Recombinant SMN protein synergizes with spinal muscular atrophy therapy to counteract pathological motor neuron phenotypes  

作　　者：Liliana Brambilla Chiara F.Valori Giulia Guidotti Francesca Martorana Claudia Sulmona Lisa Benedetta De Martini Anselmo Canciani Marco Fumagalli Francesca Talpo Gerardo Biella Elisa Di Pasquale Claudio Iacobucci Federico Forneris Haiyan Zhou Daniela Rossi 

机构地区：[1]Laboratory for Research on Neurodegenerative Disorders,Istituti Clinici Scientifici Maugeri IRCCS,27100 Pavia,Italy [2]The Armenise-Harvard Laboratory of Structural Biology,Department of Biology and Biotechnology,University of Pavia,27100 Pavia,Italy [3]Department of Biology and Biotechnology,University of Pavia,27100 Pavia,Italy [4]Humanitas Cardio Center,IRCCS Humanitas Research Hospital,20089 Rozzano,Milan,Italy [5]Institute of Genetic and Biomedical Research(IRGB),UOS of Milan-National Research Council of Italy(CNR),20138 Milan,Italy [6]Department of Physical and Chemical Sciences,University of L’Aquila,67100 L’Aquila,Italy [7]Fondazione IRCCS Policlinico San Matteo,27100 Pavia,Italy [8]Dubowitz Neuromuscular Centre and National Institute for Health Research,Great Ormond Street Institute of Child Health,Biomedical Research Centre,University College London,London,UK

出　　处：《Translational Neurodegeneration》2024年第1期114-118,共5页转化神经变性病(英文)

基　　金：supported by AFM-Téléthon(16177,18221,21565 to DR);Associazione Girotondo ODV(to DR)and the“Ricerca Corrente”funding scheme of the Italian Ministry of Health(to the Istituti Clinici Scientifici Maugeri—IRCCS).Research in the FF lab is supported by the Armenise-Harvard Foundation(CDA 2013 to FF);by the Italian Association for Cancer Research(AIRC,MFAG 20075 and Bridge 27004 to FF);by Velux Stiftung(grant 1375 to FF);by the Italian Ministry for Research(MUR)—Dipartimenti di Eccellenza 2018–2022(to the Department of Biology and Biotechnology of the University of Pavia).

摘　　要：Main text Spinal muscular atrophy(SMA)linked to chromosome 5q is an autosomal recessive neuromuscular disease caused by mutations/deletions in the Survival Motor Neuron 1(SMN1)gene,with consequent reductions of the level of the SMN protein.This results in spinal motor neuron degeneration and variable clinical presentations.The prognosis depends on the phenotypic severity,ranging from high mortality for the infantile form(SMA type 1)to no decrease of lifespan for the chronic and later-onset forms[1].Humans possess a paralogous SMN2 gene,which exhibits a single-nucleotide transition compared to SMN1,resulting in aberrant splicing of 80%–90%of SMN2-derived pre-mRNAs.

关 键 词：ATROPHY MUSCULAR DEGENERATION 

分 类 号：R73[医药卫生—肿瘤]