Combined treatment with the histone deacetylase inhibitor LBH589 and a splice‐switch antisense oligonucleotide enhances SMN2 splicing and SMN expression in Spinal Muscular Atrophy cells

Two breakthrough gene-targeted treatments for spinal muscular atrophy: challenges remain

(2018) Charlotte J. Sumner et al.   JOURNAL OF CLINICAL INVESTIGATION

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

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

Discovery of Risdiplam, a Selective Survival of Motor Neuron-2 (SMN2) Gene Splicing Modifier for the Treatment of Spinal Muscular Atrophy (SMA)

(2018) Hasane Ratni et al.   JOURNAL OF MEDICINAL CHEMISTRY

Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I

(2017) Kristin J. Krosschell et al.   MUSCLE & NERVE

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

Transcript, methylation and molecular docking analyses of the effects of HDAC inhibitors, SAHA and Dacinostat, on SMN2 expression in fibroblasts of SMA patients

(2016) Jafar Mohseni et al.   JOURNAL OF HUMAN GENETICS

Sam68 promotes self-renewal and glycolytic metabolism in mouse neural progenitor cells by modulating Aldh1a3 pre-mRNA 3'-end processing

(2016) Piergiorgio La Rosa et al.   eLife

Developing therapies for spinal muscular atrophy

(2015) Mary H. Wertz et al.   Annals of the New York Academy of Sciences

SAM68 is a physiological regulator ofSMN2splicing in spinal muscular atrophy

(2015) Vittoria Pagliarini et al.   JOURNAL OF CELL BIOLOGY

Spinal Muscular Atrophy: From Gene Discovery to Clinical Trials

(2013) Dian K. Nurputra et al.   ANNALS OF HUMAN GENETICS

Spinal muscular atrophy: Development and implementation of potential treatments

(2013) W. David Arnold et al.   ANNALS OF NEUROLOGY

Histone deacetylase inhibitors as potential treatment for spinal muscular atrophy

(2013) Jafar Mohseni et al.   GENETICS AND MOLECULAR BIOLOGY

SMA valiant trial: A prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy

(2013) John T. Kissel et al.   MUSCLE & NERVE

Increasing SMN levels using the histone deacetylase inhibitor SAHA ameliorates defects in skeletal muscle microvasculature in a mouse model of severe spinal muscular atrophy

(2013) Eilidh Somers et al.   NEUROSCIENCE LETTERS

Valproic acid increases SMN2 expression and modulates SF2/ASF and hnRNPA1 expression in SMA fibroblast cell lines

(2011) Indra Sari Kusuma Harahap et al.   BRAIN & DEVELOPMENT

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

(2011) Yimin Hua et al.   NATURE

The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy

(2010) Simona Pedrotti et al.   EMBO JOURNAL

A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity

(2010) S. Cho et al.   GENES & DEVELOPMENT

LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate

(2009) Lutz Garbes et al.   HUMAN MOLECULAR GENETICS