Associated Papers
Modelling Population Genetic Screening in Rare Neurodegenerative Diseases.
Spargo TP et al.
Biomedicines, 2025
Mutations in FUS lead to synaptic dysregulation in ALS-iPSC derived neurons.
Shum C et al.
Stem Cell Reports, 2024
Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.
Bagyinszky E et al.
Cells, 2023
Nucleation and dissolution mechanism underlying amyotrophic lateral sclerosis/frontotemporal lobar dementia-linked fused in sarcoma condensates.
Djaja NA et al.
Iscience, 2023
Human motor units in microfluidic devices are impaired by FUS mutations and improved by HDAC6 inhibition.
Stoklund Dittlau K et al.
Stem Cell Reports, 2021
Mechanism of karyopherin-β2 binding and nuclear import of ALS variants FUS(P525L) and FUS(R495X).
Gonzalez A et al.
Scientific Reports, 2021
FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention.
Humphrey J et al.
Nucleic Acids Research, 2020
ALS/FTD-associated protein FUS induces mitochondrial dysfunction by preferentially sequestering respiratory chain complex mRNAs.
Tsai YL et al.
Genes & Development, 2020
Off-Label Treatment of 4 Amyotrophic Lateral Sclerosis Patients With 4-Aminopyridine.
Peikert K et al.
Journal of Clinical Pharmacology, 2019
Impaired DNA damage response signaling by FUS-NLS mutations leads to neurodegeneration and FUS aggregate formation.
Naumann M et al.
Nature Communications, 2018
HDAC6 inhibition reverses axonal transport defects in motor neurons derived from FUS-ALS patients.
Guo W et al.
Nature Communications, 2017
Clinical and experimental studies of a novel P525R FUS mutation in amyotrophic lateral sclerosis.
Kuang L et al.
Neurology. Genetics, 2017
Amyotrophic Lateral Sclerosis.
Brown RH et al.
The New England Journal of Medicine, 2017
Novel FUS mutations identified through molecular screening in a large cohort of familial and sporadic amyotrophic lateral sclerosis.
Tarlarini C et al.
European Journal of Neurology, 2015
The distinct genetic pattern of ALS in Turkey and novel mutations.
Özoğuz A et al.
Neurobiology of Aging, 2015
Amyotrophic lateral sclerosis: new insights into underlying molecular mechanisms and opportunities for therapeutic intervention.
Cozzolino M et al.
Antioxidants & Redox Signaling, 2012
Transportin 1 accumulates specifically with FET proteins but no other transportin cargos in FTLD-FUS and is absent in FUS inclusions in ALS with FUS mutations.
Neumann M et al.
Acta Neuropathologica, 2012
Structural and energetic basis of ALS-causing mutations in the atypical proline-tyrosine nuclear localization signal of the Fused in Sarcoma protein (FUS).
Zhang ZC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2012
FUS-NLS/Transportin 1 complex structure provides insights into the nuclear targeting mechanism of FUS and the implications in ALS.
Niu C et al.
Plos One, 2012
Pathological heterogeneity in amyotrophic lateral sclerosis with FUS mutations: two distinct patterns correlating with disease severity and mutation.
Mackenzie IR et al.
Acta Neuropathologica, 2011
FUS gene mutations associated with familiar forms of amyotrophic lateral sclerosis affect cellular localization and aggregation properties of the encoded protein.
Shelkovnikova TA et al.
Doklady. Biochemistry and Biophysics, 0