Saturday, Sunday, Monday, Tuesday
Monday July 16th, 2007
NCL Congress
8:30AM- 12:30PM
Session IV: Juvenile-NCL
Chair: Sandra Hoffman
Plenary Lecture
Kirill Kiselyov, University of Pittsburgh, USA
Lysosomal deficiencies and cell death in mucolipidosis type IV.
NCL Plenary Lecture
David Pearce, University of Rochester Medical Center, USA
JNCL and CLN3
Invited Speakers
Colleen Stein, University of Iowa College of Medicine, USA
Osmoregulation of CLN3 in the Renal Medulla
NCL presentations chosen from submitted abstracts.
Steven Eliason, University of Iowa College of Medicine, USA - A Knock-In Reporter Model of Batten’s Disease
Break
Denia Ramirez-Montealegre, University of Rochester Medical Center, USA - Arginine Defects in JNCL: Implications for Nitric Oxide Production
Nuno Osorio, Universidade do Minho Campus de Gualtar, Portugal - Arginine related nitric oxide synthesis defect in btn1-?: possible implications for JNCL pathogenesis
Stephan Storch/ S. Pohl, Universitätskrankenhaus Eppendorf, Germany - Up-regulation of lysosomal acid phosphatase (ACP2) in CLN3-deficient cells and Cln3 -/- mouse brain
Jared Benedict, University of Rochester Medical Center, USA - Loss of a CLN3 protein interaction may lead to specific cerebellar phenotypes in the Cln3-/- mouse
Srinivas Narayan, Children’s Hospital of Philadelphia, USA - Palmitoyl-protein desaturase activity demonstrates intermediate activity in neuronal tissues from heterozygote cln3 knockout mice
Hannah Mitchinson, University College London, United Kingdom - Dysfunction of autophagic and endocytic pathways in Batten disease (CLN3)
Lunch
Monday July 16th, 2007
NCL Congress
1:30PM- 6:00PM
Session V: Common Themes and NCL Comparisons Chair: Glyn Dawson
Plenary Lecture
Steven Walkley, Albert Einstein College of Medicine, USA
Thinking “Outside the Organelle” to Understand Lysosomal Disease
NCL Plenary Lecture
Jonathan Cooper, Kings College, London, United Kingdom
Common themes in mouse models of NCL?
Invited Speakers
Susan Cotman, Harvard Medical School, USA
Cln3 and Cln6 disease mutations cause similar yet distinct phenotypes in mice and in cultured cells
Sara Mole, University College London, United Kingdom
Re-interpretation of the genotype-phenotype correlations in Batten disease are changing our perspective of the disease
Break
NCL presentations chosen from submitted abstracts
Rose-Mary Boustany, Duke University Medical Center, USA - NCL: A Common Pathway
Taina Autti, Helsinki University Hospital – Rontgen, Finland - T2 and T1 -weighted images, proton density images and FLAIR images show abnormal signal intensity in CLN1, CLN3 and CLN 5
Elena Rusyn, Duke University Medical Center, USA - Altered NCL lipid raft morphology and sphingolipids
Claire Russell, University College London, United Kingdom - Generation of zebrafish models of Neuronal Ceroid Lipofuscinosis
Elina Maaranen, National Public Health Institute, Helsinki, Finland - Comparison of gene expression patterns of Cln1, Cln3, Cln5 and Cln8 deficient mouse models
Poster Session III
Dinner on your own
Workshops
Batten Foundation Presentations – Organizer, Frank Stehr
Rare NCL Gene Consortium – Organizer, Sara Mole