Spinal Muscular Atrophy Patient iPSC-Derived Motor Neurons Have Reduced Expression of Proteins Important in Neuronal Development

Molecular mechanisms and animal models of spinal muscular atrophy

(2015) Brittany M. Edens et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Corticospinal Motor Neurons Are Susceptible to Increased ER Stress and Display Profound Degeneration in the Absence of UCHL1 Function

(2015) Javier H. Jara et al.   CEREBRAL CORTEX

Stathmin is enriched in the developing corticospinal tract

(2015) Heidi R. Fuller et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Spinal Muscular Atrophy Therapeutics: Where do we Stand?

(2015) Constantin d’Ydewalle et al.   Neurotherapeutics

Decay in survival motor neuron and plastin 3 levels during differentiation of iPSC-derived human motor neurons

(2015) María G Boza-Morán et al.   Scientific Reports

Modeling the Early Phenotype at the Neuromuscular Junction of Spinal Muscular Atrophy Using Patient-Derived iPSCs

(2015) Michiko Yoshida et al.   Stem Cell Reports

Modeling ALS with iPSCs Reveals that Mutant SOD1 Misregulates Neurofilament Balance in Motor Neurons

(2014) Hong Chen et al.   Cell Stem Cell

The role of targeted protein degradation in early neural development

(2014) Banu Saritas-Yildirim et al.   GENESIS

Motoneuron development influences dorsal root ganglia survival and Schwann cell development in a vertebrate model of spinal muscular atrophy

(2014) Le Thi Hao 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

Human induced pluripotent stem cells are a novel source of neural progenitor cells (iNPCs) that migrate and integrate in the rodent spinal cord

(2014) Dhruv Sareen et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Label-Free Quantitative Proteomic Profiling Identifies Disruption of Ubiquitin Homeostasis As a Key Driver of Schwann Cell Defects in Spinal Muscular Atrophy

(2014) Arwin Aghamaleky Sarvestany et al.   JOURNAL OF PROTEOME RESEARCH

Quantitative Proteomic Analysis Identifies Targets and Pathways of a 2-Aminobenzamide HDAC Inhibitor in Friedreich’s Ataxia Patient iPSC-Derived Neural Stem Cells

(2014) Bing Shan et al.   JOURNAL OF PROTEOME RESEARCH

Deep Proteomic Evaluation of Primary and Cell Line Motoneuron Disease Models Delineates Major Differences in Neuronal Characteristics

(2014) Daniel Hornburg et al.   MOLECULAR & CELLULAR PROTEOMICS

Increased levels of UCHL1 are a compensatory response to disrupted ubiquitin homeostasis in spinal muscular atrophy and do not represent a viable therapeutic target

(2014) Rachael A. Powis et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Reliable Generation of Induced Pluripotent Stem Cells From Human Lymphoblastoid Cell Lines

(2014) Robert Barrett et al.   Stem Cells Translational Medicine

Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene

(2013) Nomazulu Dlamini et al.   NEUROMUSCULAR DISORDERS

RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention

(2013) Christopher J. Donnelly et al.   NEURON

Total Protein Analysis as a Reliable Loading Control for Quantitative Fluorescent Western Blotting

(2013) Samantha L. Eaton et al.   PLoS One

Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration

(2013) Kaya Bilguvar et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Targeting RNA Foci in iPSC-Derived Motor Neurons from ALS Patients with a C9ORF72 Repeat Expansion

(2013) D. Sareen et al.   Science Translational Medicine

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

Breaking It Down: The Ubiquitin Proteasome System in Neuronal Morphogenesis

(2013) Andrew M. Hamilton et al.   NEURAL PLASTICITY

Inhibition of Apoptosis Blocks Human Motor Neuron Cell Death in a Stem Cell Model of Spinal Muscular Atrophy

(2012) Dhruv Sareen et al.   PLoS One

Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability

(2012) B. Bilican et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic Correction of Human Induced Pluripotent Stem Cells from Patients with Spinal Muscular Atrophy

(2012) S. Corti et al.   Science Translational Medicine

Spinal muscular atrophy: going beyond the motor neuron

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

The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy

(2011) J. N. Sleigh et al.   Disease Models & Mechanisms

Brief Report: Phenotypic Rescue of Induced Pluripotent Stem Cell-Derived Motoneurons of a Spinal Muscular Atrophy Patient

(2011) Tammy Chang et al.   STEM CELLS

Survival Motor Neuron Protein Regulates Stem Cell Division, Proliferation, and Differentiation in Drosophila

(2011) Stuart J. Grice et al.   PLoS Genetics

Stem Cell Model of Spinal Muscular Atrophy

(2010) Allison D. Ebert et al.   ARCHIVES OF NEUROLOGY

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

Valproate and Bone Loss: iTRAQ Proteomics Show that Valproate Reduces Collagens and Osteonectin in SMA Cells

(2010) Heidi R. Fuller et al.   JOURNAL OF PROTEOME RESEARCH

Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN

(2010) Kevin D Foust et al.   NATURE BIOTECHNOLOGY

Ubiquitin carboxyl-terminal hydrolase L1 is required for maintaining the structure and function of the neuromuscular junction

(2010) F. Chen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy

(2009) Lyndsay M. Murray et al.   HUMAN MOLECULAR GENETICS

Highly efficient neural conversion of human ES and iPS cells by dual inhibition of SMAD signaling

(2009) Stuart M Chambers et al.   NATURE BIOTECHNOLOGY

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

(2009) Da Wei Huang et al.   Nature Protocols

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

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

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

(2008) Shingo Kariya et al.   HUMAN MOLECULAR GENETICS

Neurodevelopmental abnormalities in neurosphere-derived neural stem cells from SMN-depleted mice

(2008) Dina Shafey et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Analyzing real-time PCR data by the comparative CT method

(2008) Thomas D Schmittgen et al.   Nature Protocols

Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists

(2008) Da Wei Huang et al.   NUCLEIC ACIDS RESEARCH