The role of FUS gene variants in neurodegenerative diseases

H Deng, K Gao, J Jankovic - Nature Reviews Neurology, 2014 - nature.com
The neurodegenerative diseases are a diverse group of disorders characterized by
progressive loss of specific groups of neurons. These diseases affect different populations …

Functions of FUS/TLS from DNA repair to stress response: implications for ALS

RRK Sama, CL Ward, DA Bosco - ASN neuro, 2014 - journals.sagepub.com
Fused in sarcoma/translocated in liposarcoma (FUS/TLS or FUS) is a multifunctional DNA-
/RNA-binding protein that is involved in a variety of cellular functions including transcription …

Activity-dependent FUS dysregulation disrupts synaptic homeostasis

CF Sephton, AA Tang, A Kulkarni… - Proceedings of the …, 2014 - National Acad Sciences
The RNA-binding protein fused-in-sarcoma (FUS) has been associated with amyotrophic
lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD), two …

[HTML][HTML] Intranuclear aggregation of mutant FUS/TLS as a molecular pathomechanism of amyotrophic lateral sclerosis

T Nomura, S Watanabe, K Kaneko, K Yamanaka… - Journal of Biological …, 2014 - ASBMB
Dominant mutations in FUS/TLS cause a familial form of amyotrophic lateral sclerosis (fALS),
where abnormal accumulation of mutant FUS proteins in cytoplasm has been observed as a …

[HTML][HTML] RNA-binding proteins in neurological diseases

HL Zhou, M Mangelsdorf, JH Liu, L Zhu… - Science China Life …, 2014 - Springer
Emerging studies support that RNA-binding proteins (RBPs) play critical roles in human
biology and pathogenesis. RBPs are essential players in RNA processing and metabolism …

FUS is sequestered in nuclear aggregates in ALS patient fibroblasts

JC Schwartz, ER Podell, SSW Han… - Molecular biology of …, 2014 - Am Soc Cell Biol
Mutations in the RNA-binding protein FUS have been shown to cause the
neurodegenerative disease amyotrophic lateral sclerosis (ALS). We investigate whether …

[HTML][HTML] Folding of the RNA recognition motif (RRM) domains of the amyotrophic lateral sclerosis (ALS)-linked protein TDP-43 reveals an intermediate state

BC Mackness, MT Tran, SP McClain… - Journal of Biological …, 2014 - ASBMB
Pathological alteration of TDP-43 (TAR DNA-binding protein-43), a protein involved in
various RNA-mediated processes, is a hallmark feature of the neurodegenerative diseases …

NKAP is a novel RS-related protein that interacts with RNA and RNA binding proteins

BD Burgute, VS Peche, AL Steckelberg… - Nucleic acids …, 2014 - academic.oup.com
NKAP is a highly conserved protein with roles in transcriptional repression, T-cell
development, maturation and acquisition of functional competency and maintenance and …

RNA binding proteins: a common denominator of neuronal function and dysfunction

E Doxakis - Neuroscience bulletin, 2014 - Springer
In eukaryotic cells, gene activity is not directly reflected by protein levels because mRNA
processing, transport, stability, and translation are co-and post-transcriptionally regulated …

Synthetic Lethality and Metabolism in Ewing Sarcoma: Knowledge Through Silence

A Jonker - 2014 - theses.fr
Résumé Le sarcome de Ewing est la seconde tumeur pédiatrique de l'os la plus fréquente.
Elle est caractérisée par une translocation chromosomique résultant à la fusion de EWSR1 …