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Symposium on Mucolipin
Function in Disease

Draft Agenda

  Monday, June 2, 2008  
  8:00 – 9:00 a.m. Registration and Breakfast
  9:00 – 9:15 a.m.

Welcome and Opening Remarks
Robert Balaban, Ph.D.
Scientific Director, Division of Intramural Research, National Heart, Lung, and Blood Institute (NHLBI)

Story C. Landis, Ph.D. (invited)
Director, National Institute of Neurological Disorders and Stroke (NINDS)

Randy Yudenfriend
President, MLIV Foundation

   9:15 – 10:45 a.m.

Session I: Clinical and Molecular Basis of MLIV
Chair: Susan Slaugenhaupt, Ph.D., Massachusetts General Hospital/Harvard Medical School

The Clinical Characteristics and Natural History of Mucolipidosis Type IV
Raphael Schiffmann, M.D., Baylor Research Institute

Mucolipin Proteins and Lysosomal Function: Implications for Mucolipidosis Type IV
Gideon Bach, Ph.D., Hadassah Hebrew University Hospital, Israel                                    

Mucolipin Biology and Disease Suppression
Hanna Fares, Ph.D., University of Arizona

  10:45 – 11:00 a.m. Break
  11:00 a.m. – Noon

Session I: (continued)

A Murine Model for Mucolipidosis Type IV
Susan Slaugenhaupt, Ph.D., Massachusetts General Hospital/Harvard Medical School

New Potential for a Therapeutic Approach Arising From a Drosophila Model of MLIV
Craig Montell, Ph.D., Johns Hopkins University School of Medicine

  Noon – 1:30 p.m. Lunch and Poster Set-Up
  1:30 – 3:00 p.m.

Session II: Lysosomal Function and Disease
Chair: Steven U. Walkley, Ph.D., D.V.M., Albert Einstein College of Medicine

Fusion, Confusion, or Illusion: A Possible Transport Intermediate Between Late
Endosomes and Lysosomes in Yeast

Thomas Vida, Ph.D., University of Texas Health Science Center

CLC-7 Is the Lysosomal Chloride Transporter Essential for Effective Acidification
Joseph Mindell, M.D., Ph.D., NINDS

Glycoshpingolipid and Cholesterol Involvement in Neurons in MLIV and Related Lysosomal Diseases
Steven U. Walkley, Ph.D., D.V.M., Albert Einstein College of Medicine

  3:00 – 3:15 p.m. Break
  3:15 – 4:15 p.m.

Abnormal Lysosomal Calcium Homeostasis in Mucolipidosis Type IV Cells Can Be Partially Corrected
Following Depletion of Glycosphingolipids With NB-DNJ
Emyr Lloyd-Evans, Ph.D., University of Oxford, United Kingdom

The Lysosomal Cation Channel TRP-ML1 Coordinates a Novel Form of Intercellular Communication
Involving the Cell-to-Cell Transfer of Organelles Through Nanotubular Plasma Membrane Bridges

Janice M. LaPlante, Ph.D., Brigham and Women’s Hospital and Harvard Medical School

The Varitint-Waddler (Va) Deafness Mutation in TRPML3 Generates Constitutive, Inward Rectifying
Current and Causes Cellular Degeneration

Jaime García-Añoveros, Ph.D., Northwestern University Feinberg School of Medicine

Investigation of Subunit c of the Mitochondrial ATPase as a Marker for Abnormal Autophagy
Susan Cotman, Ph.D., Massachusetts General Hospital

  4:15 – 6:00 p.m. Poster Session
  7:30 – 9:30 p.m. Symposium Dinner – Location TBD
     
  Tuesday, June 3, 2008

 

  8:00 – 9:00 a.m. Registration and Breakfast
  9:00 - 10:30 a.m.

Session III: Localization and Cellular Function of MCOLN1
Chair: Rosa Puertollano, Ph.D., NHLBI

Autophagy: Physiological Functions and Relevance to Disease
Ana Maria Cuervo, M.D., Ph.D., Albert Einstein College of Medicine

Role of Mucolipins in the Regulation of Intracellular Trafficking
Rosa Puertollano, Ph.D., NHLBI

Membrane Traffic and Turnover in Mucolipin-1 Deficient Cells
Ora A. Weisz, Ph.D., University of Pittsburgh School of Medicine

  10:30 - 10:45 a.m. Break
  10:45 a.m. – 12:15 p.m.

Session III:(continued)

TRPML1 and TRPML3 Block by Transition Metal
Kirill Kiselyov, Ph.D., University of Pittsburgh

Effect of Ca2+ and pH on the Cation Channel Activity of Mucolipin-1 (TRP-ML1)
and Polycystin-2 (TRP-P2)

Horacio F. Cantiello, D.V.M., Ph.D., Massachusetts General Hospital/Harvard Medical School
and Laboratorio de Canales Iónicos, ININCA - UBA – CONICET, Argentina

Electrophysiological Characterization of the Type IV Mucolipidosis-Associated Protein TRPML1
Haoxing Xu, Ph.D., University of Michigan

   12:15 – 1:15 p.m. Lunch
   1:15 – 2:45 p.m.

Session IV: The Mucolipin Family
Chair: Kirill Kiselyov, Ph.D., University of Pittsburgh

Properties and Functions of TRPML3
Shmuel Muallem, Ph.D., University of Texas Southwestern Medical Center

Activating Mutation in a Mucolipin Transient Receptor Potential Channel Leads to Melanocyte
Loss in Varitint-Waddler Mice
Markus Delling, Ph.D., Harvard Medical School

Funding Opportunities and Research Resources at NINDS
Danilo Tagle, Ph.D., NINDS

  2:45 – 3:00 p.m. Final Remarks and Adjournment
Last updated: May 5, 2008
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