WDR79/TCAB1 plays a conserved role in the control of locomotion and ameliorates phenotypic defects in SMA models [PDF]
Neurobiology of Disease, 2017 SMN (Survival Motor Neuron) deficiency is the predominant cause of spinal muscular atrophy (SMA), a severe neurodegenerative disorder that can lead to progressive paralysis and death.
Maria Laura Di Giorgio +11 more
doaj +3 more sources
The fate of nitrogen from crop residues of broccoli, leek and sugar beet [PDF]
, 2010 Environmental concern has lead to legislation on fertilization to reduce nutrient losses to the environment. Reducing N input may be inadequate for crops that have a high N content in their residues. Reducing N input will negatively affect yield, but the
Berge, H.F.M., ten +2 more
core +9 more sources
Crystal structure of (N^C) cyclometalated AuIII diazide at 100 K
Acta Crystallographica Section E: Crystallographic Communications, 2020 The title compound, an (N^C)-cyclometalated gold(III) diazide, namely, diazido[5-ethoxycarbonyl-2-(5-ethoxycarbonylpyridin-2-yl)phenyl-κ2C1,N]gold(III), [Au(C17H16NO4)(N3)2] or Au(ppyEt)(N3)2, was synthesized by reacting Au(ppyEt)Cl2 with NaN3 in water ...
Volodymyr Levchenko +3 more
doaj +1 more source
Molecular determinants of survival motor neuron (SMN) protein cleavage by the calcium-activated protease, calpain. [PDF]
PLoS ONE, 2010 Spinal muscular atrophy (SMA) is a leading genetic cause of childhood mortality, caused by reduced levels of survival motor neuron (SMN) protein. SMN functions as part of a large complex in the biogenesis of small nuclear ribonucleoproteins (snRNPs).
Jennifer L Fuentes +2 more
doaj +1 more source
A new biomarker candidate for spinal muscular atrophy: Identification of a peripheral blood cell population capable of monitoring the level of survival motor neuron protein. [PDF]
PLoS ONE, 2018 Spinal muscular atrophy (SMA) is a severe genetic neuromuscular disorder caused by insufficiency of functional survival motor neuron (SMN) protein. Several clinical trials have been conducted with the aim of upregulating the expression of the SMN protein
Noriko Otsuki +5 more
doaj +1 more source
Utility of survival motor neuron ELISA for spinal muscular atrophy clinical and preclinical analyses. [PDF]
PLoS ONE, 2011 Genetic defects leading to the reduction of the survival motor neuron protein (SMN) are a causal factor for Spinal Muscular Atrophy (SMA). While there are a number of therapies under evaluation as potential treatments for SMA, there is a critical lack of
Dione T Kobayashi +9 more
doaj +1 more source
Fine-Tuning of mTOR mRNA and Nucleolin Complexes by SMN
Cells, 2021 Increasing evidence points to the Survival Motor Neuron (SMN) protein as a key determinant of translation pathway. Besides its role in RNA processing and sorting, several works support a critical implication of SMN in ribosome biogenesis.
Francesca Gabanella +9 more
doaj +1 more source
Regulation of SMN Protein Stability [PDF]
Molecular and Cellular Biology, 2009 Spinal muscular atrophy (SMA) is caused by mutations of the survival of motor neuron (SMN1) gene and deficiency of full-length SMN protein (FL-SMN). All SMA patients retain one or more copies of the SMN2 gene, but the principal protein product of SMN2 lacks exon 7 (SMNDelta7) and is unable to compensate for a deficiency of FL-SMN.
Barrington G, Burnett +5 more
openaire +2 more sources
Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy [PDF]
, 2016 Spinal muscular atrophy (SMA) is a neuromuscular disease caused by low levels of SMN protein, primarily affecting lower motor neurons. Recent evidence from SMA and related conditions suggests that glial cells can influence disease severity.
Brophy, Peter J. +9 more
core +3 more sources
Brazilian Journal of Radiation Sciences, 2018 Iodine-131 (131I) has been used for diagnosis and therapy in Nuclear Medicine Centers in Brazil for more than 50 years. The present study aims to investigate the impact of the counts density and the reconstruction parameters in the calibration factor ...
Samira Marques Carvalho +4 more
doaj +1 more source