonia cells.

X. Breakefield, B. Tannous, P. Hadwiger, 2008, Human molecular genetics.

Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells

X. Breakefield, B. Tannous, J. Zeng, 2007, Proceedings of the National Academy of Sciences.

TorsinA and heat shock proteins act as molecular chaperones: suppression of α‐synuclein aggregation

Nutan Sharma, B. Hyman, X. Breakefield, 2002, Journal of neurochemistry.

Identification of Cardiac Glycoside Molecules as Inhibitors of c-Myc IRES-Mediated Translation

D. Selinger, V. Myer, A. Schuffenhauer, 2013, Journal of biomolecular screening.

TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion

S. Augood, J. Hedreen, X. Breakefield, 2003, Neurobiology of Disease.

The TOR1A (DYT1) gene family and its role in early onset torsion dystonia.

M. Brin, D. Corey, X. Breakefield, 1999, Genomics.

The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews.

R E Burke, C Moskowitz, T Gasser, 1994, American journal of human genetics.

The Early Onset Dystonia Protein TorsinA Interacts with Kinesin Light Chain 1*

D. Corey, X. Breakefield, P. Hanson, 2004, Journal of Biological Chemistry.

TorsinB expression in the developing human brain

J. Hedreen, X. Breakefield, W. Schulz-Schaeffer, 2006, Brain Research.

Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium.

N. Risch, M. Brin, J. Gusella, 1997, Genome research.

Principles of molecular genetics/Dystonia

N. Risch, M. Brin, J. Gusella, 1992 .

Distribution and ultrastructural localization of torsinA immunoreactivity in the human brain

S. Augood, X. Breakefield, D. Standaert, 2003, Brain Research.

The gene (DYT1) for early-onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family.

N. Risch, M. Brin, J. Penney, 1998, Advances in neurology.

A close association of torsinA and alpha-synuclein in Lewy bodies: a fluorescence resonance energy transfer study.

B. Hyman, X. Breakefield, L. Ozelius, 2001, The American journal of pathology.

Chemical enhancement of torsinA function in cell and animal models of torsion dystonia

X. Breakefield, Yuqing Li, Songsong Cao, 2010, Disease Models & Mechanisms.

The early-onset torsion dystonia-associated protein, torsinA, is a homeostatic regulator of endoplasmic reticulum stress response.

X. Breakefield, K. Caldwell, G. Caldwell, 2010, Human molecular genetics.