Results 21 to 30 of about 840,189 (237)

Pharmacological c-Jun NH2-Terminal Kinase (JNK) Pathway Inhibition Reduces Severity of Spinal Muscular Atrophy Disease in Mice

Frontiers in Molecular Neuroscience, 2018
Spinal muscular atrophy (SMA) is a severe neurodegenerative disorder that occurs in early childhood. The disease is caused by the deletion/mutation of the survival motor neuron 1 (SMN1) gene resulting in progressive skeletal muscle atrophy and paralysis,
Roberta Schellino, Marina Boido, Marina Boido, Tiziana Borsello, Tiziana Borsello, Alessandro Vercelli, Alessandro Vercelli   +6 more
doaj   +1 more source

Spinal muscular atrophy patient iPSC-derived motor neurons have reduced expression of proteins important in neuronal development [PDF]

, 2016
This work was supported by The RJAH Institute of Orthopaedics, UK (H.F.), The SMA Trust, UK (H.F.), Cedars-Sinai Institutional startup funds (D.S), California Institute for Regenerative Medicine Grant RT-02040 (D.S.), National Center for Advancing ...
Heidi R. Fuller, Andrew R. Gross, Kaus, Anjoscha, Morris, Glen, Sareen, Dhruv, Glenn E. Morris, Fuller, H, Shirran, Sally Lorna, Catherine H. Botting, Shirran, SL, Botting, Catherine Helen, Dhruv Sareen, Mandefro, Berhan, Botting, CH, Gross, AR, Berhan Mandefro, Fuller, Heidi, Sally L. Shirran, Sareen, S, Morris, GE, Anjoscha S. Kaus, Gross, Andrew, Mandefro, B, Kaus, AS   +23 more
core   +1 more source

Serum creatine kinase and creatinine in adult spinal muscular atrophy under nusinersen treatment

Annals of Clinical and Translational Neurology, 2021
Objective To determine whether serum creatine kinase activity (CK) and serum creatinine concentration (Crn) are prognostic and predictive biomarkers for disease severity, disease progression, and nusinersen treatment effects in adult patients with 5q ...
Maren Freigang, Claudia D. Wurster, Tim Hagenacker, Benjamin Stolte, Markus Weiler, Christoph Kamm, Olivia Schreiber‐Katz, Alma Osmanovic, Susanne Petri, Alexander Kowski, Thomas Meyer, Jan C. Koch, Isabell Cordts, Marcus Deschauer, Paul Lingor, Elisa Aust, Daniel Petzold, Albert C. Ludolph, Björn Falkenburger, Andreas Hermann, René Günther   +20 more
doaj   +1 more source

Changes in intranuclear mobility of mature snRNPs provide a mechanism for splicing defects in spinal muscular atrophy [PDF]

, 2012
This work was funded by the Wellcome Trust (grant ID WT078810MA)It is becoming increasingly clear that defects in RNA metabolism can lead to disease. Spinal muscular atrophy (SMA), a leading genetic cause of infant mortality, results from insufficient ...
Clelland, Allyson Kara, Bales, Alexandra Beatrice Elizabeth, Sleeman, Judith Elizabeth   +2 more
core   +1 more source

Anesthetic management of a child with spinal muscular atrophy

Amrita Journal of Medicine, 2023
Spinal muscular atrophy (SMA) is a rare autosomal disorder associated with degeneration of motor neurons. Bulbar dysfunction predisposes to aspiration. We present the anesthetic management of a child with SMA managed with general anesthesia and abdominal
Dimple E Thomas, Geethu Sebastian, Joel Irimpan, Lakshmi Kumar   +3 more
doaj   +1 more source

Case Report: A case of spinal muscular atrophy with extensively drug-resistant Acinetobacter baumannii pneumonia treated with nebulization combined with intravenous polymyxin B: experience and a literature review

Frontiers in Cellular and Infection Microbiology, 2023
Spinal muscular atrophy (SMA) is a neurodegenerative disease that results in progressive and symmetric muscle weakness and atrophy of the proximal limbs and trunk due to degeneration of spinal alpha-motor neurons.
Bingqing Cao, Ling Cao
doaj   +1 more source

A Comprehensive 19F NMR Framework for Fragment‐Based Drug Discovery: The Validated Screening Library OpenFL600 and Efficient Affinity Ranking by CSAR

Angewandte Chemie, EarlyView.
NMR screening is a powerful method for hit detection in drug‐discovery. We designed and validated the OpenFL600 19F$^{19}{\rm F}$ NMR library to probe diverse targets, including RNA, GPCRs, kinases, and proteases. This library yields target‐specific ligands without generating promiscuous binders.
Simon H. Rüdisser, Gabriela Stadler, Giacomo Padroni, Daria Barbash, Marco M. Ruckstuhl, Nils Lorz, Christina Jordan, Sarah Skibinski, Timo T. Stühlinger, Sarah E. Kratzwald, Katharina M. Siess, Sven Brüschweiler, Gerald Platzer, Antoine Cléry, Robert Konrat, Frédéric H.‐.T. Allain, Alvar D. Gossert   +16 more
wiley   +2 more sources

Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA. [PDF]

PLoS ONE, 2016
PURPOSE:The mechanisms underlying the topography of motor deficits in spinal muscular atrophy (SMA) remain unknown. We investigated the profile of spinal cord atrophy (SCA) in SMN1-linked SMA, and its correlation with the topography of muscle weakness ...
Mohamed-Mounir El Mendili, Timothée Lenglet, Tanya Stojkovic, Anthony Behin, Raquel Guimarães-Costa, François Salachas, Vincent Meininger, Gaelle Bruneteau, Nadine Le Forestier, Pascal Laforêt, Stéphane Lehéricy, Habib Benali, Pierre-François Pradat   +12 more
doaj   +1 more source

Identifying epigenetic regulators of survival motor neuron protein to treat spinal muscular atrophy [PDF]

, 2022
Spinal muscular atrophy (SMA) is a rare monogenic disease of mostly paediatric onset, affecting approximately 1:8,000 – 10,000 live births. If untreated, it leads to progressive muscle weakness and paralysis, due to degeneration of lower α-motor neurons ...
Kordala, Anna
core   +1 more source

Mechanisms of disease pathogenesis in Spinal Muscular Atrophy [PDF]

, 2014
Low levels of survival motor neuron (SMN) protein cause the autosomal recessive neurodegenerative disease spinal muscular atrophy (SMA), through mechanisms that are poorly defined.
Mutsaers, Chantal
core   +3 more sources