Výsledky vyhledávání - "Survival of Motor Neuron (SMN)"

Akademický článek

Colorimetric Assay for Exon 7 SMN1/SMN2 Single Nucleotide Polymorphism Using Gold Nanoprobes

Autor: Hossein Ahmadpour-Yazdi, Mohammad Reza Hormozi-Nezhad, Ali Reza Abadi, Mohammad Hossein Sanati, Bahram Kazemi

Publikováno v: BioImpacts, Vol 3, Iss 4, Pp 185-194 (2013)

Introduction: Proximal spinal muscular atrophy (SMA) is one of the most significant neurodegenerative diseases amongst the autosomal-recessive genetic disorders which is caused by the absence of protein survival of motor neuron (SMN). A critical nucl

Externí odkaz: https://doaj.org/article/9457d048d7944bcb8c13ece7e5cac9a0

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The intriguing case of motor neuron disease: ALS and SMA come closer

Autor: Tilmann Achsel, Mauro Cozzolino, Maria Teresa Carrì, Silvia M.L. Barabino

Publikováno v: Biochemical Society transactions 41 (2013): 1593–1597. doi:10.1042/BST20130142
info:cnr-pdr/source/autori:Achsel, Tilmann; Barabino, Silvia M L; Cozzolino, Mauro; Carr, Maria Teresa/titolo:The intriguing case of motor neuron disease: ALS and SMA come closer/doi:10.1042%2FBST20130142/rivista:Biochemical Society transactions/anno:2013/pagina_da:1593/pagina_a:1597/intervallo_pagine:1593–1597/volume:41

MNDs (motor neuron diseases) form a heterogeneous group of pathologies characterized by the progressive degeneration of motor neurons. More and more genetic factors associated with MND encode proteins that have a function in RNA metabolism, suggestin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::284d4b594bd660c1527df93645ad79de
https://doi.org/10.1042/bst20130142

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Solution structure of the core SMN–Gemin2 complex

Autor: Kathleen G. Valentine, Cecilia Tommos, Veronica R. Moorman, Kathryn L. Sarachan, A. Joshua Wand, John M. Gledhill, Kushol Gupta, Matthew Bernens, Gregory D. Van Duyne

Publikováno v: Biochemical Journal

In humans, assembly of spliceosomal snRNPs (small nuclear ribonucleoproteins) begins in the cytoplasm where the multi-protein SMN (survival of motor neuron) complex mediates the formation of a seven-membered ring of Sm proteins on to a conserved site

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e7eeb4f6fca3bebbdbf4822a1e83388
https://doi.org/10.1042/bj20120241

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Determinación del splicing de mini-genes SMN humanos en Drosophila melanogaster

Autor: Selma Soriano, Estela

Publikováno v: RiuNet. Repositorio Institucional de la Universitat Politécnica de Valéncia
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[EN] Spinal muscular atrophy (SMA) is a human disease characterized by motor neuron dysfunction and muscle deterioration due to reduced levels of the “Survival of Motor Neuron” (SMN) protein. Two paralogous genes, SMN1 and SMN2, encode this prote

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::9aa5963c8220153deed928d2702d7dab
http://hdl.handle.net/10251/75345

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