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Article

Microtubule-associated protein 1B dysregulates microtubule dynamics and neuronal mitochondrial transport in spinal muscular atrophy.

Human molecular genetics - 25 Feb 2021

Bora Gamze, Hensel Niko, Rademacher Sebastian, Koyunoğlu Dila, Sunguroğlu Merve, Aksu-Mengeş Evrim, Balcı-Hayta Burcu, Claus Peter, Erdem-Yurter Hayat

Abstract excerpt

Spinal muscular atrophy (SMA) is a devastating childhood disease primarily affecting lower motoneurons in the spinal cord. SMA is caused by the loss of functional survival of motoneuron (SMN) protein, leading to structural and functional alterations of the cytoskeleton in motoneurons and other cells. Loss of SMN results in impairments of microtubule architecture, but the underlying mechanisms are not completely...

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PMID: 33410474
DOI: 10.1093/hmg/ddaa275

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