18th ESGLD Workshop - September 3-6, 2011 Långvik, Finland

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ESGLD Finland 2011 will be held in Långvik, Kirkkonummi, Finland. Långvik Congress Wellness Hotel is located in the naturally beautiful environment of Kirkkonummi, at half-an-hour drive from Helsinki-Vantaa airport and from Helsinki city center. Långvik Congress Wellness Hotel offers an excellent environment for our meeting, with a combination of the facilities of a modern congress hotel and the natural beauty of the surrounding forest and the sea, by which the hotel is located. The hotel also has a Wellness-Spa and an organic restaurant where you can pamper yourself. Pictures of the hotel can be seen at. http://www.langvik.fi/en/contact/photos/

Welcome!

Local organising committee:

Anu Jalanko, Jaana Tyynelä, Aija Kyttälä, Pirkko Heikinheimo

Secretary: Tuija.Koski@thl.fi

Register for this event online Travel and visitor information Abstract Submission Guidelines

ABSTRACT DEADLINE JUNE 15TH 2011

REGISTRATION WILL OPEN IN APRIL 2011

ESGLD Workshop, Finland 3-6.9.2011     -    PRELIMINARY Programme

Download as PDF file

Saturday, September 3, 2011

4.00 pm

Registration

6.00

Get together

8.00

Opening / Welcome address

8.15

Opening lecture: Mart Saarma

New avenues in the treatment of neurodegenerative diseases

Sunday, September 4,  2011

08.50 – 12.20 pm

Scientific Session I:  Cell biology of lysosomes

Chairperson:                 Volkmar Gieselmann

08.50-09.10 am

Katrin Marschner

A key enzyme in the biogenesis of lysosomes is a protease that regulates cholesterol metabolism

09.10-09.30

Eeva-Liisa Eskelinen

LAMP-1 and LAMP-2 in endosomal cholesterol transport

09.30-09.50

Stephan Storch

Lysosomal targeting and proteolytic cleavage of the lysosomal storage disease-related membrane protein CLN7

09.50-10.10

Corinne Sagne

LMBD1, the protein mutated in cobalamin storage disorder (cbIF), is a highly glycosylated bona fide lysosomal membrane protein

10.30-10.40

Coffee break

10.40-11.00

Sandra Pohl

GlcNAc-1-phosphotransferase: Role of the g-subunit for the M6P-dependent transport of lysosomal enzymes

11.00-11.20

Georgia Makrypidi

Isoform-dependent dephosphorylaiton of lysosomal proteins by acidic phosphatases 2 and 5

11.20-11.40

Isabell Zech

Expression and intracellular transport of cerebroside sulfotransferase

11.40-12.00

Carmine Settembre

Genetic enhancement of autophagy as therapeutic treatment for the lysosomal storage disorders

12.00-12.20 pm

Alessandro Fraldi

Transcriptional activation of lysosomal exocytosis promotes cellular clearance

12.20-2.00

Lunch

2.00-4.50

Scientific Session II: Pathophysiology of lysosomal storage diseases

Chairperson:                 Jonathan Cooper

2.00-2.20                      

Elise Roy

GM130 dysfunction in Mucopolysaccharidosis IIIB affects lysosomogenesis

2.20-2.40                      

Francesca Cecere

MAPK dysregulation in the brain pathology of Mucopolysaccharidosis IIIB mice

2.40-3.00                      

Alexey Pshezhetsky

Protein misfolding in mucopolysaccharidosis III type C: molecular pathophysiology and therapeutic perspectives

3.00-3.20                      

Brian W. Bigger / Alex Langford

Evaluation of the behaviour of the Mucopolysaccharidosis type III A and B mouse models

3.20-3.40                      

 

Björn Kowalewski

Murine arylsulfatase G deficiency results in a lysosomal storage disorder

3.40-4.10

Coffee break

4.10-4.30

Katrin Kollmann

Skeletal abnormalities in the Gnptabc.3082insC mouse model of mucolipidosis II – pathomechanisms and therapeutic strategies

