Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties

Experimental Neurology

Volumn 263, Issue , 2015, Pages 190-199

  Saporta, Mario A ^a,b   Dang, Vu ^b   Volfson, Dmitri ^b   Zou, Bende ^c   Xie, Xinmin Simon ^c   Adebola, Adijat ^d   Liem, Ronald K ^d   Shy, Michael ^a   Dimos, John T ^b  

^a UNIVERSITY OF IOWA   (United States)

^b IPierian Inc   (United States)

^c AfaSci Inc   (United States)

^d Department of Medicine   (United States)

Author keywords

Axonal Charcot Marie Tooth disease; Axonal transport; Electrophysiology; Induced pluripotent stem cells; Inherited Neuropathies; Motor neurons

Indexed keywords

GUANOSINE TRIPHOSPHATASE; MFN2 PROTEIN, HUMAN; MITOCHONDRIAL PROTEIN; NEUROFILAMENT PROTEIN; NEUROFILAMENT PROTEIN L;

ADULT; ANIMAL; CELL SEPARATION; CHILD; ELECTROPHYSIOLOGY; FEMALE; GENE TARGETING; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INDUCED PLURIPOTENT STEM CELL; INTERMEDIATE FILAMENT; MALE; MITOCHONDRION; MOTONEURON; MOUSE; PATCH CLAMP TECHNIQUE; PATHOLOGY; PATHOPHYSIOLOGY; PHENOTYPE; POINT MUTATION; REAL TIME POLYMERASE CHAIN REACTION;

ADULT; ANIMALS; CELL SEPARATION; CHARCOT-MARIE-TOOTH DISEASE; CHILD; ELECTROPHYSIOLOGICAL PHENOMENA; FEMALE; GENE KNOCK-IN TECHNIQUES; GTP PHOSPHOHYDROLASES; HUMANS; INDUCED PLURIPOTENT STEM CELLS; INTERMEDIATE FILAMENTS; MALE; MICE; MITOCHONDRIA; MITOCHONDRIAL PROTEINS; MOTOR NEURONS; NEUROFILAMENT PROTEINS; PATCH-CLAMP TECHNIQUES; PHENOTYPE; POINT MUTATION; REAL-TIME POLYMERASE CHAIN REACTION;

EID: 84949116893     PISSN: 00144886     EISSN: 10902430     Source Type: Journal    
DOI: 10.1016/j.expneurol.2014.10.005     Document Type: Article

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