Edaravone is a candidate agent for spinal muscular atrophy: In vitro analysis using a human induced pluripotent stem cells-derived disease model

2017 ◽  
Vol 814 ◽  
pp. 161-168 ◽  
Author(s):  
Shiori Ando ◽  
Michinori Funato ◽  
Kazuki Ohuchi ◽  
Tsubasa Kameyama ◽  
Satoshi Inagaki ◽  
...  
Keyword(s):  
Stem Cells ◽  
Spinal Muscular Atrophy ◽  
Induced Pluripotent Stem Cells ◽  
Pluripotent Stem Cells ◽  
Muscular Atrophy ◽  
Disease Model ◽  
Induced Pluripotent ◽  
Vitro Analysis ◽  
In Vitro Analysis

scholarly journals Induced pluripotent stem cells from a spinal muscular atrophy patient

Nature ◽  
2008 ◽  
Vol 457 (7227) ◽  
pp. 277-280 ◽  
Author(s):  
Allison D. Ebert ◽  
Junying Yu ◽  
Ferrill F. Rose ◽  
Virginia B. Mattis ◽  
Christian L. Lorson ◽  
...  
Keyword(s):  
Stem Cells ◽  
Spinal Muscular Atrophy ◽  
Induced Pluripotent Stem Cells ◽  
Pluripotent Stem Cells ◽  
Muscular Atrophy ◽  
Spinal Muscular Atrophy Patient ◽  
Induced Pluripotent

Gene Corrected Spinal Muscular Atrophy-Induced Pluripotent Stem Cells and Motoneuron as a Model and Cell Source for Transplantation (P03.176)

Neurology ◽  
2012 ◽  
Vol 78 (Meeting Abstracts 1) ◽  
pp. P03.176-P03.176
Author(s):  
S. Corti ◽  
M. Nizzardo ◽  
C. Simone ◽  
M. Falcone ◽  
M. Nardini ◽  
...  
Keyword(s):  
Stem Cells ◽  
Spinal Muscular Atrophy ◽  
Induced Pluripotent Stem Cells ◽  
Pluripotent Stem Cells ◽  
Muscular Atrophy ◽  
Cell Source ◽  
Induced Pluripotent

Gene Corrected Spinal Muscular Atrophy-Induced Pluripotent Stem Cells and Motoneuron as a Model and Cell Source for Transplantation (IN8-2.002)

Neurology ◽  
2012 ◽  
Vol 78 (Meeting Abstracts 1) ◽  
pp. IN8-2.002-IN8-2.002
Author(s):  
S. Corti ◽  
M. Nizzardo ◽  
C. Simone ◽  
M. Falcone ◽  
M. Nardini ◽  
...  
Keyword(s):  
Stem Cells ◽  
Spinal Muscular Atrophy ◽  
Induced Pluripotent Stem Cells ◽  
Pluripotent Stem Cells ◽  
Muscular Atrophy ◽  
Cell Source ◽  
Induced Pluripotent

Induced Pluripotent Stem Cells From a Patient with Reticular Dysgenesis Recapitulate Defective Myelopoiesis in-Vitro: A Disease Model to Enhance Our Understanding of a Rare Disease.

Blood ◽  
2012 ◽  
Vol 120 (21) ◽  
pp. 2142-2142
Author(s):  
Katja G. Weinacht ◽  
Kerstin Felgentreff ◽  
Alex Devine ◽  
Axel Schambach ◽  
Waleed Al-herz ◽  
...  
Keyword(s):  
Stem Cells ◽  
Induced Pluripotent Stem Cells ◽  
Rare Disease ◽  
Pluripotent Stem Cells ◽  
Adenylate Kinase ◽  
Genetic Defect ◽  
Disease Model ◽  
Maturation Arrest ◽  
Induced Pluripotent

Abstract Abstract 2142 Reticular dysgenesis (RD) is one of the most severe forms of combined immunodeficiency characterized by severe congenital neutropenia (SCN) and impaired lymphocyte development. Origin of the neutropenia is thought to be an early differentiation arrest at the promyelocte stage. Recently the disease has been mapped to mutations in the gene encoding for Adenylate Kinase 2 (AK2). Adenylate kinase 2 is a phosphokinase implicated in mitochondrial energy homeostasis. The exact mechanism, however, how a defect in this ubiquitously expressed enzyme selectively manifests in defective granulopoiesis and lymphopoiesis remains poorly understood. A significant obstacle to the study of rare diseases like Reticular Dysgenesis has been the inadequacy of animal models and limited availability of patient specimens. We have successfully generated induced pluripotent stem cells (iPSCs) from a patient with Reticular Dysgenesis and proven genetic defect in Adenylate Kinase 2 (AK2). Myeloid precursors derived from the AK2-deficient iPSCs morphologically mimic the myeloid maturation arrest seen in the bone marrow of patients with this condition (Figure 1). We are currently using this in-vitro model as a platform to study the mechanisms underlying the maturation arrest on a cellular and molecular level. Summary: Here we report a pluripotent stem cell (iPSC)-based disease model for Reticular Dysgenesis. This model does not only accurately recapitulate the myeloid disease phenotype observed in vivo but enables us to study previously unknown disease pathology. This is an example how iPSC technology enhances our understanding of a rare disease that has thus far been limited by the availability of study material. Disclosures: No relevant conflicts of interest to declare.

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