Výsledky vyhledávání - "María S. Castillo-Iglesias"

Reorganization of the nuclear compartments involved in transcription and RNA processing in myonuclei of type I spinal muscular atrophy

Autor: Miguel Lafarga, María S. Castillo-Iglesias, J. Fernando Val-Bernal, Olga Tapia, José C. Rodríguez-Rey, J. Oriol Narcis, Maria T. Berciano

Publikováno v: Histochemistry and Cell Biology. 152:227-237

Type I spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by the loss or mutation of the survival motor neuron 1 (SMN1) gene. The reduction in SMN protein levels in SMA leads to the degeneration of motor neurons and muscular atro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ac2be277664c23fe853dbc77e3e4208
https://doi.org/10.1007/s00418-019-01792-6

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Mislocalization of SMN from the I-band and M-band in human skeletal myofibers in spinal muscular atrophy associates with primary structural alterations of the sarcomere

Autor: Vanesa Lafarga, José C. Rodríguez-Rey, Maria T. Berciano, Olga Tapia, María S. Castillo-Iglesias, J. Fernando Val-Bernal, Miguel Lafarga

Publikováno v: Cell and tissue research. 381(3)

Spinal muscular atrophy (SMA) is caused by a deletion or mutation of the survival motor neuron 1 (SMN1) gene. Reduced SMN levels lead to motor neuron degeneration and muscular atrophy. SMN protein localizes to the cytoplasm and Cajal bodies. Moreover

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4786e3bae53acbc66e10abf23fb7adaf
https://pubmed.ncbi.nlm.nih.gov/32676861

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