Results overview: Found 3 records in 0.02 seconds.
Articles, 3 records found
Articles 3 records found  
1.
10 p, 2.5 MB Myo5b knockout mice as a model of microvillus inclusion disease / Cartón-Garcia, Fernando (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Overeem, Arend W. (University Medical Center Groningen) ; Nieto Raya, Rocio (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Bazzocco, Sarah (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Dopeso, Higinio (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Macaya, Irati (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Bilic Zimmermann, Josipa (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Landolfi, Stefania (Hospital Universitari Vall d'Hebron) ; Hernandez-Losa, Javier (Hospital Universitari Vall d'Hebron) ; Schwartz, Simo (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Ramon y Cajal, Santiago (Hospital Universitari Vall d'Hebron) ; van Ijzendoorn, Sven C. D. (University Medical Center Groningen) ; Arango, Diego (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Universitat Autònoma de Barcelona
Inherited MYO5B mutations have recently been associated with microvillus inclusion disease (MVID), an autosomal recessive syndrome characterized by intractable, life-threatening, watery diarrhea appearing shortly after birth. [...]
2015 - 10.1038/srep12312
Scientific reports, Vol. 5 (07 2015)  
2.
17 p, 2.5 MB A Molecular Mechanism Underlying Genotype-Specific Intrahepatic Cholestasis Resulting From MYO5B Mutations / Overeem, Arend W. (University Medical Center Groningen) ; Li, Qinghong (University Medical Center Groningen) ; Qiu, Yi-Ling (Children's Hospital of Fudan University, Shanghai) ; Cartón-Garcia, Fernando (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Leng, Changsen (University Medical Center Groningen) ; Klappe, Karin (University Medical Center Groningen) ; Dronkers, Just (University Medical Center Groningen) ; Hsiao, Nai-Hua (University Medical Center Groningen) ; Wang, Jian-She (Children's Hospital of Fudan University, Shanghai) ; Arango, Diego (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; van Ijzendoorn, Sven C. D. (University Medical Center Groningen) ; Universitat Autònoma de Barcelona
Progressive familial intrahepatic cholestasis (PFIC) 6 has been associated with missense but not biallelic nonsense or frameshift mutations in MYO5B, encoding the motor protein myosin Vb (myoVb). This genotype-phenotype correlation and the mechanism through which MYO5B mutations give rise to PFIC are not understood. [...]
2020 - 10.1002/hep.31002
Hepatology, Vol. 72 (april 2020) , p. 213-229  
3.
29 p, 6.1 MB Loss of MYO5B expression deregulates late endosome size which hinders mitotic spindle orientation / Leng, Changsen (Department of Biomedical Sciences of Cells and Systems, section Molecular Cell Biology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands) ; Overeem, Arend W. (Department of Biomedical Sciences of Cells and Systems, section Molecular Cell Biology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands) ; Cartón-Garcia, Fernando (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Li, Qinghong (Department of Biomedical Sciences of Cells and Systems, section Molecular Cell Biology, University of Groningen, University Medical Center Groningen) ; Klappe, Karin (Department of Biomedical Sciences of Cells and Systems, section Molecular Cell Biology, University of Groningen, University Medical Center Groningen) ; Kuipers, Jeroen (Department of Biomedical Sciences of Cells and Systems, section Molecular Cell Biology, University of Groningen, University Medical Center Groningen) ; Cui, Yingying (Department of Gastroenterology and Hepatology, University of Groningen, University Medical Center Groningen) ; Zuhorn, Inge S. (Department of Biomedical Engineering, University of Groningen, University Medical Center Groningen) ; Arango, Diego (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; van IJzendoorn, Sven C. D. (Department of Biomedical Sciences of Cells and Systems, section Molecular Cell Biology, University of Groningen, University Medical Center Groningen) ; Universitat Autònoma de Barcelona
Recycling endosomes regulate plasma membrane recycling. Recently, recycling endosome-associated proteins have been implicated in the positioning and orientation of the mitotic spindle and cytokinesis. [...]
2019 - 10.1371/journal.pbio.3000531
PLoS biology, Vol. 17 (november 2019)  

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