4.30-4.50

Emanuele Persichetti

di-N-acetylchitobiase-deficient mice accumulate Man2GlcNAc2 and Man3GlcNAc2

04.50-6.00

Attended Poster Session

6.00-6.30

ESGLD business meeting (for members only)

6.00–8.00

Sauna

8.00

Dinner

Monday, September 5, 2011

8.30-10.00 am

Scientific Session III: Pathophysiology of lysosomal storage diseases

Chairperson                  Thomas Braulke

08.30-09.00

Elina Ikonen

Lysosomal lipid imbalance in Niemann-Pick type C disease

09.00-09.20

Niklas Mattsson

Amyloid metabolism in Niemann-Pick type C disease: findings in cell and animal models

09.20-09.40

Maciej Lalowski

Cathepsin D deficiency: system level modeling of the human disease

09.40-10.00

Coffee break

10.00-10.20

Kristiina Uusi-Rauva

Juvenile neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endocytic compartments

10.20–10.40

Andrea Dardis

Characterization of the molecular mechanisms involved in the defective splicing of GAA mRNA carrying the common c.-32-13T>G mutation

10.40-11.00

Paulo Gaspar

Cell-type specific routing of GBA to lysosomes in LIMP-2 deficiency

11.00–12.30 am

Scientific Session IV: Clinical aspects of lysosomal storage diseases

Chairperson                  Carla Hollak

11.00-11.20

Catherine Caillaud

Ceroid lipofuscinosis in France: from CLN1 to CLN10

11.20-11.40

S.M. Rombach

The clinical course of treated and untreated patients with Fabry disease

11.40-12.00

Ben PoorthuisSensitive and robust method for the quantitation of globotriaosylsphingosine in human plasma with LC/MS/MS and isotope labelled internal standard

12.00-12.20 pm

Derek Burke

GBA 1 and 2, factors to consider in Parkinson's disease ?

12.20–2.00

Lunch

2.00–6.00

Social programme

6.00-7.00

Attended Poster Session

7.00-8.00

Sauna

8.00

Gala Dinner

Tuesday, September 6, 2011

09.00-12.40 am

Scientific Session V: Therapy of lysosomal storage diseases

Chairperson                  Paola Di Natale

09.00-09.20 am

Seng H. Cheng

CNS expression of glucocerebrosidase corrects a-synuclein pathology and memory deficits in a mouse model of Gaucher-related synucleinopathy

09.20-09.40

Nicolina Sorrentino

A novel systemic AAV-mediated gene therapy to cross the blood brain barrier and rescue the brain pathology in a lysosomal storage disorder

09.40-10.00

Margherita Neri / Alessandra Ricca

Neural stem cell gene therapy ameliorates pathology and function in a mouse model of Globoid Cell Leukodystrophy

10.00-10.20

Jonathan Cooper

Moving towards therapy for infantile neuronal ceroid lipofuscinosis

10.20-10.40

Coffee break

10.40-11.00

Ulrich Matzner

Therapeutic efficacy of enzyme replacement therapy in an aggravated mouse model of MLD declines with age

11.00-11.20

Annika Böckenhoff

Enzyme replacement therapy of metachromatic leukodystrophy: ASA fusion proteins for improved delivery of enzyme activity

11.20-11.40

G.E. Lindthorst

Antibody status causes a sustained lack of urinary Bg3 clearance and reduced IysoGb3 reduction despite long term ERT for fabry disease in male patients

11.40-12.00

MJ Ferraz

Inhibition of glucosylceramide synthase leads to storage reduction in Fabry mice

12.00-12.20 pm 

Eduard Paschke

Fluorous iminoalditols are effective pharmacological chaperones in fibroblasts from patients with juvenile or adult GM1-Gangliosidosis

12.20-12.40

Heidi Repo

Systematic study on chaperone lead compounds for acid a-glucosidase

12.40-1.00

Young Scientist's award

1.00-2.00 

Lunch and departure