Over the years, my research has focused on mechanisms of neurodegeneration, first on Amyotrophic Lateral Sclerosis (ALS) and later as a Principal Investigator on Friedreich’s ataxia (FRDA). My studies have led to the discovery of an early role of mitochondrial dynamics and axonal transport abnormalities in these two diseases and uncovered an unknown neurodevelopmental component in FRDA pathology. My research efforts are aimed to answer three important knowledge gaps in the field of FRDA, an autosomal recessive disease caused by mutations in the frataxin gene (FXN). First, the functional bases for the selective vulnerability of large mechanoreceptive sensory neurons (SN) to the loss of FXN, with a focus on mitochondrial function and mitochondrial dynamics. Second, a potential neurodevelopmental element affecting mainly sensorimotor circuitries, which may occur during neuron and glia development, and neuronal network maturation. And third, a cell and non-cell autonomous component of the disease, with a specific interest in myelinating cells.
List of selected publications:
Bolea I, Gan WB, Manfredi G, Magrané J (2014) Imaging of mitochondrial dynamics in motor and sensory axons of living mice. Methods Enzymol. 547:97-110. PMID: 25416354
Lin H, Magrané J, Rattelle A, Stepanova A, Galkin A, Clark EM, Dong Y, Halawani SM, Lynch DR (2017) Early cerebellar deficits in mitochondrial biogenesis and respiratory chain complexes in the KIKO mouse model of Friedreich ataxia. Dis Model Mech. 10(11):1343-1352. PMID: 29125827
Lin H, Magrané J, Clark EM, Halawani SM, Warren N, Rattelle A, Lynch DR (2017) Early VGLUT1-specific parallel fiber synaptic deficits and dysregulated cerebellar circuit in the KIKO mouse model of Friedreich ataxia. Dis Model Mech. 10(12):1529-1538. PMID: 29259026
Stepanova A, Magrané J*. (2020). Mitochondrial dysfunction in neurons in Friedreich’s ataxia. Mol Cell Neurosci. Nov 23;102:103419. PMID: 31770591
Cichon J*, Magrané J*, Shtridler E, Chen C, Sun L, Yang G, Gan WB (2020) Imaging neuronal activity in central and peripheral nervous systems using Thy1.2-GCaMP6 transgenic mice. J Neurosci Methods Jan 20; 334:108535. PMID: 31972184
Complete List of Published Work in PubMed:
https://pubmed.ncbi.nlm.nih.gov/?term=magrane+j&sort=pubdate&size=50