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T1  - ALS and Parkinson's disease genes CHCHD10 and CHCHD2 modify synaptic transcriptomes in human iPSC-derived motor neurons 
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UR  - http://hdl.handle.net/10138/317778 
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A1  - Harjuhaahto, Sandra; Rasila, Tiina S.; Molchanova, Svetlana M.; Woldegebriel, Rosa; Kvist, Jouni; Konovalova, Svetlana; Sainio, Markus T.; Pennonen, Jana; Torregrosa-Munumer, Ruben; Ibrahim, Hazem; Otonkoski, Timo; Taira, Tomi; Ylikallio, Emil; Tyynismaa, Henna 
A2  -  
PB  -  
Y1  - 2020 
LA  - eng 
AB  - Mitochondrial intermembrane space proteins CHCHD2 and CHCHD10 have roles in motor neuron diseases such as amyotrophic lateral sclerosis, spinal muscular atrophy and axonal neuropathy and in Parkinson's disease. They form a complex of unknown function. Here we address the importance of these two proteins in human motor neurons. We show that gene edited human induced pluripotent stem cells (iPSC) lacking either CHCHD2 or CHCHD10 are viable and can be differentiated into functional motor neurons th... 
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KW  - CHCHD2; CHCHD10; Induced pluripotent stem cell; Motor neuron differentiation; CMT2; SMAJ; ALS; Mitochondria; CRISPR/Cas9; RNA sequencing; AMYOTROPHIC-LATERAL-SCLEROSIS; PLURIPOTENT STEM-CELLS; ENERGY-METABOLISM; MUTATIONS; POTENTIATION; RECEPTORS; GLUTAMATE; RELEASE; DPP6; 3112 Neurosciences; 3124 Neurology and psychiatry 
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