Results 1 to 10 of about 72,844 (129)

Survival motor neuron protein-independent amelioration of spinal muscular atrophy by pharmacological inhibition of c-Jun-NH₂ terminal kinase. [PDF]

Brain Commun
Abstract Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder caused by mutation of the survival motor neuron 1 (SMN1) gene. SMA is characterized by degeneration of the spinal cord motor neurons caused by chronic low levels of survival motor neuron (SMN) protein. Prevention or slowing of neurodegeneration
Kannan A, Bhatia K, Jiang X, Lesnik O, Asad SB, Fiocca K, Ahmad S, Feng Y, Branzei D, Gangwani L.   +9 more
europepmc   +2 more sources

Synaptic and cytoskeletal CSF signatures of motor neuron disease: the role of cyclase-associated protein 2 [PDF]

Scientific Reports
Cyclase-associated protein 2 (CAP2) is a synaptic actin-binding protein involved in cofilin-mediated spine remodelling, Alzheimer’s Disease synaptic failure and myofibril maintenance, indicating its potential involvement in motor neuron disease (MND ...
Andrea Pilotto, Silvia Pelucchi, Chiara Trasciatti, Lucia Ferullo, Loris Poli, Chiara Tolassi, Alberto Catanese, Irene Girotto, Beatrice Labella, Federica Gorla, Laura D’Andrea, Ramona Stringhi, Monica Di Luca, Elena Marcello, Alessandro Padovani   +14 more
doaj   +2 more sources

Does the survival motor neuron protein (SMN) interact with Bcl-2? [PDF]

Journal of Medical Genetics, 2000
Editor—Spinal muscular atrophy (SMA) is an autosomal recessive disease resulting from mutations in the telomeric copy of the survival motor neuron gene ( SMN1 ),1-7 which results in reduced expression of the survival of motor neuron protein (SMN).4 7 The SMN protein is ubiquitously expressed but is found at high levels in motor neurons.4 7 8 The SMN ...
D D, Coovert, T T, Le, G E, Morris, N T, Man, M, Kralewski, M, Sendtner, A H, Burghes   +6 more
openaire   +2 more sources

The RNA Binding Protein hnRNP Q Modulates the Utilization of Exon 7 in the Survival Motor Neuron 2 (SMN2) Gene [PDF]

Molecular and Cellular Biology, 2008
Spinal muscular atrophy (SMA) is a recessive neuromuscular disorder caused by the homozygous loss of the SMN1 gene. The human SMN2 gene has a C-to-T transition at position +6 of exon 7 and thus produces exon 7-skipping mRNAs. However, we observed an unexpectedly high level of exon 7-containing SMN2 transcripts as well as SMN protein in testis of smn(-/-
Hung-Hsi, Chen, Jan-Growth, Chang, Ruei-Min, Lu, Tsui-Yi, Peng, Woan-Yuh, Tarn   +4 more
openaire   +2 more sources

Functional Cooperation of Epstein-Barr Virus Nuclear Antigen 2 and the Survival Motor Neuron Protein in Transactivation of the Viral LMP1 Promoter [PDF]

Journal of Virology, 2001
ABSTRACT Epstein-Barr virus nuclear antigen 2 (EBNA2) is essential for viral transformation of B cells and transactivates cellular and viral target genes by binding RBPJκ tethered to cognate promoter elements. EBNA2 interacts with the DEAD-box protein DP103 (DDX20/Gemin3), which in turn is complexed to the survival motor neuron (SMN) protein.
M D, Voss, A, Hille, S, Barth, A, Spurk, F, Hennrich, D, Holzer, N, Mueller-Lantzsch, E, Kremmer, F A, Grässer   +8 more
openaire   +2 more sources

Epstein-Barr Virus Nuclear Antigen 2 Binds via Its Methylated Arginine-Glycine Repeat to the Survival Motor Neuron Protein [PDF]

Journal of Virology, 2003
ABSTRACT Here we provide evidence that EBNA2 is methylated in vivo and that methylation of EBNA2 is a prerequisite for binding to SMN. We present SMN as a novel binding partner of EBNA2 by showing that EBNA2 colocalizes with SMN in nuclear gems and that both proteins can be coimmunoprecipitated from cellular extract. Furthermore,
Barth, S., Liss, M., Voss, M., Dobner, T., Fischer, U., Meister, G., Grasser, F.   +6 more
openaire   +3 more sources

Genetic modifiers ameliorate endocytic and neuromuscular defects in a model of spinal muscular atrophy

BMC Biology, 2020
Background Understanding the genetic modifiers of neurodegenerative diseases can provide insight into the mechanisms underlying these disorders. Here, we examine the relationship between the motor neuron disease spinal muscular atrophy (SMA), which is ...
Melissa B. Walsh, Eva Janzen, Emily Wingrove, Seyyedmohsen Hosseinibarkooie, Natalia Rodriguez Muela, Lance Davidow, Maria Dimitriadi, Erika M. Norabuena, Lee L. Rubin, Brunhilde Wirth, Anne C. Hart   +10 more
doaj   +1 more source

SMN Protein Can Be Reliably Measured in Whole Blood with an Electrochemiluminescence (ECL) Immunoassay: Implications for Clinical Trials. [PDF]

PLoS ONE, 2016
Spinal muscular atrophy (SMA) is caused by defects in the survival motor neuron 1 (SMN1) gene that encodes survival motor neuron (SMN) protein. The majority of therapeutic approaches currently in clinical development for SMA aim to increase SMN protein ...
Phillip Zaworski, Katharine M von Herrmann, Shannon Taylor, Sara S Sunshine, Kathleen McCarthy, Nicole Risher, Tara Newcomb, Marla Weetall, Thomas W Prior, Kathryn J Swoboda, Karen S Chen, Sergey Paushkin   +11 more
doaj   +1 more source

Human Axonal Survival of Motor Neuron (a-SMN) Protein Stimulates Axon Growth, Cell Motility, C-C Motif Ligand 2 (CCL2), and Insulin-like Growth Factor-1 (IGF1) Production [PDF]

Journal of Biological Chemistry, 2012
Spinal muscular atrophy is a fatal genetic disease of motoneurons due to loss of full-length survival of motor neuron protein, the main product of the disease gene SMN1. Axonal SMN (a-SMN) is an alternatively spliced isoform of SMN1, generated by retention of intron 3.
Locatelli, Denise, Terao, Mineko, Fratelli, Maddalena, Zanetti, Adriana, Kurosaki, Mami, Lupi, Monica, Barzago, Maria Monica, Uggetti, Andrea, Capra, Silvia, D'Errico, Paolo, Battaglia, Giorgio S., Garattini, Enrico   +11 more
openaire   +2 more sources

Advances and limitations for the treatment of spinal muscular atrophy

BMC Pediatrics, 2022
Spinal muscular atrophy (5q-SMA; SMA), a genetic neuromuscular condition affecting spinal motor neurons, is caused by defects in both copies of the SMN1 gene that produces survival motor neuron (SMN) protein.
John W. Day, Kelly Howell, Amy Place, Kimberly Long, Jose Rossello, Nathalie Kertesz, George Nomikos   +6 more
doaj   +1 more source