An orally available, brain penetrant, small molecule lowers huntingtin levels by enhancing pseudoexon inclusion

Temporal Phenotypic Changes in Huntington’s Disease Models for Preclinical Studies

(2022) Sophie St-Cyr et al.   Journal of Huntingtons Disease

Striatal Projection Neurons Require Huntingtin for Synaptic Connectivity and Survival

(2020) Caley J. Burrus et al.   Cell Reports

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Spliceosomal disruption of the non-canonical BAF complex in cancer

(2019) Daichi Inoue et al.   NATURE

Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

(2018) Gemma L. Carvill et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Huntingtin suppression restores cognitive function in a mouse model of Huntington’s disease

(2018) Amber L. Southwell et al.   Science Translational Medicine

Therapies targeting DNA and RNA in Huntington's disease

(2017) Edward J Wild et al.   LANCET NEUROLOGY

Elimination of huntingtin in the adult mouse leads to progressive behavioral deficits, bilateral thalamic calcification, and altered brain iron homeostasis

(2017) Paula Dietrich et al.   PLoS Genetics

Motor deficits associated with Huntington's disease occur in the absence of striatal degeneration in BACHD transgenic mice

(2016) Susanna Mantovani et al.   HUMAN MOLECULAR GENETICS

The exon quantification pipeline (EQP): a comprehensive approach to the quantification of gene, exon and junction expression from RNA-seq data

(2016) Sven Schuierer et al.   NUCLEIC ACIDS RESEARCH

SMN2 splice modulators enhance U1–pre-mRNA association and rescue SMA mice

(2015) James Palacino et al.   Nature Chemical Biology

limma powers differential expression analyses for RNA-sequencing and microarray studies

(2015) Matthew E. Ritchie et al.   NUCLEIC ACIDS RESEARCH

Silencing Mutant Huntingtin by Adeno-Associated Virus-Mediated RNA Interference Ameliorates Disease Manifestations in the YAC128 Mouse Model of Huntington's Disease

(2014) Lisa M. Stanek et al.   HUMAN GENE THERAPY

Sustained Therapeutic Reversal of Huntington's Disease by Transient Repression of Huntingtin Synthesis

(2012) Holly B. Kordasiewicz et al.   NEURON

Energy deficit in Huntington disease: why it matters

(2011) Fanny Mochel et al.   JOURNAL OF CLINICAL INVESTIGATION

Spliceosome Structure and Function

(2010) C. L. Will et al.   Cold Spring Harbor Perspectives in Biology

Full-Length Human Mutant Huntingtin with a Stable Polyglutamine Repeat Can Elicit Progressive and Selective Neuropathogenesis in BACHD Mice

(2008) M. Gray et al.   JOURNAL OF NEUROSCIENCE

Artificial miRNAs mitigate shRNA-mediated toxicity in the brain: Implications for the therapeutic development of RNAi

(2008) J. L. McBride et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA