Functional interaction between FUS and SMN underlies SMA-like splicing changes in wild-type hFUS mice

Nuclear trafficking in amyotrophic lateral sclerosis and frontotemporal lobar degeneration

(2016) Sonja Prpar Mihevc et al.   BRAIN

OldversusNew Mechanisms in the Pathogenesis of ALS

(2016) Simona Rossi et al.   BRAIN PATHOLOGY

Minor intron splicing is regulated by FUS and affected by ALS‐associated FUS mutants

(2016) Stefan Reber et al.   EMBO JOURNAL

Toxic gain of function from mutant FUS protein is crucial to trigger cell autonomous motor neuron loss

(2016) Jelena Scekic‐Zahirovic et al.   EMBO JOURNAL

Deficient RNA-editing enzyme ADAR2 in an amyotrophic lateral sclerosis patient with a FUSP525L mutation

(2016) Hitoshi Aizawa et al.   JOURNAL OF CLINICAL NEUROSCIENCE

RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns

(2016) Thomas Koed Doktor et al.   NUCLEIC ACIDS RESEARCH

ALS-associated mutant FUS induces selective motor neuron degeneration through toxic gain of function

(2016) Aarti Sharma et al.   Nature Communications

Pathogenesis of FUS-associated ALS and FTD: insights from rodent models

(2016) Matthew Nolan et al.   Acta Neuropathologica Communications

U1 snRNP is mislocalized in ALS patient fibroblasts bearing NLS mutations in FUS and is required for motor neuron outgrowth in zebrafish

(2015) Yong Yu et al.   NUCLEIC ACIDS RESEARCH

Pur-alpha functionally interacts with FUS carrying ALS-associated mutations

(2015) M Di Salvio et al.   Cell Death & Disease

ALS-causative mutations in FUS/TLS confer gain and loss of function by altered association with SMN and U1-snRNP

(2015) Shuying Sun et al.   Nature Communications

The intriguing case of motor neuron disease: ALS and SMA come closer

(2015) Tilmann Achsel et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Splicing changes in SMA mouse motoneurons and SMN-depleted neuroblastoma cells: Evidence for involvement of splicing regulatory proteins

(2015) Qing Huo et al.   RNA Biology

Chondrolectin affects cell survival and neuronal outgrowth in in vitro and in vivo models of spinal muscular atrophy

(2013) James N. Sleigh et al.   HUMAN MOLECULAR GENETICS

ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN

(2013) Ewout J.N. Groen et al.   HUMAN MOLECULAR GENETICS

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

(2013) Hong Joo Kim et al.   NATURE

Overexpression of survival motor neuron improves neuromuscular function and motor neuron survival in mutant SOD1 mice

(2013) Bradley J. Turner et al.   NEUROBIOLOGY OF AGING

Mislocalised FUS mutants stall spliceosomal snRNPs in the cytoplasm

(2013) Valeria Gerbino et al.   NEUROBIOLOGY OF DISEASE

Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy

(2013) Z. Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion

(2012) Jacqueline C. Mitchell et al.   ACTA NEUROPATHOLOGICA

An SMN-Dependent U12 Splicing Event Essential for Motor Circuit Function

(2012) Francesco Lotti et al.   CELL

Mutant superoxide dismutase 1 (SOD1), a cause of amyotrophic lateral sclerosis, disrupts the recruitment of SMN, the spinal muscular atrophy protein to nuclear Cajal bodies

(2012) Shingo Kariya et al.   HUMAN MOLECULAR GENETICS

FUS-SMN Protein Interactions Link the Motor Neuron Diseases ALS and SMA

(2012) Tomohiro Yamazaki et al.   Cell Reports

Mitochondrial redox signalling by p66Shc mediates ALS-like disease through Rac1 inactivation

(2011) M. G. Pesaresi et al.   HUMAN MOLECULAR GENETICS

A Role for SMN Exon 7 Splicing in the Selective Vulnerability of Motor Neurons in Spinal Muscular Atrophy

(2011) M. Ruggiu et al.   MOLECULAR AND CELLULAR BIOLOGY

Profound downregulation of the RNA editing enzyme ADAR2 in ALS spinal motor neurons

(2011) Takuto Hideyama et al.   NEUROBIOLOGY OF DISEASE

Impaired minor tri-snRNP assembly generates differential splicing defects of U12-type introns in lymphoblasts derived from a type I SMA patient

(2010) Nawal Boulisfane et al.   HUMAN MOLECULAR GENETICS

Survival motor neuron deficiency enhances progression in an amyotrophic lateral sclerosis mouse model

(2009) Bradley J. Turner et al.   NEUROBIOLOGY OF DISEASE

SMN Deficiency Causes Tissue-Specific Perturbations in the Repertoire of snRNAs and Widespread Defects in Splicing

(2008) Zhenxi Zhang et al.   CELL

Identification of a battery of tests for drug candidate evaluation in the SMNΔ7 neonate model of spinal muscular atrophy

(2008) Bassem F. El-Khodor et al.   EXPERIMENTAL NEUROLOGY

Modeling Spinal Muscular Atrophy in Drosophila

(2008) Howard Chia-Hao Chang et al.   PLoS One