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Her research focus on understanding the molecular basis of human diseases, with an emphasis on diseases of the endo-lysosomal system. Diseases specifically addressed in my work are: Lysosomal storage disorders (Pompe disease; Mucolipidosis II/I-Cell disease) – Alzheimer disease – Hermansky Pudlak Syndrome (pigmentation bleeding disorder) - Cancer – virus and bacterial infections – ARC syndrome –Microvillar inclusion Disease. In addition, her work has elucidated fundamental concepts of endosome and lysosome biogenesis, of which the most recent finding is a novel pathway for the delivery of lysosomal membrane proteins to the lysosomes.
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论文共 213 篇作者统计合作学者相似作者
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MOLECULAR BIOLOGY OF THE CELLno. 3 (2024): ar40-ar40
Tiago Carvalheiro,Wioleta Marut,M. Inês Pascoal Ramos,Samuel García, Devan Fleury,Alsya J. Affandi, Aniek S. Meijers,Barbara Giovannone, Ralph G. Tieland,Eline Elshof,Andrea Ottria,Marta Cossu,
Journal of Autoimmunity (2024): 103219-103219
Felix van der Krift,Dick W. Zijlmans,Rhythm Shukla,Ali Javed,Panagiotis I. Koukos, Laura L.E. Schwarz,Elpetra P.M. Timmermans-Sprang,Peter E.M. Maas, Digvijay Gahtory, Maurits van den Nieuwboer,Jan A. Mol,Ger J. Strous,
biorxiv(2023)
Methods in cell biology (2023): 301-326
biorxiv(2023)
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Shroddha Bose,Cecilia de Heus, Mary E. Kennedy, Fan Wang,Thomas J. Jentsch,Judith Klumperman,Tobias Stauber
Biomoleculesno. 12 (2023)
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