Lab News

July 2017 Dr. David Pearce led a collaborative research article with Drs. Alexei Savinov, Attila Kovacs, and Jill Weimer published in Biochimica et Biphysica Acta investigating systemic effects such as infertility and immune dysfunction due to ataxia telangiectasia using a novel porcine model. "Genetic Ataxia Telangiectasia porcine model phenocopies the multisystemic features of the human disease" https://www.ncbi.nlm.nih.gov/pubmed/28746835

June 2017 Dr. David Pearce co-authored a clinical research article published in JAMA Opthalmology detailing clinical, electrophysiologic and genetic features across patients with CLN3 Batten disease-associated retinal degeneration. "Detailed clinical phenotype and molecular genetic findings in CLN3-associated isolated retinal degeneration."

May 2017 Drs. David Pearce and Jill Weimer published a research article in PLoS One characterizing a new mouse model of Cln2-infantile Batten disease which can be used for preclinical screening of nonsense suppression drugs. "A tailored mouse model of CLN2 disease: A nonsense mutant for testing personalized therapies."

April 2017 Drs. David Pearce and Attila Kovács published a research article in the Journal of Cellular Biochemistry studying novel regulatory function of CLN3 which is mutated in the juvenile-onset form of neuronal ceroid lipofuscinosis, a childhood fatal neurodegenerative disorder. "Role of the lysosomal membrane protein, CLN3, in the regulation of cathepsin D activity."

February 2017,David Pearce, PhD, and Attila Kovacs, PhD, authored a research article titled "Decreased sensitivity of palmitoyl protein thioresterase 1-deficient neurons to chemical anoxia" in the journal Metabolic Brain Disease.  They found that genetic deficiency in CLN1 is associated with impaired neuron mitochondrial function and may contribute to the pathogenesis of infantile neuronal ceroid lipofuscinosis. 

November 2016, Dr. Pearce's laboratory published a paper entitled "Decreased sensitivity of palmitoyl protein thioesterast 1-deficient neurons to chemical anoxia" in the Journal Metabolic Brain Disease. https://www.ncbi.nlm.nih.gov/pubmed/?term=27722792

September 2016, Dr. Attila Kovacs of the Pearce laboratory presented a poster entitled "Altered microbiome changes neurological function in mice: Potential implications for studying neurodegenerative disease" during the Exploring Human Host-Microbiome Interactions in Health and Disease conference in Hinxton, UK.

August 2016, Dr. Pearce presented "Genetics 101" to Batten's families at the 2016 Batten Disease Support and Research Association Family Conference in St. Louis, MO.

June 2016, Drs. Peter Vitiello and David Pearce as well as CHRC adjunct faculty member Dr. Seasson Vitiello recently published a study entitled “Disruption of a cystine transporter downregulates expression of genes involved in sulfur regulation and cellular respiration” in the journal Biology Open.

December 2015, The Pearce team, including Dr. David Pearce, Dr. Attila Kovacs, and Jake Miller co-authored an article in the Journal of Cellular and Molecular Medicine entitled: “Tissue-specific variation in nonsense mutant transcript level and drug-induced read-through efficiency in the Cln1R151X mouse model of INCL.”

December 2015, The Pearce team, including Drs. David Pearce and Chun Chan as well as MD/PhD candidates Sam Hersrud and Ryan Geraets recently published an article entitled “Plasma Biomarkers for Neuronal Ceroid Lipofuscinosis” in the journal FEBS.

October 2015, Drs. Attila Kovacs and David Pearce coauthored a manuscript entitled “Abnormally increased surface expression of AMPA receptors in the cerebellum, cortex and striatum of Cln3-/-” published in Neuroscience Letters.