Results 31 to 40 of about 73,134 (225)

Targeting SR proteins improves SMN expression in spinal muscular atrophy cells. [PDF]

PLoS ONE, 2014
Spinal muscular atrophy (SMA) is one of the most common inherited causes of pediatric mortality. SMA is caused by deletions or mutations in the survival of motor neuron 1 (SMN1) gene, which results in SMN protein deficiency.
Claribel D Wee, Mallory A Havens, Francine M Jodelka, Michelle L Hastings   +3 more
doaj   +1 more source

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source

The Small-Molecule Flunarizine in Spinal Muscular Atrophy Patient Fibroblasts Impacts on the Gemin Components of the SMN Complex and TDP43, an RNA-Binding Protein Relevant to Motor Neuron Diseases

Frontiers in Molecular Biosciences, 2020
The motor neurodegenerative disease spinal muscular atrophy (SMA) is caused by alterations of the survival motor neuron 1 (SMN1) gene involved in RNA metabolism.
Delphine Sapaly, Perrine Delers, Jennifer Coridon, Badih Salman, Franck Letourneur, Florent Dumont, Suzie Lefebvre   +6 more
doaj   +1 more source

Diversity and complexity in neural organoids

FEBS Letters, EarlyView.
Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley   +1 more source

ATH-1105, a small-molecule positive modulator of the neurotrophic HGF system, is neuroprotective, preserves neuromotor function, and extends survival in preclinical models of ALS

Frontiers in Neuroscience
IntroductionAmyotrophic lateral sclerosis (ALS), a progressive and fatal neurodegenerative disorder, primarily affects the motor neurons of the brain and spinal cord.
Andrée-Anne Berthiaume, Sherif M. Reda, Kayla N. Kleist, Sharay E. Setti, Wei Wu, Jewel L. Johnston, Robert W. Taylor, Liana R. Stein, Hans J. Moebius, Kevin J. Church   +9 more
doaj   +1 more source

ZPR1-Dependent Neurodegeneration Is Mediated by the JNK Signaling Pathway

Journal of Experimental Neuroscience, 2019
The zinc finger protein ZPR1 deficiency causes neurodegeneration and results in a mild spinal muscular atrophy (SMA)-like disease in mice with reduced Zpr1 gene dosage. Mutation of the survival motor neuron 1 ( SMN1 ) gene causes SMA.
Xiaoting Jiang, Annapoorna Kannan, Laxman Gangwani   +2 more
doaj   +1 more source

Does the survival motor neuron copy number variation play a role in the onset and severity of sporadic amyotrophic lateral sclerosis in Malians?

eNeurologicalSci, 2016
Introduction: Spinal muscular atrophy (SMA) and sporadic amyotrophic lateral sclerosis (SALS) are both motor neuron disorders. SMA results from the deletion of the survival motor neuron (SMN) 1 gene.
Modibo Sangare, Ilo Dicko, Cheick Oumar Guinto, Adama Sissoko, Kekouta Dembele, Youlouza Coulibaly, Siaka Y. Coulibaly, Guida Landoure, Abdallah Diallo, Mamadou Dolo, Housseini Dolo, Boubacar Maiga, Moussa Traore, Mamadou Karembe, Kadiatou Traore, Amadou Toure, Mariam Sylla, Arouna Togora, Souleymane Coulibaly, Sékou Fantamady Traore, Brant Hendrickson, Katherine Bricceno, Alice B. Schindler, Angela Kokkinis, Katherine G. Meilleur, Hammadoun Ali Sangho, Brehima Diakite, Yaya Kassogue, Yaya Ibrahim Coulibaly, Barrington Burnett, Youssoufa Maiga, Seydou Doumbia, Kenneth H. Fischbeck   +32 more
doaj   +1 more source

Microbiome−host proteostasis crosstalk—An emerging perspective on mechanisms and interventions toward healthy longevity

FEBS Letters, EarlyView.
Proteostasis and the gut microbiota play a key role in shaping host physiology. Microbiota‐derived metabolites, vitamins, and RNA modulate host proteostasis. Findings from model systems, including C. elegans, indicate microbes can either stabilize or disrupt host proteostasis.
Abhishek Anil Dubey, Maria Ermolaeva
wiley   +1 more source

PARK(ing) time–How park deficiency affects the biological clock in a Drosophila model of Parkinson's disease

FEBS Letters, EarlyView.
Drosophila park mutants serve as a model for Parkinson's disease. We used this strain to investigate the connection between oxidative stress and the circadian clock mechanism. We showed that increased oxidative stress affects the physiology of pacemaker cells, disrupting their daily structural plasticity. Lack of rhythmic signaling from pacemaker cells
Kamila Zientara, Kinga Skoczek, Elzbieta Pyza, Milena Damulewicz   +3 more
wiley   +1 more source

ABL kinase‐dependent phosphorylation of SH proteins promotes their direct interaction with CRK family SH2 domains

FEBS Letters, EarlyView.
CT10 regulator of kinase (CRK) and CRK‐Like (CRKL) are signaling adaptors driving cell adhesion, motility, differentiation, and proliferation. SH2‐domain containing (SH) proteins are enriched in YXXP motifs which when phosphorylated create preferred binding sites for CRK family SH2 domains.
Phoebe M. Cousens, Brendan W. Chandler, Anna M. Schmoker, Jaye L. Weinert, Charlotte A. Kearns, Warren T. Yacawych, Amila Šemić, Alicia M. Ebert, Bryan A. Ballif   +8 more
wiley   +1 more source