M
Marc C. Patterson
Researcher at Mayo Clinic
Publications - 163
Citations - 8603
Marc C. Patterson is an academic researcher from Mayo Clinic. The author has contributed to research in topics: Miglustat & Exome sequencing. The author has an hindex of 44, co-authored 156 publications receiving 7341 citations.
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Journal ArticleDOI
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.
Eugene D. Carstea,Jill A. Morris,Katherine G. Coleman,Stacie K. Loftus,Dana Zhang,Christiano Cummings,Jessie Z. Gu,Melissa A. Rosenfeld,William J. Pavan,David B. Krizman,James W. Nagle,M H Polymeropoulos,Stephen L. Sturley,Yiannis A. Ioannou,Maureen E. Higgins,Marcella E. Comly,Adele Cooney,Anthony Brown,Christine R. Kaneski,E. Joan Blanchette-Mackie,Nancy K. Dwyer,Edward B. Neufeld,Ta-Yuan Chang,Laura Liscum,Jerome F. Strauss,Kousaku Ohno,Marsha Zeigler,Rivka Carmi,J Sokol,David Markie,Raymond R. O'Neill,O. P. van Diggelen,Milan Elleder,Marc C. Patterson,Roscoe O. Brady,Marie T. Vanier,Peter G. Pentchev,Danilo A. Tagle +37 more
TL;DR: Transfection of NP-C fibroblasts with wild-type NPC1 cDNA resulted in correction of their excessive lysosomal storage of LDL cholesterol, thereby defining the critical role of NPC1 in regulation of intracellular cholesterol trafficking.
Journal ArticleDOI
Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.
Marc C. Patterson,Christian J. Hendriksz,Mark Walterfang,Frédéric Sedel,Marie T. Vanier,Frits A. Wijburg +5 more
TL;DR: Points of consensus among experts in the diagnosis and treatment of NP-C are reported based on a follow-up meeting in Paris, France in September 2011, providing further information on detection/diagnostic methods, potential new methods of monitoring disease progression, and therapy.
Journal ArticleDOI
The Niemann-Pick C1 Protein Resides in a Vesicular Compartment Linked to Retrograde Transport of Multiple Lysosomal Cargo
Edward B. Neufeld,Meryl E. Wastney,Shutish C. Patel,Sundar Suresh,Adele Cooney,Nancy K. Dwyer,Calvin F. Roff,Kousaku Ohno,Jill A. Morris,Eugene D. Carstea,John P. Incardona,Jerome F. Strauss,Marie T. Vanier,Marc C. Patterson,Roscoe O. Brady,Peter G. Pentchev,E. Joan Blanchette-Mackie +16 more
TL;DR: It is concluded that a distinctive organelle containing NPC1 mediates retrograde lysosomal transport of endocytosed cargo that is not restricted to sterol.
Journal ArticleDOI
Clinical, Radiologic, and Prognostic Features of Myelitis Associated With Myelin Oligodendrocyte Glycoprotein Autoantibody
Divyanshu Dubey,Sean J. Pittock,Karl N. Krecke,Padraig P. Morris,Elia Sechi,Nicholas L. Zalewski,Brian G. Weinshenker,Eslam Shosha,Claudia F. Lucchinetti,James P. Fryer,A. Sebastian Lopez-Chiriboga,John C. Chen,Jiraporn Jitprapaikulsan,Andrew McKeon,Avi Gadoth,B. Mark Keegan,Jan Mendelt Tillema,Elie Naddaf,Marc C. Patterson,Kevin Messacar,Kenneth L. Tyler,Eoin P. Flanagan +21 more
TL;DR: Myelitis is an early manifestation of MOG-IgG–related disease and may have a clinical phenotype of acute flaccid myelitis and be identified a variety of clinical and magnetic resonance imaging features that may help clinicians identify those at risk in whom Mog-IGG should be tested.
Journal ArticleDOI
Recommendations on the diagnosis and management of Niemann-Pick disease type C
James E. Wraith,Matthias R. Baumgartner,Bruno Bembi,Athanasios Covanis,Thierry Levade,Eugen Mengel,Mercè Pineda,Frédéric Sedel,Meral Topçu,Marie T. Vanier,Håkan Widner,Frits A. Wijburg,Marc C. Patterson +12 more
TL;DR: This commentary reviews current literature on key aspects of the clinical management of NP-C in children, juveniles and adults, and provides recommendations based on consensus between the experts at the meeting.