Proteome Aggregation in Cells Derived from Amyotrophic Lateral Sclerosis Patients for Personalized Drug Evaluation
Pérez de la Lastra Aranda C. et al, (2024), ACS Chemical Neuroscience
Dynactin-1 mediates rescue of impaired axonal transport due to reduced mitochondrial bioenergetics in amyotrophic lateral sclerosis motor neurons
Dafinca R. et al, (2024), Brain Communications
Cellular and axonal transport phenotypes due to the C9ORF72 HRE in iPSC motor and sensory neurons
Scaber J. et al, (2024), Stem Cell Reports, 19, 957 - 972
Mutant GGGGCC RNA prevents YY1 from binding to Fuzzy promoter which stimulates Wnt/β-catenin pathway in C9ALS/FTD.
Chen ZS. et al, (2023), Nat Commun, 14
C9orf72-ALS human iPSC microglia are pro-inflammatory and toxic to co-cultured motor neurons via MMP9
Vahsen BF. et al, (2023), Nature Communications, 14
Poly(ADP-ribose) promotes toxicity of C9ORF72 arginine-rich dipeptide repeat proteins.
Gao J. et al, (2022), Sci Transl Med, 14
Human iPSC co-culture model to investigate the interaction between microglia and motor neurons
Vahsen BF. et al, (2022), Scientific Reports, 12
Human stem cell models of neurodegeneration: From basic science of amyotrophic lateral sclerosis to clinical translation
Giacomelli E. et al, (2022), Cell Stem Cell, 29, 11 - 35
Axonal TDP-43 condensates drive neuromuscular junction disruption through inhibition of local synthesis of nuclear encoded mitochondrial proteins.
Altman T. et al, (2021), Nat Commun, 12
The Role of Mitochondrial Dysfunction and ER Stress in TDP-43 and C9ORF72 ALS
Dafinca R. et al, (2021), Frontiers in Cellular Neuroscience, 15
An ALS-linked mutation in TDP-43 disrupts normal protein interactions in the motor neuron response to oxidative stress
Feneberg E. et al, (2020), Neurobiology of Disease, 144, 105050 - 105050
Correction of amyotrophic lateral sclerosis related phenotypes in induced pluripotent stem cell-derived motor neurons carrying a hexanucleotide expansion mutation in C9orf72 by CRISPR/Cas9 genome editing using homology-directed repair
Ababneh NA. et al, (2020), Human Molecular Genetics, 29, 2200 - 2217
Impairment of mitochondrial calcium buffering links mutations in C9orf72 and TARDBP in iPS-derived motor neurons from patients with ALS/FTD
DAFINCA R. et al, (2020), Stem Cell Reports
Single-copy expression of an amyotrophic lateral sclerosis-linked TDP-43 mutation (M337V) in BAC transgenic mice leads to altered stress granule dynamics and progressive motor dysfunction
Gordon D. et al, (2019), Neurobiology of Disease, 121, 148 - 162
C9orf72 and RAB7L1 regulate vesicle trafficking in amyotrophic lateral sclerosis and frontotemporal dementia
Aoki Y. et al, (2017), Brain, 140, 887 - 897
C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
Dafinca R. et al, (2016), Stem Cells, 34, 2063 - 2078
Absence of wide-spread mis-splicing in the preclinical phase of a native promoter driven TDP-43 mouse model of ALS
Scaber J. et al, (2016), EUROPEAN JOURNAL OF NEUROLOGY, 23, 797 - 797
Absence of wide-spread mis-splicing in the preclinical phase of a native promoter driven TDP-43 mouse model of ALS
Scaber J. et al, (2016), NEUROMUSCULAR DISORDERS, 26, S31 - S31
TDP-43 is cytoplasmically mislocalized and associated with impaired stress responses and survival of primary neurons from symptomatic amyotrophic lateral sclerosis (ALS) mice
Farrimond L. et al, (2016), EUROPEAN JOURNAL OF NEUROLOGY, 23, 390 - 391
Development of LNA gapmer oligonucleotide based therapy for FTD/ALS caused by the C9orf72 repeat expansion
Aoki Y. et al, (2015), Neuromuscular Disorders, 25, S315 - S316