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SMN Deficiency Induces an Early Non-Atrophic Myopathy with Alterations in the Contractile and Excitatory Coupling Machinery of Skeletal Myofibers in the SMN∆7 Mouse Model of Spinal Muscular Atrophy.
Int J Mol Sci
November 2024
Department of Basic Medical Sciences, Institute of Biomedical Technologies (ITB), Universidad de La Laguna, 38200 San Cristobal de la Laguna, Spain.
Spinal muscular atrophy (SMA) is caused by a deficiency of the ubiquitously expressed survival motor neuron (SMN) protein. The main pathological hallmark of SMA is the degeneration of lower motor neurons (MNs) with subsequent denervation and atrophy of skeletal muscle. However, increasing evidence indicates that low SMN levels not only are detrimental to the central nervous system (CNS) but also directly affect other peripheral tissues and organs, including skeletal muscle.
View Article and Find Full Text PDFConcomitant telomere attrition is associated with spinal muscular atrophy in highly inbred region of North India: unraveling the thread in Kashmir region.
BMC Med Genomics
November 2024
Advanced Centre for Human Genetics, Sher.i. Kashmir Institute of Medical Sciences, Soura, Jammu, Kashmir, India.
Spinal muscular atrophy (SMA) is a rare genetic disorder that unequivocally results in the degeneration of motor neurons, leading to muscle weakness and atrophy. This condition is caused by a mutation in the survival motor neuron 1 (SMN1) gene, which inevitably results in a deficiency of the SMN protein. In present study, we investigated the potential role of telomere attrition in SMA patients.
View Article and Find Full Text PDFComparative meta-analysis of transcriptomic studies in spinal muscular atrophy: comparison between tissues and mouse models.
BMC Med Genomics
November 2024
Institute for Animal Genomics, University of Veterinary Medicine, Foundation, Buenteweg 17P, Hannover, D-30539, Germany.
Background: Spinal Muscular Atrophy (SMA), a neuromuscular disorder that leads to weakness in the muscles due to degeneration of motor neurons. Mutations in the survival motor neuron 1 (SMN1) gene leads to the deficiency of SMN protein that causes SMA. The molecular alterations associated with SMA extends across the transcriptome and proteome.
View Article and Find Full Text PDFDysregulated balance of D- and L-amino acids modulating glutamatergic neurotransmission in severe spinal muscular atrophy.
bioRxiv
October 2024
Laboratory of Translational Neuroscience, Ceinge Biotecnologie Avanzate, 80145, Naples, Italy.
Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by reduced expression of the survival motor neuron (SMN) protein. In addition to motor neuron survival, SMN deficiency affects the integrity and function of afferent synapses that provide glutamatergic excitatory drive essential for motor neuron firing and muscle contraction. However, it is unknown whether deficits in the metabolism of excitatory amino acids and their precursors contribute to neuronal dysfunction in SMA.
View Article and Find Full Text PDFExsolution of Ni nanoparticles in A-site excess STO films.
Nanoscale Adv
October 2024
Centre for Materials Science and Nanotechnology, Department of Chemistry, University of Oslo Gaustadalléen 21 NO-0349 Oslo Norway
Exsolution is a technique to create metal nanoparticles embedded within a matrix. The phenomenon has previously predominantly been studied in A-site deficient and stoichiometric perovskite powders. Here, we present a systematic study of an A-site excess perovskite oxide based on SrTiO thin films, doped with nickel and exsolved under different conditions.
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