Pathogenesis of proximal autosomal recessive spinal muscular atrophy [PDF]
, 2008 Although it is known that deletions or mutations of the SMN1 gene on chromosome 5 cause decreased levels of the SMN protein in subjects with proximal autosomal recessive spinal muscular atrophy (SMA), the exact sequence of pathological events leading to ...
Šimić, Goran
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Potential of activated microglia as a source of dysregulated extracellular microRNAs contributing to neurodegeneration in amyotrophic lateral sclerosis [PDF]
, 2020 Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron degeneration in adults, and several mechanisms underlying the disease pathology have been proposed.
Christoforidou, Eleni +2 more
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Review: Evidence-based drug treatment in amyotrophic lateral sclerosis and upcoming clinical trials
Therapeutic Advances in Neurological Disorders, 2009 Amyotrophic lateral sclerosis/motor neuron disease is a severe neurodegenerative disease characterized by upper and lower motor neuron degeneration for which there is no truly effective treatment.
Albert C. Ludolph, Sarah Jesse
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BMP4 is a peripherally-derived factor for motor neurons and attenuates glutamate-induced excitotoxicity in vitro. [PDF]
PLoS ONE, 2013 Bone morphogenetic proteins (BMPs), members of the transforming growth factor-beta (TGF-β) superfamily, have been shown to play important roles in the nervous system, including neuronal survival and synaptogenesis. However, the physiological functions of
Hui-Ju Chou +5 more
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Single copy/knock-in models of ALS SOD1 in C. elegans suggest loss and gain of function have different contributions to cholinergic and glutamatergic neurodegeneration [PDF]
, 2018 Mutations in Cu/Zn superoxide dismutase 1 (SOD1) lead to Amyotrophic Lateral Sclerosis (ALS), a neurodegenerative disease that disproportionately affects glutamatergic and cholinergic motor neurons.
Baskoylu, Saba N +10 more
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Frontiers in Neuroscience, 2012 Diversification of mammalian spinal motor neurons into hundreds of subtypes is critical for the maintenance of body posture and coordination of complex movements.
Jun-An eChen +2 more
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Selective vulnerability of spinal and cortical motor neuron subpopulations in delta7 SMA mice. [PDF]
PLoS ONE, 2013 Loss of the survival motor neuron gene (SMN1) is responsible for spinal muscular atrophy (SMA), the most common inherited cause of infant mortality. Even though the SMA phenotype is traditionally considered as related to spinal motor neuron loss, it ...
Paolo d'Errico +9 more
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SMN deficiency in severe models of spinal muscular atrophy causes widespread intron retention and DNA damage [PDF]
, 2017 Spinal muscular atrophy (SMA), an autosomal recessive neuromuscular disease, is the leading monogenic cause of infant mortality. Homozygous loss of the gene survival of motor neuron 1 (SMN1) causes the selective degeneration of lower motor neurons and ...
Allaire, N. +12 more
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The survival motor neuron protein in spinal muscular atrophy [PDF]
Human Molecular Genetics, 1997 The 38 kDa survival motor neuron (SMN) protein is encoded by two ubiquitously expressed genes: telomeric SMN (SMN(T)) and centromeric SMN (SMN(C)). Mutations in SMN(T), but not SMN(C), cause proximal spinal muscular atrophy (SMA), an autosomal recessive disorder that results in loss of motor neurons. SMN is found in the cytoplasm and nucleus.
D D, Coovert +9 more
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The survival motor neuron protein of Schizosacharomyces pombe. Conservation of survival motor neuron interaction domains in divergent organisms. [PDF]
The Journal of biological chemistry, 2000 Spinal muscular atrophy is a common often lethal neurodegenerative disease resulting from deletions or mutations in the survival motor neuron gene (SMN). SMN is ubiquitously expressed in metazoan cells and plays a role in small nuclear ribonucleoprotein assembly and pre-mRNA splicing. Here we characterize the Schizosacharomyces pombe orthologue of SMN (
S, Paushkin +5 more
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