Title: Faculty & research interests





Livio  Pellizzoni
Livio Pellizzoni, PhD
Assistant Professor
Associate Member

Department: Pathology and Cell Biology
Motor Neuron Center

P&S 5-421

Personal Website

Disease Models: Drug Screening, Neurodegenerative Diseases

Stem Cell Categories: ES and other embryonic stem cells

Model Organisms: Human, Rodent

Themes: Neurodegeneration

Control of the mRNA biogenesis pathway at multiple levels is critical for the proper temporal and spatial regulation of eukaryotic gene expression programs. Genetic mutations that affect the efficiency and fidelity of this pathway are often implicated in the etiology of inherited human neurodegenerative disorders. Research in my laboratory aims at understanding the basic mechanisms of gene regulation at the post-transcriptional level as well as the role of RNA dysfunction in the pathophysiology of human motor neuron diseases. In particular, we study the molecular functions of the survival motor neuron (SMN) protein whose reduced expression causes the inherited motor neuron disease spinal muscular atrophy (SMA), which is the leading genetic cause of death in infants. We employ a variety of biochemical, molecular and cell-biological methods to investigate the normal functions of SMN in motor neurons and the pathological consequences of SMN deficiency in animal and cellular model systems. Beyond providing fundamental insights into RNA metabolism and motor neuron biology, our efforts aim to unravel the molecular defects of SMA and develop appropriate therapeutic strategies.


Workman E, Saieva L, Carrel TL, Crawford TO, Liu D, Lutz C, Beattie CE, Pellizzoni L, Burghes AH
A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice Hum. Mol. Genet. 18:2215-29. (2009)

Pellizzoni L
Chaperoning ribonucleoprotein biogenesis in health and disease. EMBO Rep 8:340-5. (2007)

Gabanella F, Butchbach MER, Saieva L, Carissimi C, Burghes AH, Pellizzoni L
Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs. PLoS ONE e921:2. (2007)

Avila AM, Burnett BG, Taye AA, Gabanella F, Knight MA, Hartenstein P, Cizman Z, Di Prospero NA, Pellizzoni L, Fischbeck KH, Sumner CJ
Trichostatin A increases SMN gene expression and survival in spinal muscular atrophy mice. J. Clin. Invest. 117:659-71. (2007)

Gabanella F, Carissimi C, Usiello A, Pellizzoni L
The activity of the Spinal Muscular Atrophy protein is regulated during development and cellular differentiation. Hum. Mol. Genet. 14:3629-42. (2005)

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