- Assistant Professor of Neurology
Departments / Divisions
- Neurology - Institute for Cell Engineering
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Elucidating the key mechanisms underlying mitochondrial dysfunction in neurodegenerative disorders.
My laboratory studies the molecular basis underlying protein misfolding and mitochondrial dysfunction in neurodegenerative disorders by studying the effects of pathogenic mutations on cell pathways and processes, which result in neuronal death. In particular, we are focusing on the role of the neuroprotective AAA+ ATPase Thorase in neurological diseases such as Alzheimer's disease and Parkinson’s disease. We use a combination of numerous state-of-the-art techniques spanning X-ray crystallization, cryo electron microscopy, single molecule pull-down, single-cell laser capture microscopy, biochemistry, genetics, molecular biology, proteomic profiling, immunohistochemistry, cell-based assays and behavioral studies to study protein complexes associated with neurological diseases.
Structural Biology and Protein Biochemistry
Umanah GKE, Pignatelli M, Yin X, Chen R, Crawford J, Neifert S, Scarffe L, Behensky AA, Guiberson N, Chang M, Ma E, Kim JW, Castro CC, Mao X, Chen L, Andrabi SA, Pletnikov MV, Pulver AE, Avramopoulos D, Bonci A, Valle D, Dawson TM, Dawson VL. Thorase variants are associated with defects in glutamatergic neurotransmission that can be rescued by Perampanel. Sci Transl Med. 2017 Dec 13;9(420). pii: eaah4985. doi: 10.1126/scitranslmed.aah4985. PMID: 29237760
Ahrens-Nicklas RC, Umanah GK, Sondheimer N, Deardorff MA, Wilkens AB, Conlin LK, Santani AB, Nesbitt A, Juulsola J, Ma E, Dawson TM, Dawson VL, Marsh ED. Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1. Neurol Genet. 2017 Feb 1;3(1):e130. doi: 10.1212/NXG.0000000000000130. eCollection 2017 Feb. PMID: 28180185
Pignatelli M, Umanah GKE, Ribeiro SP, Chen R, Karuppagounder SS, Yau HJ, Eacker S, Dawson VL, Dawson TM, Bonci A. Synaptic Plasticity onto Dopamine Neurons Shapes Fear Learning. Neuron. 2017 Jan 18;93(2):425-440. doi: 10.1016/j.neuron.2016.12.030. PMID: 28103482
Wang Y, An R, Umanah GK, Park H, Nambiar K, Eacker SM, Kim B, Bao L, Harraz MM, Chang C, Chen R, Wang JE, Kam TI, Jeong JS, Xie Z, Neifert S, Qian J, Andrabi SA, Blackshaw S, Zhu H, Song H, Ming GL, Dawson VL, Dawson TM. A nuclease that mediates cell death induced by DNA damage and poly(ADP-ribose) polymerase-1. Science. 2016 Oct 7;354(6308). pii: aad6872.
Chen YC, Umanah GK, Dephoure N, Andrabi SA, Gygi SP, Dawson TM, Dawson VL, Rutter J. Msp1/ATAD1 maintains mitochondrial function by facilitating the degradation of mislocalized tail-anchored proteins. EMBO J. 2014 Jul 17;33(14):1548-64. doi: 10.15252/embj.201487943. Epub 2014 May 19. PMID: 24843043
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MRB 731, The Johns Hopkins University School of Medicine, Institute for Cell Engineering
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