Publications

Gropman, A., Uittenbogaard, M., and Chiaramello A. (2024). Challenges and Opportunities to Bridge Translational to Clinical Research for Personalized Mitochondrial Medicine. Neurotherapeutics, e00311

Uittenbogaard, M., Gropman, A., Whitehead, M.T., Brantner, C.A., Gropman, E., and Chiaramello A. (2024). Dysfunctional postnatal mitochondrial energy metabolism in a patient with neurodevelopmental defects caused by intrauterine growth restriction due to idiopathic placental insufficiency. Int. J. Mol. Sci. 25, 1386

Li, H., Uittenbogaard, M., Navarro, R., Ahmed, M., Gropman, a., Chiaramello, A., and Hao, L. (2022) Integrated proteomic and metabolomic analyses of the mitochondrial neurodegenerative disease MELAS. Mo. Omics 18 (3): 196-205. doi: 10.1039/d1mo00416f

Li, H., Uittenbogaard, M., Hao, L., and Chiaramello, A. (2021) Clinical insights into mitochondrial neurodevelopmental and neurodegenerative disorders: their biosignatures from mass spectrometry-based metabolomics. Metabolites 11, 233. https://doi.org/10.3390/metabo11040233

Uittenbogaard, M., Sen, K., Whitehead, M., Brantner, CA>, Wang, Y., Wong, L-J., Gropman, A., and Chiaramello, A. (2021) Genetic and mitochondrial metabolic analyses of an atypical form of Leigh syndrome. Front. Cell Dev. Biol. 9:767407. doi: 103389/fcell.202.767407

Uittenbogaard, M., and Chiaramello, A. (2020) Maternally inherited mitochondrial respiratory disorders: From pathogenetic principles to therapeutic implications. Mol. Genet. Metab. epub ahead of print for the Special Issue on Mitochondria (September/October 2020). https://doi.org/10.1016/j.ymgme.2020.06.011.

Gropman, A., Uittenbogaard, M., Brantner, CA., Wang, Y., Wong, L-J., and Chiaramello A. (2020). Molecular genetic and mitochondrial metabolic analyses confirm the suspected mitochondrial etiology in a pediatric patient with an atypical form of alternating hemiplegia of childhood. Mol. Genet. Metab. Rep. 24: 100609, https://doi.org/10.1016/j.ymgmr.2020.100609

Uittenbogaard, M., Wang H., Zhang V.W., Wong, L.J., Brantner, C.A., Gropman, A., and Chiaramello, A. (2019). The nuclear background influences the penetrance of the near-homoplasmic m.1630 A>G MELAS variant in a symptomatic proband and asymptomatic mother. Mol Genet Metab. In Press, doi: 10.1016/j.ymgme.2019.01.022

Uittenbogaard, M., Brantner, CA., Fang, Z., Wong, LJ., Gropman, A., and Chiaramello A. (2019). The m.11778 A>G variant associated with the coexistence of Leber’s hereditary optic neuropathy and multiple sclerosis-like illness dysregulates the metabolic interplay between mitochondrial oxidative phosphorylation and glycolysis. (2019) Mitochondrion 46: 187-194.

Uittenbogaard,M., Gropman, A., Brantner, C.A., and Chiaramello, A. 2018.
Novel metabolic signatures of compound heterozygous Szt2 variants in a case of early onset of epileptic encephalopathy.
Clinical Case Reports. 6: 2376-2384

Gropman, A., and Chiaramello, A. (2018) 
Phenotypic spectrum of maternally inherited Leigh Syndrome associated with the m.8993 T>G variant. Molecular Genetics and Metabolism Reports, Vol. 15: 134

Uittenbogaard, M., Brantner, CA, Fang, S, Wong, L-J, Gropman, A, and Chiaramello A. (2018)
Novel insights into the functional metabolic impact of an apparent m.8993 T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh syndrome. Molecular Genetics and Metabolism, https://doi.org/10.1016/j.ymgme.2018.03.011 volume 124: 71-81

Uittenbogaard, M., Brantner, CA., and Chiaramello, A. (2018)
Epigenetic modifiers promote mitochondrial biogenesis and oxidative metabolism leading to enhanced differentiation of neuroprogenitor cells. Cell Death & Disease 9, Article Number 360 (doi:10.1038/s41419-018-0396-1). Featured in Neural Cell News.

