Spinal muscular atrophy is an autosomal recessive disease characterized by motor neuron loss leading a progressive paralysis of skeletal muscles. In this study, we characterized at morphological level, spinal cord and brain of transgenic SMAdelta7 mouse model, mimicking SMA type II, in order to better define which neuron populations are more vulnerable to SMA progression during development. We found that larger motor neurons innervating proximal muscles result more vulnerable to loss and that degeneration is not restricted to lower motorneurons, but the upper motor system is also involved in SMA progression. These studies allowed to have a read out to assess the efficacy of gene therapy approaches after restoration of both FL-SMN and a-SMN protein levels by using adeno-viral vectors.

(2013). Transgenic mouse model for spinal muscular atrophy: morphological characterization and gene therapy approach. (Tesi di dottorato, Università degli Studi di Milano-Bicocca, 2013).

Transgenic mouse model for spinal muscular atrophy: morphological characterization and gene therapy approach

D'ERRICO, PAOLO
2013

Abstract

Spinal muscular atrophy is an autosomal recessive disease characterized by motor neuron loss leading a progressive paralysis of skeletal muscles. In this study, we characterized at morphological level, spinal cord and brain of transgenic SMAdelta7 mouse model, mimicking SMA type II, in order to better define which neuron populations are more vulnerable to SMA progression during development. We found that larger motor neurons innervating proximal muscles result more vulnerable to loss and that degeneration is not restricted to lower motorneurons, but the upper motor system is also involved in SMA progression. These studies allowed to have a read out to assess the efficacy of gene therapy approaches after restoration of both FL-SMN and a-SMN protein levels by using adeno-viral vectors.
BATTAGLIA, GIORGIO
spinal muscular atrophy, SMN, motor neuron, mouse model, gene therapy
BIO/13 - BIOLOGIA APPLICATA
English
18-mar-2013
SCUOLA DI DOTTORATO IN MEDICINA TRASLAZIONALE E MOLECOLARE (DIMET) - 72R
25
2011/2012
open
(2013). Transgenic mouse model for spinal muscular atrophy: morphological characterization and gene therapy approach. (Tesi di dottorato, Università degli Studi di Milano-Bicocca, 2013).
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/43369
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