Autophagy pathway upregulation in a human iPSC-derived neuronal model of Cohen syndrome with VPS13B missense mutations

[1]  N. Mizushima,et al.  Lysosome biology in autophagy , 2020, Cell Discovery.

[2]  B. Kaang,et al.  Spatial Learning and Motor Deficits in Vacuolar Protein Sorting-associated Protein 13b (Vps13b) Mutant Mouse , 2019, Experimental neurobiology.

[3]  R. Ketteler,et al.  Redundancy of human ATG4 protease isoforms in autophagy and LC3/GABARAP processing revealed in cells , 2019, Autophagy.

[4]  G. Kroemer,et al.  Biological Functions of Autophagy Genes: A Disease Perspective , 2019, Cell.

[5]  J. Kamińska,et al.  Białka z rodziny Vps13 – od funkcji molekularnej do patogenezy chorób neurodegeneracyjnych , 2018, Postępy Biochemii.

[6]  S. Braddock,et al.  Cohen Syndrome: Review of the Literature , 2018, Cureus.

[7]  P. De Camilli,et al.  VPS13A and VPS13C are lipid transport proteins differentially localized at ER contact sites , 2018, The Journal of cell biology.

[8]  V. Haucke,et al.  Presynaptic endocytic factors in autophagy and neurodegeneration , 2018, Current Opinion in Neurobiology.

[9]  Damian Kolakowski,et al.  [Proteins from Vps13 family: from molecular function to pathogenesis of neurodegenerative disorders]. , 2018, Postepy biochemii.

[10]  B. Kaang,et al.  Development of LC3/GABARAP sensors containing a LIR and a hydrophobic domain to monitor autophagy , 2017, The EMBO journal.

[11]  D. Horn,et al.  Cohen Syndrome-associated Protein, COH1, Is a Novel, Giant Golgi Matrix Protein Required for Golgi Integrity* , 2011, The Journal of Biological Chemistry.

[12]  A. Monaco,et al.  Analysis of the human VPS13 gene family. , 2004, Genomics.

[13]  Hilde van der Togt,et al.  Publisher's Note , 2003, J. Netw. Comput. Appl..