Upcoming 12th VPS13 Forum - March 27, 2023
Topic: Muscle and Nerve
by Kevin Peikert

It should be an interesting forum on March 27th with presenters from Germany, Switzerland, and Italy.  The planned agenda is as follows:


The wide neuromuscular spectrum of VPS13A disease demonstrated by a case series
Anne Buchberger
Department of Neurology, Klinikum rechts der Isar, Technical University Munich, Munich, Germany
Neuromuscular involvement in McLeod syndrome
Hans Jung
Department of Neurology, University Hospital and University Zurich, Zurich, Switzerland
Muscle findings in Neuroacanthocytosis: hypotheses and observations
Marina Melone1 & Pietro Chiurazzi2

1Center for Rare Neurological Diseases, HCP representative for MetabERN and EURO-NMD networks  

Department of Advanced Medical and Surgical Sciences,  InterUniversity Center for Research in Neurosciences,  University of Campania "Luigi Vanvitelli", Naples Italy

2Sezione di Medicina Genomica - Genomic Medicine Dipartimento di Scienze della Vita e Sanità Pubblica Università Cattolica del Sacro Cuore Roma, Italy
Integrated analysis of skeletal muscle from Vps13a-/- mice revealed neuro-/myopathic (?) metabolic signature and impaired autophagy
Lucia De Franceschi
Department of Medicine, University of Verona & AOUI Verona, Policlinico GB Rossi, Verona, Italy

We hope to see many of you at the event, which we hope will result in an extensive exchange of observations and ideas. Apart from the presentations, the discussion is the main focus of the forum




Monday, March 27th, 2023


from 2:00-4:00 pm CEST/UTC+2 (Central European Summer Time)

from 8:00-10:00 am EDT/UTC-4 (Eastern Daylight Time)

from 10:00-12:00 pm JST/UTC+9 (Japan Standard Time)



Z O O M   L I N K


Meeting-ID: 618 9330 0033

Code: 103903



The 10th VPS13 Forum was held on November 28th and attendees enjoyed a variety of topics:


- Dysphagia in rare movement disorders such as Huntington's disease (Cornelius Weaver, University of Aachen and Johanniter-Krankenhaus Stendal, Germany);


- Amantadine treatment for hyperkinetic movements in chorea-acanthocytosis (Luis E. Zayas, University of Tennessee, USA); and


- "Why we should get rid of the term neuroacanthocytosis - or shouldn't we?" (Adrian Danek of the Ludwig-Maximilians-Universität München, Germany and Ruth Walker of the Mount Sinai School of Medicine, New York City, NY, USA)


The 2-hour session concluded with a medical Question and Answer session for patients, carers, and family members. Panelists included: Adrian Danek, Andreas Hermann, Ginger Irvine, Hans Jung,  Gabriel Miltenberger-Miltenyi, Alzbeta Mühlbäck, Kevin Peikert, Ruth H Walker, Cornelius Werner, and Joy Willard-Williford.



Finally, the 11th VPS13 Forum, held on January 30th, featured speakers on "Actors at membrane contact sites: VPS13 and others." Topics covered:

- Modelling VPS13 interactions with membranes: Ideas and speculations on lipid transfer function (Laura Swan of the University of Liverpool);

- Autophagy dysfunction in Beta-Propeller Protein-Associated Neurodegeneration (BPAN): Insights from the Dictyostelium model (Ricardo Escalante of the Instituto de Investigaciones Biomédicas Alberto Sols, Madrid, Spain); and

- Interactions between yeast Vps13 and its adaptor proteins (Elizabeth Conibear and Kevin Jeffers of the University of British Columbia in Vancouver, Canada)


The next meeting of the VPS13 Forum is scheduled for May 22nd, 2023 (topic: bridge-like lipid transfer proteins).





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