La Atrofia Muscular Espinal (AME) es una enfermedad autosómica recesiva caracterizada por debilidad muscular y deterioro de la transmisión sináptica y pérdida de motoneuronas inferiores. La proteína SMN (Survival Motor Neuron) está codificada por dos genes: SMN1, que produce la proteína completa (SMN-FL), y SMN2, que mayoritariamente produce...
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May 9, 2016 (v1)PublicationUploaded on: March 25, 2023
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April 20, 2021 (v1)Publication
Low levels of the Survival Motor Neuron (SMN) protein produce Spinal Muscular Atrophy (SMA), a severe monogenetic disease in infants characterized by muscle weakness and impaired synaptic transmission. We report here severe structural and functional alterations in the organization of the organelles and the cytoskeleton of motor nerve terminals...
Uploaded on: December 4, 2022 -
February 27, 2015 (v1)Publication
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Uploaded on: March 27, 2023