Chapter title |
RNP Assembly Defects in Spinal Muscular Atrophy
|
---|---|
Chapter number | 6 |
Book title |
RNA Metabolism in Neurodegenerative Diseases
|
Published in |
Advances in neurobiology, January 2018
|
DOI | 10.1007/978-3-319-89689-2_6 |
Pubmed ID | |
Book ISBNs |
978-3-31-989688-5, 978-3-31-989689-2
|
Authors |
Phillip L. Price, Dmytro Morderer, Wilfried Rossoll, Price, Phillip L., Morderer, Dmytro, Rossoll, Wilfried |
Abstract |
Spinal muscular atrophy (SMA) is a motor neuron disease caused by mutations/deletions within the survival of motor neuron 1 (SMN1) gene that lead to a pathological reduction of SMN protein levels. SMN is part of a multiprotein complex, functioning as a molecular chaperone that facilitates the assembly of spliceosomal small nuclear ribonucleoproteins (snRNP). In addition to its role in spliceosome formation, SMN has also been found to interact with mRNA-binding proteins (mRBPs), and facilitate their assembly into mRNP transport granules. The association of protein and RNA in RNP complexes plays an important role in an extensive and diverse set of cellular processes that regulate neuronal growth, differentiation, and the maturation and plasticity of synapses. This review discusses the role of SMN in RNP assembly and localization, focusing on molecular defects that affect mRNA processing and may contribute to SMA pathology. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 28 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 9 | 32% |
Researcher | 5 | 18% |
Other | 1 | 4% |
Professor | 1 | 4% |
Student > Bachelor | 1 | 4% |
Other | 2 | 7% |
Unknown | 9 | 32% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 6 | 21% |
Agricultural and Biological Sciences | 3 | 11% |
Neuroscience | 3 | 11% |
Medicine and Dentistry | 3 | 11% |
Computer Science | 2 | 7% |
Other | 2 | 7% |
Unknown | 9 | 32% |