Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy

Cellular distribution and dynamics of mitochondria are regulated by several motor proteins and a microtubule network. In neurons, mitochondrial trafficking is crucial because of high energy needs and calcium ion buffering along axons to synapses during neurotransmission. The trafficking kinesin prot...

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Veröffentlicht in:	Brain (London, England : 1878) England : 1878), 2017-03, Vol.140 (3), p.568-581
Hauptverfasser:	Barel, Ortal, Malicdan, May Christine V, Ben-Zeev, Bruria, Kandel, Judith, Pri-Chen, Hadass, Stephen, Joshi, Castro, Inês G, Metz, Jeremy, Atawa, Osama, Moshkovitz, Sharon, Ganelin, Esther, Barshack, Iris, Polak-Charcon, Sylvie, Nass, Dvora, Marek-Yagel, Dina, Amariglio, Ninette, Shalva, Nechama, Vilboux, Thierry, Ferreira, Carlos, Pode-Shakked, Ben, Heimer, Gali, Hoffmann, Chen, Yardeni, Tal, Nissenkorn, Andreea, Avivi, Camila, Eyal, Eran, Kol, Nitzan, Glick Saar, Efrat, Wallace, Douglas C, Gahl, William A, Rechavi, Gideon, Schrader, Michael, Eckmann, David M, Anikster, Yair
Format:	Artikel
Sprache:	eng
Schlagworte:	Adaptor Proteins, Vesicular Transport - genetics Adaptor Proteins, Vesicular Transport - metabolism Brain Diseases - diagnostic imaging Brain Diseases - genetics Brain Diseases - mortality Brain Diseases - pathology Cells, Cultured Child, Preschool Consanguinity Family Health Female Fibroblasts - pathology Fibroblasts - ultrastructure Genetic Association Studies Green Fluorescent Proteins - genetics Green Fluorescent Proteins - metabolism Humans Infant Magnetic Resonance Imaging Male Mitochondria - metabolism Mitochondrial Dynamics - genetics Original Oxygen Consumption - genetics Protein Transport - genetics Transfection
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