Results 81 to 90 of about 48,475 (224)

Synaptic accumulation of FUS triggers age-dependent misregulation of inhibitory synapses in ALS-FUS mice [PDF]

, 2020
FUS is a primarily nuclear RNA-binding protein with important roles in RNA processing and transport. FUS mutations disrupting its nuclear localization characterize a subset of amyotrophic lateral sclerosis (ALS-FUS) patients, through an unidentified ...
Pérez-Berlanga, Manuela, Sahadevan, Sonu, Hembach, Katharina M, Robinson, Mark D, De Rossi, Pierre, Weber, Julien, Tantardini, Elena, Dupuis, Luc, Hruska-Plochan, Marian, Polymenidou, Magdalini, Schwarz, Petra   +10 more
core   +1 more source

Spindle cell rhabdomyosarcomas: With TFCP2 rearrangements, and novel EWSR1::ZBTB41 and PLOD2::RBM6 gene fusions. A study of five cases and review of the literature

Histopathology, Volume 84, Issue 5, Page 776-793, April 2024.
Aims Spindle‐cell/sclerosing rhabdomyosarcomas (SS‐RMS) are clinically and genetically heterogeneous. They include three well‐defined molecular subtypes, of which those with EWSR1/FUS::TFCP2 rearrangements were described only recently. This study aimed to evaluate five new cases of SS‐RMS and to perform a clinicopathological and statistical analysis of
Martina Bradová, Elaheh Mosaieby, Michael Michal, Tomáš Vaněček, Stanislav Kormunda Ing, Petr Grossmann, Olena Koshyk, Zdeněk Kinkor, Šimon Laciok, Antónia Nemcová, Ľubomír Straka, Mihaela Farkas, Michal Michal, Marián Švajdler   +13 more
wiley   +1 more source

The multifunctional FUS protein: Characterization of the biological effects of its depletion [PDF]

, 2013
FUS/TLS (fused in sarcoma/translocated in liposarcoma) protein, a ubiquitously expressed RNA-binding protein, has been linked to a variety of cellular processes, such as RNA metabolism, microRNA biogenesis and DNA repair. However, the precise role of FUS
Ruepp, Marc-David
core  

ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules [PDF]

, 2013
Mutations in the gene encoding Fused in Sarcoma (FUS) cause amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disorder. FUS is a predominantly nuclear DNA- and RNA-binding protein that is involved in RNA processing.
Miller, CC, Catherine Manser, Claire Troakes, Troakes, C, Claudia Kathe, Scotter, Emma, Boris Rogelj, Urwin, Hazel, Mitchell, JC, Scotter, EL, Kathe, Claudia, Nishimura, AL, Dragunow, M, Rogelj, Boris, Rogelj, B, Emma L. Scotter, Manser, Catherine, Urwin, H, Hortobágyi, Tibor, Shaw, Christopher E., Mitchell, Jacqueline C., Tibor Hortobágyi, Vance, Caroline; id_orcid, Agnes L. Nishimura, Nishimura, Agnes L., Caroline Vance, Jacqueline C. Mitchell, Dragunow, Mike, Dragunow, Michael, Shaw, CE, Vance, C, Scotter, Emma L., Troakes, Claire; id_orcid, Kathe, C, Hortobágyi, T, Manser, C, Mike Dragunow, Christopher E. Shaw, Hazel Urwin, Christopher C. Miller, Miller, Christopher C.; id_orcid   +40 more
core   +1 more source

Morphological and molecular characterization of skeletal and extraskeletal Ewing family of tumors in a tertiary care center of eastern India

Indian Journal of Pathology and Microbiology
Background and Aim: Ewing family of tumors (EFT) encompass a group of small blue round cell tumors, including Ewing sarcoma (ES) and EWSR1-negative undifferentiated small round cell sarcoma.
Mukund N. Sable, JN Aparnna, Suvendu Purkait   +2 more
doaj   +1 more source

Expression of Fused in sarcoma mutations in mice recapitulates the neuropathology of FUS proteinopathies and provides insight into disease pathogenesis

Molecular Neurodegeneration, 2012
Background Mutations in the gene encoding the RNA-binding protein fused in sarcoma (FUS) can cause familial and sporadic amyotrophic lateral sclerosis (ALS) and rarely frontotemproal dementia (FTD).
Verbeeck Christophe, Deng Qiudong, DeJesus-Hernandez Mariely, Taylor Georgia, Ceballos-Diaz Carolina, Kocerha Jannet, Golde Todd, Das Pritam, Rademakers Rosa, Dickson Dennis W, Kukar Thomas   +10 more
doaj   +1 more source

Increased expression of human antiviral protein MxA in FUS proteinopathy in amyotrophic lateral sclerosis

Brain Pathology, Volume 34, Issue 2, March 2024.
Abstract FUS mutations are one of the major mutations in familial amyotrophic lateral sclerosis (ALS). The pathological hallmark is FUS‐positive neuronal cytoplasmic inclusions (FUS‐NCI), known as FUS proteinopathy. Human myxovirus resistance protein 1 (MxA) is an IFN‐induced dynamin‐like GTPase that acts as antiviral factor. In this study, we examined
Hiroyuki Honda, Kaoru Yagita, Hajime Arahata, Hideomi Hamasaki, Hideko Noguchi, Sachiko Koyama, Naokazu Sasagasako   +6 more
wiley   +1 more source

Characterization of FUS mutations in amyotrophic lateral sclerosis using RNA-Seq. [PDF]

PLoS ONE, 2013
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease resulting in severe muscle weakness and eventual death by respiratory failure. Although little is known about its pathogenesis, mutations in fused in sarcoma/translated in liposarcoma ...
Marka van Blitterswijk, Eric T Wang, Brad A Friedman, Pamela J Keagle, Patrick Lowe, Ashley Lyn Leclerc, Leonard H van den Berg, David E Housman, Jan H Veldink, John E Landers   +9 more
doaj   +1 more source

Unravelling the multiple roles of FUS in RNA processing and on ALS pathogenesis [PDF]

, 2013
Two genes with related functions in RNA biogenesis were recently reported in patients with familial ALS: the FUS/TLS gene at the ALS6 locus and the TARDBP/TDP-43 gene at the ALS10 locus [1, 2].
Ruepp, Marc-David
core  

Exogenous expression of FUS can rescue the depletion of endogenous FUS to repress exon 7. [PDF]

, 2013
A) Schematic of the rescue assay. FUS protein was first knocked down by siRNA targeting 3′ UTR of FUS for 48 h and then increased by the expression of EGFP-FUS plasmid for 24 h in HEK293 cells. B) Western blot analysis of FUS in the rescue assay.
Geoffrey G. Hicks (14105), Arzu Öztürk (478466), Yueqin Zhou (478465), Songyan Liu (14109), Guodong Liu (278986)   +4 more
core   +1 more source