Results 31 to 40 of about 634,892 (192)

Pathological mutation in SMN impairs modulation of GAR1 phase separation linking condensate dysfunction to Spinal Muscular Atrophy

bioRxiv
Pathological mutations in liquid-liquid phase separation (LLPS) scaffold proteins have been linked to biomolecular condensate dysfunction in neurodegenerative diseases, while the possible impact of client protein mutations remains unclear.
Félix SS, O’Toole P, Oliveira NAS, Pinho BR, Blacker TS, Fernandes F, Oliveira JMA, Oroz J, Laurents DV, Cabrita EJ.   +9 more
europepmc   +2 more sources

Friend of Prmt1, FOP is a novel component of the nuclear SMN complex isolated using biotin affinity purification [PDF]

, 2014
SMN (survival motor neuron protein) complexes are essential for the biogenesis of uridine-rich small nuclear ribonucleoproteins (UsnRNPs). During the biogenesis, the SMN complexes bound to UsnRNPs are transported from the cytoplasm to the nucleus, and ...
Ishikawa, H. (Hiroki), Isobe, T. (Toshiaki), Izumikawa, K. (Keiichi), Miyazawa, N. (Naoki), Nakayama, H. (Hiroshi), Nobe, Y. (Yuko), Philipsen, J.N.J. (Sjaak), Takahashi, N. (Nozomi), Taoka, M. (Masato), Terukina, G. (Goro), Yamauchi, N. (Naoto), Yoshikawa, H. (Harunori)   +11 more
core   +10 more sources

Mechanism of assembly of snRNP cores assisted by ICln and the SMN complex in fission yeast

iScience, 2023
Summary: The spliceosomal snRNP cores, each comprised of a snRNA and a seven-membered Sm ring (D1/D2/F/E/G/D3/B), are assembled by twelve chaperoning proteins in human.
Yan Hu, Yan Hou, Shijie Zhou, Yingzhi Wang, Congcong Shen, Li Mu, Dan Su, Rundong Zhang   +7 more
doaj   +1 more source

WRAP53 is essential for Cajal body formation and for targeting the survival of motor neuron complex to Cajal bodies. [PDF]

PLoS Biology, 2010
The WRAP53 gene gives rise to a p53 antisense transcript that regulates p53. This gene also encodes a protein that directs small Cajal body-specific RNAs to Cajal bodies.
Salah Mahmoudi, Sofia Henriksson, Irene Weibrecht, Stephen Smith, Ola Söderberg, Staffan Strömblad, Klas G Wiman, Marianne Farnebo   +7 more
doaj   +1 more source

The SMN Complex at the Crossroad between RNA Metabolism and Neurodegeneration

International Journal of Molecular Sciences, 2023
In the cell, RNA exists and functions in a complex with RNA binding proteins (RBPs) that regulate each step of the RNA life cycle from transcription to degradation.
I. Faravelli, G. Riboldi, Paola Rinchetti, F. Lotti   +3 more
semanticscholar   +1 more source

Sumoylation regulates the assembly and activity of the SMN complex

Nature Communications, 2021
SMN is a ubiquitously expressed protein and is essential for life. SMN deficiency causes the neurodegenerative disease spinal muscular atrophy (SMA), the leading genetic cause of infant mortality.
G. Riboldi, I. Faravelli, Takaaki Kuwajima, N. Delestrée, Georgia Dermentzaki, Mariàngels de Planell-Saguer, Paola Rinchetti, L. Hao, Christine C Beattie, S. Corti, S. Przedborski, G. Mentis, F. Lotti   +12 more
semanticscholar   +1 more source

Identification and structural analysis of the Schizosaccharomyces pombe SMN complex

Nucleic Acids Research, 2021
The macromolecular SMN complex facilitates the formation of Sm-class ribonucleoproteins involved in mRNA processing (UsnRNPs). While biochemical studies have revealed key activities of the SMN complex, its structural investigation is lagging behind. Here
J. Veepaschit, A. Viswanathan, R. Bordonné, C. Grimm, U. Fischer   +4 more
semanticscholar   +1 more source

Presynaptic localization of Smn and hnRNP R in axon terminals of embryonic and postnatal mouse motoneurons. [PDF]

PLoS ONE, 2014
Spinal muscular atrophy (SMA) is caused by deficiency of the ubiquitously expressed survival motoneuron (SMN) protein. SMN is crucial component of a complex for the assembly of spliceosomal small nuclear ribonucleoprotein (snRNP) particles.
Benjamin Dombert, Rajeeve Sivadasan, Christian M Simon, Sibylle Jablonka, Michael Sendtner   +4 more
doaj   +1 more source

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 Is Physiologically Downregulated at Wild-Type Motor Nerve Terminals but Aggregates Together with Neurofilaments in SMA Mouse Models

Biomolecules, 2022
Survival motor neuron (SMN) is an essential and ubiquitously expressed protein that participates in several aspects of RNA metabolism. SMN deficiency causes a devastating motor neuron disease called spinal muscular atrophy (SMA).
Julio Franco-Espin, Alaó Gatius, José Ángel Armengol, Saravanan Arumugam, Mehri Moradi, Michael Sendtner, Jordi Calderó, Lucia Tabares   +7 more
doaj   +1 more source