Uittenbogaard, M., and Chiaramello, A. (2016)
Novel Sub-Cellular Localization of the DNA Helicase Twinkle at the Kinetochore Complex during mitosis in neuronal-like progenitor cells.
Histochem Cell Biol. 145: 275-286. Featured on the Cover issue.

Uittenbogaard, M., and Chiaramello, A. (2015)
Mitochondrial Respiratory disorders: A perspective on their metabolite biomarkers and implications for clinical diagnosis and therapeutic intervention.
Biomarkers J. 1: 1:1.

Uittenbogaard, M., and Chiaramello, A. (2015)
Mitochondrial Respiratory disorders: A perspective on their metabolite biomarkers and implications for clinical diagnosis and therapeutic intervention.
Biomarkers J. 1: 1:1.

Baxter, K.K., Uittenbogaard, M., and Chiaramello, A. (2012)
The neurogenic basic helix-loop-helix transcription factor NeuroD6 enhances mitochondrial biogenesis and bioenergetics to confer tolerance of neuronal PC12-NeuroD6 cells to the mitochondrial stressor rotenone.
Exp. Cell Res. 318: 2200-2214.

Uittenbogaard, M., Baxter, K. K., and Chiaramello, A. (2010)
The neurogenic basic helix-loop-helix transcription factor NeuroD6 confers tolerance to oxidative stress by triggering an antioxidant response and sustaining the mitochondrial biomass.
ASN NEURO 2(2): e00034.

Uittenbogaard, M., Baxter, K. K., and Chiaramello, A. (2010)
NeuroD6 genomic signature bridging neuronal differentiation to survival via the molecular chaperone network.
J. Neurosci. Res. 88: 33-54. Featured on the Cover issue.

Uittenbogaard, M., Baxter, K. K., and Chiaramello, A. (2009)
Cloning and characterization of the 5’UTR of the rat anti-apoptotic Bcl-w gene. Biochem.
Biophys. Res. Commun. 389:657-662.

Baxter, K. K., Uittenbogaard, M., Yoon, J., and Chiaramello, A. (2009)
The neurogenic basic helix-loop-helix transcription factor NeuroD6 concomitantly increases mitochondrial mass and regulates cytoskeletal organization in the early stages of neuronal differentiation.
ASN NEURO, pii: e00016.

Uittenbogaard, M., Martinka, D. L., Johnson P. F., Vinson, C., and Chiaramello, A. (2007)
The 5’UTR of the neurogenic bHLH Nex1/MATH-2/NeuroD6 gene is regulated by two distinct promoters through CRE and C/EBP binding sites.
J. Neurosc. Res. 85: 1-18.

Uittenbogaard M, Chiaramello, A. (2005)
The bHLH transcription factor Nex1/MATH-2 promotes neuronal survival of PC12 cells by modulating the dynamic expression of anti-apoptotic and cell cycle regulators.
J. Neurochem. 92, 585-596.

Uittenbogaard M, Chiaramello, A. (2005)
The bHLH transcription factor Nex1/MATH-2 promotes neuronal survival of PC12 cells by modulating the dynamic expression of anti-apoptotic and cell cycle regulators.
J. Neurochem. 92, 585-596.

Uittenbogaard, M., Martinka D. L., Chiaramello, A. (2003)
The basic helix-loop-helix differentiation factor Nex1/MATH-2 functions as a key activator of the GAP-43 gene.
J. Neurochem. 84, 678-688.

Uittenbogaard, M., and Chiaramello, A.(2001)
Expression of the bHLH transcription factor ME1 is linked to the expansion of precursor cell populations during neurogenesis.
Gene Exp. Patterns, 1, 115-121.

Uittenbogaard, M and Chiaramello, A. (2001)
Constitutive Overexpression of the bHLH Nex1/MATH-2 Transcription Factor Promotes Neuronal Differentiation of PC12 cells and Neurite Regeneration.
J. Neurosc. Res. 67, 235-245.