scholarly journals A Human Stem Cell Model of Fabry Disease Implicates LIMP-2 Accumulation in Cardiomyocyte Pathology

2019 ◽  
Vol 13 (2) ◽  
pp. 380-393 ◽  
Author(s):  
Matthew J. Birket ◽  
Sophie Raibaud ◽  
Miriam Lettieri ◽  
Antony D. Adamson ◽  
Valerie Letang ◽  
...  
Keyword(s):  
Stem Cell ◽  
Fabry Disease ◽  
Cell Model ◽  
Human Stem Cell ◽  
Stem Cell Model

scholarly journals FMR1 loss in a human stem cell model reveals early changes to intrinsic membrane excitability

2020 ◽  
Vol 468 (1-2) ◽  
pp. 93-100
Author(s):  
Sara G. Susco ◽  
Mario A. Arias-García ◽  
Violeta G. López-Huerta ◽  
Amanda Beccard ◽  
Anne M. Bara ◽  
...  
Keyword(s):  
Stem Cell ◽  
Cell Model ◽  
Human Stem Cell ◽  
Membrane Excitability ◽  
Stem Cell Model

scholarly journals FUS is lost from nuclei and gained in neurites of motor neurons in a human stem cell model of VCP-related ALS

Brain ◽  
2020 ◽  
Author(s):  
Jasmine Harley ◽  
Cathleen Hagemann ◽  
Andrea Serio ◽  
Rickie Patani
Keyword(s):  
Stem Cell ◽  
Motor Neurons ◽  
Cell Model ◽  
Human Stem Cell ◽  
Stem Cell Model

scholarly journals mTORC1 Inhibition Corrects Neurodevelopmental and Synaptic Alterations in a Human Stem Cell Model of Tuberous Sclerosis

Cell Reports ◽  
2016 ◽  
Vol 15 (1) ◽  
pp. 86-95 ◽  
Author(s):  
Veronica Costa ◽  
Stefan Aigner ◽  
Mirko Vukcevic ◽  
Evelyn Sauter ◽  
Katharina Behr ◽  
...  
Keyword(s):  
Stem Cell ◽  
Tuberous Sclerosis ◽  
Cell Model ◽  
Human Stem Cell ◽  
Stem Cell Model

scholarly journals Early Developmental Perturbations in a Human Stem Cell Model of MODY5/HNF1B Pancreatic Hypoplasia

2016 ◽  
Vol 6 (3) ◽  
pp. 357-367 ◽  
Author(s):  
Adrian Kee Keong Teo ◽  
Hwee Hui Lau ◽  
Ivan Achel Valdez ◽  
Ercument Dirice ◽  
Erling Tjora ◽  
...  
Keyword(s):  
Stem Cell ◽  
Cell Model ◽  
Human Stem Cell ◽  
Stem Cell Model ◽  
Pancreatic Hypoplasia ◽  
Early Developmental
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