Plastin 3 Expression Does Not Modify Spinal Muscular Atrophy Severity in the ∆7 SMA Mouse

Deletion of atrophy enhancing genes fails to ameliorate the phenotype in a mouse model of spinal muscular atrophy

(2014) Chitra C. Iyer et al.   NEUROMUSCULAR DISORDERS

SMN control of RNP assembly: From post-transcriptional gene regulation to motor neuron disease

(2014) Darrick K. Li et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Calcium binding is essential for plastin 3 function in Smn-deficient motoneurons

(2013) Alison N. Lyon et al.   HUMAN MOLECULAR GENETICS

Correlation of PLS3 expression with disease severity in children with spinal muscular atrophy

(2013) Cao Yanyan et al.   JOURNAL OF HUMAN GENETICS

A common gene variant in PLS3 predicts colon cancer recurrence in women

(2013) Joanna Szkandera et al.   TUMOR BIOLOGY

Electrophysiological biomarkers in spinal muscular atrophy: proof of concept

(2013) W. David Arnold et al.   Annals of Clinical and Translational Neurology

Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality

(2012) Bastian Ackermann et al.   HUMAN MOLECULAR GENETICS

Regulation of T-Plastin Expression by Promoter Hypomethylation in Primary Cutaneous T-Cell Lymphoma

(2012) Christine L. Jones et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Survival Motor Neuron Affects Plastin 3 Protein Levels Leading to Motor Defects

(2012) L. T. Hao et al.   JOURNAL OF NEUROSCIENCE

Survival Motor Neuron Protein in Motor Neurons Determines Synaptic Integrity in Spinal Muscular Atrophy

(2012) T. L. Martinez et al.   JOURNAL OF NEUROSCIENCE

Reduced protein stability of human DJ-1/PARK7 L166P, linked to autosomal recessive Parkinson disease, is due to direct endoproteolytic cleavage by the proteasome

(2011) Beatriz Alvarez-Castelao et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Zebrafish mnx1 controls cell fate choice in the developing endocrine pancreas

(2011) G. Dalgin et al.   DEVELOPMENT

Increased IGF-1 in muscle modulates the phenotype of severe SMA mice

(2011) Marta Bosch-Marcé et al.   HUMAN MOLECULAR GENETICS

Temporal requirement for high SMN expression in SMA mice

(2011) T. T. Le et al.   HUMAN MOLECULAR GENETICS

Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings

(2011) Sara Bernal et al.   NEUROMUSCULAR DISORDERS

Association of Plastin 3 Expression With Disease Severity in Spinal Muscular Atrophy Only in Postpubertal Females

(2010) George Stratigopoulos et al.   ARCHIVES OF NEUROLOGY

Splicing regulation of the Survival Motor Neuron genes and implications for treatment of spinal muscular atrophy

(2010) Thomas et al.   Frontiers in Bioscience-Landmark

The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor

(2010) S. Bernal et al.   JOURNAL OF MEDICAL GENETICS

Altered Intracellular Ca2+ Homeostasis in Nerve Terminals of Severe Spinal Muscular Atrophy Mice

(2010) R. Ruiz et al.   JOURNAL OF NEUROSCIENCE

Synaptic Defects in the Spinal and Neuromuscular Circuitry in a Mouse Model of Spinal Muscular Atrophy

(2010) Karen K. Y. Ling et al.   PLoS One

A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene

(2009) Thomas W. Prior et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian population

(2009) M. Hasanzad et al.   EUROPEAN JOURNAL OF NEUROLOGY

A rareSMN2variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy

(2009) Myriam Vezain et al.   HUMAN MUTATION

Impaired Synaptic Vesicle Release and Immaturity of Neuromuscular Junctions in Spinal Muscular Atrophy Mice

(2009) L. Kong et al.   JOURNAL OF NEUROSCIENCE

SMN, profilin IIa and plastin 3: A link between the deregulation of actin dynamics and SMA pathogenesis

(2009) Mélissa Bowerman et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

(2009) Arthur H. M. Burghes et al.   NATURE REVIEWS NEUROSCIENCE

Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect

(2008) T. O. Gavrilina et al.   HUMAN MOLECULAR GENETICS

Embryonic motor axon development in the severe SMA mouse

(2008) V. L. McGovern et al.   HUMAN MOLECULAR GENETICS

Regulation of SMN Protein Stability

(2008) B. G. Burnett et al.   MOLECULAR AND CELLULAR BIOLOGY

Restoring Bcl-xL levels benefits a mouse model of spinal muscular atrophy

(2008) Li-Kai Tsai et al.   NEUROBIOLOGY OF DISEASE

Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy

(2008) G. E. Oprea et al.   SCIENCE