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

Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy

(2013) Kornelia Neveling et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Gene Regulatory Networks Mediating Canonical Wnt Signal-Directed Control of Pluripotency and Differentiation in Embryo Stem Cells

(2013) Xiaoxiao Zhang et al.   STEM CELLS

Label-free proteomics identifies Calreticulin and GRP75/Mortalin as peripherally accessible protein biomarkers for spinal muscular atrophy

(2013) Chantal A Mutsaers et al.   Genome Medicine

Glucose metabolism and pancreatic defects in spinal muscular atrophy

(2012) Melissa Bowerman et al.   ANNALS OF NEUROLOGY

An SMN-Dependent U12 Splicing Event Essential for Motor Circuit Function

(2012) Francesco Lotti et al.   CELL

SMN Is Required for Sensory-Motor Circuit Function in Drosophila

(2012) Wendy L. Imlach et al.   CELL

Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585

(2012) Julia Schreml et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A novel function for the survival motoneuron protein as a translational regulator

(2012) Gabriel Sanchez et al.   HUMAN MOLECULAR GENETICS

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

(2012) Bastian Ackermann et al.   HUMAN MOLECULAR GENETICS

Urokinase-type Plasminogen Activator Receptor (uPAR)-mediated Regulation of WNT/β-Catenin Signaling Is Enhanced in Irradiated Medulloblastoma Cells

(2012) Swapna Asuthkar et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Limited Phenotypic Effects of Selectively Augmenting the SMN Protein in the Neurons of a Mouse Model of Severe Spinal Muscular Atrophy

(2012) Andrew J-H. Lee et al.   PLoS One

Spinal muscular atrophy: going beyond the motor neuron

(2012) Gillian Hamilton et al.   TRENDS IN MOLECULAR MEDICINE

A Drosophila Model of Spinal Muscular Atrophy Uncouples snRNP Biogenesis Functions of Survival Motor Neuron from Locomotion and Viability Defects

(2012) Kavita Praveen et al.   Cell Reports

Combining Comparative Proteomics and Molecular Genetics Uncovers Regulators of Synaptic and Axonal Stability and Degeneration In Vivo

(2012) Thomas M. Wishart et al.   PLoS Genetics

Role of ubiquitylation and USP8-dependent deubiquitylation in the endocytosis and lysosomal targeting of plasma membrane KCa3.1

(2011) Corina M. Balut et al.   FASEB JOURNAL

Reversible molecular pathology of skeletal muscle in spinal muscular atrophy

(2011) Chantal A. Mutsaers 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

Density, calibre and ramification of muscle capillaries are altered in a mouse model of severe spinal muscular atrophy

(2011) E. Somers et al.   NEUROMUSCULAR DISORDERS

Early Functional Impairment of Sensory-Motor Connectivity in a Mouse Model of Spinal Muscular Atrophy

(2011) George Z. Mentis et al.   NEURON

Critical Role of PI3K/Akt/GSK3β in Motoneuron Specification from Human Neural Stem Cells in Response to FGF2 and EGF

(2011) Luis Ojeda et al.   PLoS One

Leucine-rich repeat kinase LRRK1 regulates endosomal trafficking of the EGF receptor

(2011) Hiroshi Hanafusa et al.   Nature Communications

Ubiquitin carboxyl-terminal hydrolase L1 (UCHL1) regulates the level of SMN expression through ubiquitination in primary spinal muscular atrophy fibroblasts

(2010) Shih-Hsien Hsu et al.   CLINICA CHIMICA ACTA

SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy

(2010) Markus Riessland et al.   HUMAN MOLECULAR GENETICS

PTEN depletion rescues axonal growth defect and improves survival in SMN-deficient motor neurons

(2010) Ke Ning et al.   HUMAN MOLECULAR GENETICS

SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy

(2010) Thomas M. Wishart et al.   HUMAN MOLECULAR GENETICS

Cardiac defects contribute to the pathology of spinal muscular atrophy models

(2010) Monir Shababi et al.   HUMAN MOLECULAR GENETICS

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

The SMN Interactome Includes Myb-Binding Protein 1a

(2009) Heidi R. Fuller et al.   JOURNAL OF PROTEOME RESEARCH

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

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

(2009) Dirk Bäumer et al.   PLoS Genetics

Rare Missense and Synonymous Variants in UBE1 Are Associated with X-Linked Infantile Spinal Muscular Atrophy

(2008) Juliane Ramser et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Constitutive activation of the Wnt canonical pathway in mantle cell lymphoma

(2008) P. Gelebart et al.   BLOOD

SMN Deficiency Causes Tissue-Specific Perturbations in the Repertoire of snRNAs and Widespread Defects in Splicing

(2008) Zhenxi Zhang et al.   CELL

Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy

(2008) Shingo Kariya et al.   HUMAN MOLECULAR GENETICS

Regulation of SMN Protein Stability

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

Retrograde regulation of motoneuron differentiation by muscle β-catenin

(2008) Xiao-Ming Li et al.   NATURE NEUROSCIENCE

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

(2008) G. E. Oprea et al.   SCIENCE