Assessing the pathogenetic role of tRNA and rRNA deregulation in disease-specific human and mouse models to understand pathogenesis and identify molecular therapeutics targets for Spinal Muscular Atrophy with Respiratory Distress type 1

Project

Overview

Contributors

BLASI FRANCESCO BRUNO ARTURO   Scientific Manager  

Departments involved

Type

CAR_RIC - Bandi Fondazione Cariplo

Funder

FONDAZIONE CARIPLO
External Organization Funding Organization

Date/time interval

October 1, 2016 - September 30, 2018

Project duration

24 months

Publications

Outputs (2)

Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired 
JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY
2022
Academic Article
Altmetric is disabled. Enable it on "Use of Cookies"
CSF transplantation of a specific iPSC-derived neural stem cell subpopulation ameliorates the disease phenotype in a mouse model of spinal muscular atrophy with respiratory distress type 1 
EXPERIMENTAL NEUROLOGY
ELSEVIER : ACADEMIC PRESS
2019
Academic Article
Partially Open Access
Altmetric is disabled. Enable it on "Use of Cookies"