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Publications 2023
Spinocerebellar ataxia type 1: It's not just about Purkinje cells. https://doi.org/10.1016/j.neuron.2023.07.014 37591199 Reactive Bergmann glia play a central role in spinocerebellar ataxia inflammation via the JNK pathway. https://doi.org/10.1186/s12974-023-02801-1 37237366 Standards of Fluid Biomarker Collection and Pre-analytical Processes in Humans and Mice: Recommendations by the Ataxia Global Initiative Working Group on Biomarkers. https://doi.org/10.1007/s12311-023-01561-1 37243885 Gigaxonin is required for intermediate filament transport. https://doi.org/10.1096/fj.202202119R 37043392 Ataxia Global Initiative (AGI) Working Group Expert GuidanceNational Institutes of Health https://doi.org/10.1007/s12311-023-01547-z Standards of NGS Data Sharing and Analysis in AtaxiasNational Institutes of Health https://doi.org/10.1007/s12311-023-01537-1
2022
Clinically Meaningful Magnetic Resonance Endpoints Sensitive to Preataxic Spinocerebellar Ataxia Types 1 and 3. https://doi.org/10.1002/ana.26573 36511514 The S-Factor, a New Measure of Disease Severity in Spinocerebellar Ataxia: Findings and Implications. https://doi.org/10.1007/s12311-022-01424-1 35962273 Differential effects of Wnt-β-catenin signaling in Purkinje cells and Bergmann glia in spinocerebellar ataxia type 1. https://doi.org/10.1073/pnas.2208513119 35969780 Clinical Reasoning: A 77-Year-Old Man With Involuntary Movements, Sleep Changes, Falls, Bulbar Symptoms, and Cognitive Complaints. https://doi.org/10.1212/WNL.0000000000200705 35487699
2021
Pharmacological perturbation reveals deficits in D2 receptor responses in Thap1 null mice. https://doi.org/10.1002/acn3.51481 34802187 Spinocerebellar ataxia clinical trials: opportunities and challenges. https://doi.org/10.1002/acn3.51370 34019331 Developmental Alterations in Adult-Onset Neurodegenerative Disorders: Lessons from Polyglutamine Diseases. https://doi.org/10.1002/mds.28657 34014004 Rating scales and biomarkers for CAG-repeat spinocerebellar ataxias: Implications for therapy development. https://doi.org/10.1016/j.jns.2021.117417 33836316 Adapting to post-COVID19 research in Parkinson's disease: Lessons from a multinational experience. https://doi.org/10.1016/j.parkreldis.2020.10.009 33071183
2020
Neurological research & training after the easing of lockdown in countries impacted by COVID-19. https://doi.org/10.1016/j.jns.2020.117105 32980781 Purification of Prominin-1+ Stem Cells from Postnatal Mouse Cerebellum. https://doi.org/10.3791/60554 32338650
2019
The role of neurofilament aggregation in neurodegeneration: lessons from rare inherited neurological disorders. https://doi.org/10.1186/s13024-019-0318-4 31097008 Loss of the dystonia gene Thap1 leads to transcriptional deficits that converge on common pathogenic pathways in dystonic syndromes. https://doi.org/10.1093/hmg/ddy433 30590536 Self-assembling vascular endothelial growth factor nanoparticles improve function in spinocerebellar ataxia type 1. https://doi.org/10.1093/brain/awy328 30649233
2018
Trinucleotide Repeat Expansion Diseases, RNAi, and Cancer. https://doi.org/10.1016/j.trecan.2018.08.004 30292352 ANP32A regulates histone H3 acetylation and promotes leukemogenesis. https://doi.org/10.1038/s41375-018-0010-7 29467488 Mutant ataxin1 disrupts cerebellar development in spinocerebellar ataxia type 1. https://doi.org/10.1172/JCI96765 29533923
2017
ANP32A dysregulation contributes to abnormal megakaryopoiesis in acute megakaryoblastic leukemia. https://doi.org/10.1038/s41408-017-0031-x 29269781 Mutant Ataxin-1 Inhibits Neural Progenitor Cell Proliferation in SCA1. https://doi.org/10.1007/s12311-016-0794-9 27306906
2016
Advances in Sequencing Technologies for Understanding Hereditary Ataxias: A Review. https://doi.org/10.1001/jamaneurol.2016.3097 27749953 The role of gigaxonin in the degradation of the glial-specific intermediate filament protein GFAP. https://doi.org/10.1091/mbc.E16-06-0362 27798231 Paraneoplastic cerebellar degeneration with anti-Yo antibodies - a review. https://doi.org/10.1002/acn3.328 27606347 ISSN: 2328-9503Intermediate filament aggregates cause mitochondrial dysmotility and increase energy demands in giant axonal neuropathy. https://doi.org/10.1093/hmg/ddw081 27000625 Abnormal intermediate filament organization alters mitochondrial motility in giant axonal neuropathy fibroblasts. https://doi.org/10.1091/mbc.E15-09-0627 26700320
2015
Neuronal Atrophy Early in Degenerative Ataxia Is a Compensatory Mechanism to Regulate Membrane Excitability. https://doi.org/10.1523/JNEUROSCI.1357-15.2015 26269637 Early activation of microglia and astrocytes in mouse models of spinocerebellar ataxia type 1. https://doi.org/10.1016/j.neuroscience.2015.01.003 25595967 The promise and perils of HDAC inhibitors in neurodegeneration. https://doi.org/10.1002/acn3.147 25642438 ISSN: 2328-9503An investigation of diffusion imaging techniques in the evaluation of spinocerebellar ataxia and multisystem atrophy. https://doi.org/10.1016/j.jocn.2014.08.006 25439745
2014
2013
Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation. https://doi.org/10.1172/JCI66387 23585478
2012
2011
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2009
2007
The role of LANP and ataxin 1 in E4F-mediated transcriptional repression. https://doi.org/10.1038/sj.embor.7400983 17557114 ISSN: 1469-221XHuntington's disease presenting as postsurgical psychosis. https://doi.org/10.1002/mds.21522 17443707 ISSN: 0885-3185In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome. https://doi.org/10.1007/s10048-006-0067-8 17096168 ISSN: 1364-6745
2004
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2001
1996
Alterations in neural intermediate filament organization: functional implications and the induction of pathological changes related to motor neuron disease. https://doi.org/10.1242/jcs.109.9.2319 8886982 ISSN: 0021-9533The function of intermediate filaments in cell shape and cytoskeletal integrity. https://doi.org/10.1083/jcb.134.4.971 8769421 ISSN: 0021-9525The relative roles of specific N- and C-terminal phosphorylation sites in the disassembly of intermediate filament in mitotic BHK-21 cells. https://doi.org/10.1242/jcs.109.4.817 8718673 ISSN: 0021-9533Intermediate filament dynamics. https://doi.org/10.1016/0955-0674(92)90065-k 1558758 ISSN: 0955-0674