Future avenues for therapy development for spinal muscular atrophy

The role of survival motor neuron protein (SMN) in protein homeostasis

(2018) Helena Chaytow et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Dysregulation of Mdm2 and Mdm4 alternative splicing underlies motor neuron death in spinal muscular atrophy

(2018) Meaghan Van Alstyne et al.   GENES & DEVELOPMENT

Advances in therapy for spinal muscular atrophy: promises and challenges

(2018) Ewout J. N. Groen et al.   Nature Reviews Neurology

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

(2018) Eugenio Mercuri et al.   NEW ENGLAND JOURNAL OF MEDICINE

Advances in understanding the role of disease-associated proteins in spinal muscular atrophy

(2017) Seyyedmohsen Hosseinibarkooie et al.   Expert Review of Proteomics

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

(2017) Jerry R. Mendell et al.   NEW ENGLAND JOURNAL OF MEDICINE

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

(2017) Richard S. Finkel et al.   NEW ENGLAND JOURNAL OF MEDICINE

In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology

(2017) Paola Bernabò et al.   Cell Reports

Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy

(2017) Penelope J. Boyd et al.   PLoS Genetics

Deficiency of the Survival of Motor Neuron Protein Impairs mRNA Localization and Local Translation in the Growth Cone of Motor Neurons

(2016) Claudia Fallini et al.   JOURNAL OF NEUROSCIENCE

Repeated low doses of morpholino antisense oligomer: an intermediate mouse model of spinal muscular atrophy to explore the window of therapeutic response

(2015) Haiyan Zhou et al.   HUMAN MOLECULAR GENETICS

Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy

(2014) Thomas M. Wishart et al.   JOURNAL OF CLINICAL INVESTIGATION

Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation

(2014) Shingo Kariya et al.   JOURNAL OF CLINICAL INVESTIGATION

The spinal muscular atrophy disease protein SMN is linked to the rho-kinase pathway via profilin

(2011) Anna Nölle et al.   HUMAN MOLECULAR GENETICS

Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model

(2011) Yimin Hua et al.   NATURE

Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model

(2010) Mélissa Bowerman et al.   HUMAN MOLECULAR GENETICS

Alternative Splicing Events Are a Late Feature of Pathology in a Mouse Model of Spinal Muscular Atrophy

(2009) Dirk Bäumer et al.   PLoS Genetics