Anna Duarri
Postdoctoral Researcher
Genetics
Centro de Medicina Regenerativa de Barcelona
Spain
Biography
Dr. Anna Duarri holds the MD in Biochemistry and the PhD in Biochemistry and Molecular Biology from the Autonomous University of Barcelona (2010). During her doctorate she studied the pathological mechanism of Megalencephalic leukoencephalopathy at IDIBELL / Department of Physiological Sciences II (UB) / CIBERER. She continued her postdoctoral training in the Department of Genetics at the University Medical Center Groningen (UMCG, The Netherlands, 2011-2014), studying the genetic and molecular basis of spinocerebellar ataxia type 19/22. She was then incorporated as a postdoctoral researcher at the Stem Cell Bank at the CMR[B] (2015).
Research Interest
Cell Biology, Neuroscience, Physiology
Publications
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Duarri A, Nibbeling EA, Fokkens MR, Meijer M, Boerrigter M, Verschuuren-Bemelmans CC, Kremer BP, van de Warrenburg BP, Dooijes D, Boddeke E, Sinke RJ, Verbeek DS. (2015) Functional analysis helps to define KCNC3 mutational spectrum in dutch ataxia cases. PLoS One 10(3):e0116599.
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Duarri A, Lin MC, Fokkens MR, Meijer M, Smeets CJ, Nibbeling EA, Boddeke E, Sinke RJ, Kampinga HH, Papazian DM, Verbeek DS. (2015) Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner. Cell Mol Life Sci 72(17):3387-99. Epub 2015 Apr 9.
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Duarri A, Nibbeling E, Fokkens MR, Meijer M, Boddeke E, Lagrange E, Stevanin G, Brice A, Durr A, Verbeek DS. (2015) Erratum to: The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together. Neurogenetics 16(3):243.
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Smeets CJ, Jezierska J, Watanabe H, Duarri A, Fokkens MR, Meijer M, Zhou Q, Yakovleva T, Boddeke E, den Dunnen W, van Deursen J, Bakalkin G, Kampinga HH, van de Sluis B, Verbeek DS. (2015) Elevated mutant dynorphin A causes Purkinje cell loss and motor dysfunction in spinocerebellar ataxia type 23. Brain 138(Pt 9):2537-52. Epub 2015 Jul 12.
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Smets K, Duarri A, Deconinck T, Ceulemans B, van de Warrenburg BP, Züchner S, Gonzalez MA, Schüle R, Synofzik M, Van der Aa N, De Jonghe P, Verbeek DS, Baets J. (2015) First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy. BMC Med Genet 16:51.
