Search Results - "Melissa Bowerman"
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Recent Advances and Future Perspectives in the Development of Therapeutic Approaches for Neurodegenerative Diseases
Published in Brain sciences (01-09-2020)“…Neurodegenerative diseases such as Alzheimer’s disease (AD), Parkinson’s disease (PD) and Huntington’s disease (HD), severely impact the function of neuronal…”
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Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy
Published in Proceedings of the National Academy of Sciences - PNAS (27-09-2016)“…The development of antisense oligonucleotide therapy is an important advance in the identification of corrective therapy for neuromuscular diseases, such as…”
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Fasudil improves survival and promotes skeletal muscle development in a mouse model of spinal muscular atrophy
Published in BMC medicine (07-03-2012)“…Spinal muscular atrophy (SMA) is the leading genetic cause of infant death. It is caused by mutations/deletions of the survival motor neuron 1 (SMN1) gene and…”
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Therapeutic strategies for spinal muscular atrophy: SMN and beyond
Published in Disease models & mechanisms (01-08-2017)“…Spinal muscular atrophy (SMA) is a devastating neuromuscular disorder characterized by loss of motor neurons and muscle atrophy, generally presenting in…”
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Spinal muscular atrophy: antisense oligonucleotide therapy opens the door to an integrated therapeutic landscape
Published in Human molecular genetics (01-10-2017)Get full text
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Differential effect of Fas activation on spinal muscular atrophy motoneuron death and induction of axonal growth
Published in Cellular and Molecular Biology (31-10-2023)Get full text
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The cross-linguistic categorization of everyday events: A study of cutting and breaking
Published in Cognition (01-11-2008)“…The cross-linguistic investigation of semantic categories has a long history, spanning many disciplines and covering many domains. But the extent to which…”
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Can language restructure cognition? The case for space
Published in Trends in cognitive sciences (01-03-2004)“…Frames of reference are coordinate systems used to compute and specify the location of objects with respect to other objects. These have long been thought of…”
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Abnormal fatty acid metabolism is a core component of spinal muscular atrophy
Published in Annals of clinical and translational neurology (01-08-2019)“…Objective Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder leading to paralysis and subsequent death in young children. Initially…”
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The Relationship between Body Composition, Fatty Acid Metabolism and Diet in Spinal Muscular Atrophy
Published in Brain sciences (20-01-2021)“…Spinal muscular atrophy (SMA) is an autosomal recessive condition that results in pathological deficiency of the survival motor neuron (SMN) protein. SMA most…”
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Targeting the 5′ untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy
Published in Molecular therapy. Nucleic acids (05-03-2021)“…Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by mutations in the survival motor neuron 1 (SMN1) gene. All patients have at least one copy…”
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Dysregulation of Tweak and Fn14 in skeletal muscle of spinal muscular atrophy mice
Published in Skeletal muscle (28-07-2022)“…Abstract Background Spinal muscular atrophy (SMA) is a childhood neuromuscular disorder caused by depletion of the survival motor neuron (SMN) protein. SMA is…”
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An Induced Pluripotent Stem Cell-Derived Human Blood–Brain Barrier (BBB) Model to Test the Crossing by Adeno-Associated Virus (AAV) Vectors and Antisense Oligonucleotides
Published in Biomedicines (04-10-2023)“…The blood–brain barrier (BBB) is the specialised microvasculature system that shields the central nervous system (CNS) from potentially toxic agents. Attempts…”
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KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects
Published in Neurobiology of disease (01-10-2017)“…Abstract Loss-of-function mutations in the potassium-chloride cotransporter KCC3 lead to Andermann syndrome, a severe sensorimotor neuropathy characterized by…”
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Interventions Targeting Glucocorticoid-Krüppel-like Factor 15-Branched-Chain Amino Acid Signaling Improve Disease Phenotypes in Spinal Muscular Atrophy Mice
Published in EBioMedicine (01-05-2018)“…The circadian glucocorticoid-Krüppel-like factor 15-branched-chain amino acid (GC-KLF15-BCAA) signaling pathway is a key regulatory axis in muscle, whose…”
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Combining multiomics and drug perturbation profiles to identify muscle-specific treatments for spinal muscular atrophy
Published in JCI insight (08-07-2021)“…Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by loss of survival motor neuron (SMN) protein. While SMN restoration therapies are…”
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Multi-Study Proteomic and Bioinformatic Identification of Molecular Overlap between Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophy (SMA)
Published in Brain sciences (04-12-2018)“…Unravelling the complex molecular pathways responsible for motor neuron degeneration in amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA)…”
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A Single Amino Acid Residue Regulates PTEN-Binding and Stability of the Spinal Muscular Atrophy Protein SMN
Published in Cells (Basel, Switzerland) (03-11-2020)“…Spinal Muscular Atrophy (SMA) is a neuromuscular disease caused by decreased levels of the survival of motoneuron (SMN) protein. Post-translational mechanisms…”
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Learning to express motion events in English and Korean: the influence of language-specific lexicalization patterns
Published in Cognition (01-12-1991)“…English and Korean differ in how they lexicalize the components of motion events. English characteristically conflates Motion with Manner, Cause, or Deixis,…”
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Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model
Published in Human molecular genetics (15-04-2010)“…Spinal muscular atrophy (SMA) is an inherited disease resulting in the highest mortality of children under the age of two. SMA is caused by mutations or…”
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