Tuesday July 17th, 2007

NCL Congress

9AM- 12:30PM

Session VI: CLN3 – Chair: Anu Jalanko

Plenary Lecture

William Gahl, National Institutes of Health, USA

Cystinosis

NCL presentations chosen from submitted abstracts.

Sergio Padilla-Lopez, University of Rochester Medical Center, USA - Evidences for Btn1p as an uncoupler of the vacuolar ATPase complex in Saccharomyces cerevisiae

Rebecca Haines, University College London, United Kingdom - Identifying functional domains of btn1, the Schizosaccharomyces pombe orthologue to the juvenile NCL gene CLN3

Stephan Storch, Universitätskrankenhaus Eppendorf, Germany - C-terminal prenylation of the CLN3 membrane glycoprotein is required for efficient endosomal sorting to lysosomes

Break

Mika Ruonala, European Neuroscience Institute, Germany - Getting a grip of CLN3

Seasson Phillips-Vitiello, University of Rochester Medical Center, USA - Identification of an evolutionarily conserved protein interaction with CLN3

Claudia Kitzmuller, University College London, United Kingdom - CLN3 is involved in cytoskeletal organisation

Kristiina Yliannala, National Public Health Institute, Finland - Novel interactions of JNCL protein CLN3: Implications for function in plasma membrane association of Na+, K+ ATPase

Richard Tuxworth, Kings College of London, United Kingdom - Drosophila as a model system for understanding Cln3 cell biology

Lunch

Tuesday July 17th, 2007

NCL Congress

1:00PM- 5:30PM

Session VII: Variant NCLs, CTSD, CLN5, CLN6, CLN7, CLN8, and CLN9

Chair: Mark Sands

Plenary Lecture

Jaana Tyynela, University of Helsinki, Finland

Cathepsin D deficiencies

Invited Speakers

Thomas Braulke, University of Hamburg, Germany

Analysis of pathomechanisms in NCL mouse models

David Palmer, Lincoln University, New Zealand

Studies Towards Anti-inflammatory and Gene Therapy in Ovine Batten Disease

Peter Houweling, University of Sydney, Australia

Four large animal models of the Neuronal Ceroid Lipofuscinoses CLN5 & CLN6

Break

NCL presentations chosen from submitted abstracts.

Robert Steinfeld, University of Göttingen, Germany - Partial cathepsin D deficiency is associated with juvenile and adult neuronal ceroid lipofuscinosis

Romina Kohan, Center for the Study of Inborn Errors of Metabolism (CEMECO) Children’s Hospital, National University of Cordoba, Argentina - First CLN5 mutations in Argentina

Carlos Bessa, Instituto Genetica Medica, Unidade de Enzimologia, Portugal - The CLN5 protein defective in the Finnish vLINCL is a junctional plasma membrane protein

Aija Kyttala, National Public Health Institute, Finland - CLN5- A link for common molecular pathways underlying neuronal ceroid lipofuscinosis?

Carina von Schantz, National Public Health Institute, Finland - Progressive neuron loss in the thalamocortical system of Cln5 deficient mice: evidence for distinct effects in Finnish variant late infantile NCL

Arne Quitsch, University of Hamburg, Germany - Functional analysis of the down regulation of GABAAa2 receptor subunits in the brain of nclf-mice

Jared Benedict, University of Rochester Medical Center, USA - The ER resident protein CLN6 interacts with a protein involved in axon guidance

Eija Siintola, Folkhälsan Institute of Genetics, Finland - The novel neuronal ceroid lipofuscinosis gene CLN7 encodes a putative lysosomal transporter protein

Rose-Mary Boustany, Duke University Medical Center, USA - In Search of the CLN9 gene and Protein

5:15PM – 6:00PM

Conference Wrap Up/Discussion

Banquet