Výsledky vyhledávání - "Eileen Workman"

Intragenic complementation of amino and carboxy terminal SMN missense mutations can rescue Smn null mice

Autor: Aurélie Massoni-Laporte, Kaitlyn M Kray, Daniel J. Battle, Eileen Workman, Vicki L. McGovern, Arthur H.M. Burghes, W. David Arnold, Sandra I Duque, Chitra C. Iyer, Aalapi Patel

Publikováno v: Hum Mol Genet

Spinal muscular atrophy is caused by reduced levels of SMN resulting from the loss of SMN1 and reliance on SMN2 for the production of SMN. Loss of SMN entirely is embryonic lethal in mammals. There are several SMN missense mutations found in humans.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3cf3d2609fc8ef875eaf6cba8f65947
https://doi.org/10.1093/hmg/ddaa235

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Gain of toxic function by long-term AAV9-mediated SMN overexpression in the sensorimotor circuit

Autor: Ivan Tattoli, Meaghan Van Alstyne, Lamya S. Shihabuddin, Chaolin Zhang, Nicolas Delestrée, Yocelyn Recinos, Livio Pellizzoni, George Z. Mentis, Eileen Workman

Publikováno v: Nature neuroscience. 24(7)

The neurodegenerative disease spinal muscular atrophy (SMA) is caused by deficiency in the survival motor neuron (SMN) protein. Currently approved SMA treatments aim to restore SMN, but the potential for SMN expression beyond physiological levels is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd00f6bc6af2d891a8ed825422c78924
https://pubmed.ncbi.nlm.nih.gov/35656408

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Protective effects of butyrate-based compounds on a mouse model for spinal muscular atrophy

Autor: Matthew E.R. Butchbach, Livio Pellizzoni, Luciano Saieva, Jonathan D. Edwards, Casey J. Lumpkin, Eileen Workman, Arthur H. M. Burghes, Louise R. Simard, Ashlee W. Harris

Publikováno v: Experimental Neurology. 279:13-26

Proximal spinal muscular atrophy (SMA) is a childhood-onset degenerative disease resulting from the selective loss of motor neurons in the spinal cord. SMA is caused by the loss of SMN1 (survival motor neuron 1) but retention of SMN2. The number of c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f6648b26d381d0d124b0ecc21485653
https://doi.org/10.1016/j.expneurol.2016.02.009

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Gemin5 Binds to the Survival Motor Neuron mRNA to Regulate SMN Expression

Autor: Aalapi Patel, Eileen Workman, Daniel J. Battle, Caitlin Kalda

Publikováno v: Journal of Biological Chemistry. 290:15662-15669

Reduced expression of SMN causes spinal muscular atrophy, a severe neurodegenerative disease. Despite the importance of maintaining SMN levels, relatively little is known about the mechanisms by which SMN levels are regulated. We show here that Gemin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10dca935642b59cdb76ecaef0b65ce3a
https://doi.org/10.1074/jbc.m115.646257

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Spinal Muscular Atrophy Biomarker Measurements from Blood Samples in a Clinical Trial of Valproic Acid in Ambulatory Adults

Autor: Mark R. Parthun, Thomas W. Prior, John T. Kissel, Michael A. Freitas, Daniel J. Battle, Bakri Elsheikh, Louise R. Simard, Allison M. Wehr, Hongyang Pi, Stephen J. Kolb, Samantha R. Renusch, Kathryn J. Swoboda, Sean W. Harshman, Eileen Workman, Xiaobai Li

Publikováno v: Journal of Neuromuscular Diseases

Background: Clinical trials of therapies for spinal muscular atrophy (SMA) that are designed to increase the expression the SMN protein ideally include careful assessment of relevant SMN biomarkers. Objective: In the SMA VALIANT trial, a recent doubl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1efd99a028aee58d7e44a03d875c1241
http://europepmc.org/articles/PMC5271431

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U1A Regulates 3′ Processing of the Survival Motor Neuron mRNA

Autor: Daniel J. Battle, Eileen Workman, Alex Veith

Publikováno v: Journal of Biological Chemistry. 289:3703-3712

Insufficient expression of the survival motor neuron (SMN) protein causes spinal muscular atrophy, a neurodegenerative disease characterized by loss of motor neurons. Despite the importance of maintaining adequate SMN levels, little is known about fa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90b8ce2fb111265b093c4e7ae665673a
https://doi.org/10.1074/jbc.m113.538264

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Survival Motor Neuron Function in Motor Axons Is Independent of Functions Required for Small Nuclear Ribonucleoprotein Biogenesis

Autor: Arthur H.M. Burghes, Michelle L. McWhorter, Elizabeth C. Wolstencroft, Christine E. Beattie, Tessa L. Carrel, Christian L. Lorson, Gary J. Bassell, Eileen Workman, Honglai Zhang

Publikováno v: The Journal of Neuroscience. 26:11014-11022

Spinal muscular atrophy (SMA) is a motor neuron degenerative disease caused by low levels of the survival motor neuron (SMN) protein and is linked to mutations or loss ofSMN1and retention ofSMN2. How low levels of SMN cause SMA is unclear. SMN functi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa30f144a88035436109f0750818ba6a
https://doi.org/10.1523/jneurosci.1637-06.2006

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Spliceosomal small nuclear ribonucleoprotein biogenesis defects and motor neuron selectivity in spinal muscular atrophy

Autor: Eileen Workman, Stephen J. Kolb, Daniel J. Battle

Publikováno v: Brain research. 1462

The SMN protein is essential and participates in the assembly of macromolecular complexes of RNA and protein in all cells. The best-characterized function of SMN is as an assembler of spliceosomal small nuclear ribonucleoproteins (snRNPs). SMN perfor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b1d8a1eaca0acee3701701ec7d4f18d
https://pubmed.ncbi.nlm.nih.gov/22424789

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A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice

Autor: Don Liu, Tessa L. Carrel, Thomas O. Crawford, Christine E. Beattie, Livio Pellizzoni, Cathleen M. Lutz, Arthur H.M. Burghes, Eileen Workman, Luciano Saieva

Publikováno v: Human molecular genetics. 18(12)

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease. Loss of the survival motor neuron (SMN1) gene, in the presence of the SMN2 gene causes SMA. SMN functions in snRNP assembly in all cell types, however, it is unclear h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74b2e42ffeda94090de2fa11e460f48c
https://pubmed.ncbi.nlm.nih.gov/19329542

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Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect

Autor: Thomas O. Crawford, Rocky G. Gogliotti, Arthur H.M. Burghes, Vicki L. McGovern, Tatiana O. Gavrilina, Christine J. DiDonato, Glenn E. Morris, Umrao R. Monani, Eileen Workman

Publikováno v: Human molecular genetics. 17(8)

Spinal muscular atrophy (SMA) is caused by loss of the survival motor neuron gene (SMN1) and retention of the SMN2 gene. The copy number of SMN2 affects the amount of SMN protein produced and the severity of the SMA phenotype. While loss of mouse Smn

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56b45a9ce8c9009dff9ef86df32eb123
https://pubmed.ncbi.nlm.nih.gov/18178576

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