Results 11 to 20 of about 213,623 (266)
Converging Mechanisms of p53 Activation Drive Motor Neuron Degeneration in Spinal Muscular Atrophy
Cell Reports, 2017 The hallmark of spinal muscular atrophy (SMA), an inherited disease caused by ubiquitous deficiency in the SMN protein, is the selective degeneration of subsets of spinal motor neurons.
Christian M. Simon +10 more
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The era of cryptic exons: implications for ALS-FTD
Molecular Neurodegeneration, 2023 TDP-43 is an RNA-binding protein with a crucial nuclear role in splicing, and mislocalises from the nucleus to the cytoplasm in a range of neurodegenerative disorders.
Puja R. Mehta +3 more
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Postgraduate Medical Journal, 2002 Abstract Motor neurone disease (MND), or amyotrophic lateral sclerosis (ALS), is a neurodegenerative disorder of unknown aetiology. Progressive motor weakness and bulbar dysfunction lead to premature death, usually from respiratory failure. Confirming the diagnosis may initially be difficult until the full clinical features are manifest.
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Cell Reports, 2016 In spinal muscular atrophy, a neurodegenerative disease caused by ubiquitous deficiency in the survival motor neuron (SMN) protein, sensory-motor synaptic dysfunction and increased excitability precede motor neuron (MN) loss.
Christian M. Simon +5 more
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Postgraduate Medical Journal, 1962 THE story of motor neurone disease goes back more than a hundred years, to the latter half of the igth century, and the days of the great clinical neurologists of France. Of the many famous names linked to this story three are pre-eminent: Charcot-physician and neuropathologist, and great teacher, who became even more renowned for his studies of ...
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Cells, 2021 Spinocerebellar ataxia type 3 (SCA3) is a hereditary ataxia caused by inheritance of a mutated form of the human ATXN3 gene containing an expanded CAG repeat region, encoding a human ataxin-3 protein with a long polyglutamine (polyQ) repeat region ...
Katherine J. Robinson +4 more
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Frontiers in Molecular Neuroscience, 2021 The past decade has seen a rapid acceleration in the discovery of new genetic causes of ALS, with more than 20 putative ALS-causing genes now cited. These genes encode proteins that cover a diverse range of molecular functions, including free radical ...
Flora Cheng +28 more
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Neurobiology of Disease, 2022 Investigations into the pathogenetic mechanisms underlying amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) have provided significant insight into the disease.
Jennilee M. Davidson +2 more
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BMJ, 1996 In patients with motor neurone disease, progressively worsening breathlessness often coincides with deteriorating bulbar function, and this combination may lead to difficulties in swallowing and coughing and a risk of aspiration. Occasionally, chest infections cause life threatening respiratory failure.
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Redox Biology, 2018 Generation of reactive oxygen species (ROS) has been shown to be important for many physiological processes, ranging from cell differentiation to apoptosis. With the development of the genetically encoded photosensitiser KillerRed (KR) it is now possible
Isabel Formella +8 more
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