[HTML][HTML] Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing
…, J Vandrovcova, J Simon-Sanchez, M Castillo-Lizardo… - Genome biology, 2017 - Springer
Background Whole-exome sequencing (WES) has been successful in identifying genes that
cause familial Parkinson’s disease (PD). However, until now this approach has not been …
cause familial Parkinson’s disease (PD). However, until now this approach has not been …
[HTML][HTML] The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects
…, A Capell, C Haass, M Castillo-Lizardo… - Genetics in …, 2018 - nature.com
Methods We investigated the frequencies and mutations in neurodegenerative disease
genes in 121 consecutive FTD subjects using an unbiased, combined sequencing approach, …
genes in 121 consecutive FTD subjects using an unbiased, combined sequencing approach, …
[HTML][HTML] C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers
…, S Heetveld, EM Lynes, M Castillo-Lizardo… - Acta neuropathologica …, 2016 - Springer
A non-coding hexanucleotide repeat expansion (HRE) in C9orf72 is a common cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) acting through a loss of …
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) acting through a loss of …
[PDF][PDF] Drug screen in iPSC-Neurons identifies nucleoside analogs as inhibitors of (G4C2) n expression in C9orf72 ALS/FTD
…, D Farny, A Dalmia, J Täger, M Castillo-Lizardo… - Cell reports, 2022 - cell.com
An intronic (G 4 C 2 ) n expansion in C9orf72 causes amyotrophic lateral sclerosis and
frontotemporal dementia primarily through gain-of-function mechanisms: the accumulation of …
frontotemporal dementia primarily through gain-of-function mechanisms: the accumulation of …
[HTML][HTML] Replication slippage of the thermophilic DNA polymerases B and D from the Euryarchaeota Pyrococcus abyssi
M Castillo-Lizardo, G Henneke, E Viguera - Frontiers in microbiology, 2014 - frontiersin.org
Replication slippage or slipped-strand mispairing involves the misalignment of DNA strands
during the replication of repeated DNA sequences, and can lead to genetic rearrangements …
during the replication of repeated DNA sequences, and can lead to genetic rearrangements …
Automated production of human induced pluripotent stem cell-derived cortical and dopaminergic neurons with integrated live-cell monitoring
…, E Sadikoglou, N Fernandes, M Castillo-Lizardo… - JoVE (Journal of …, 2020 - jove.com
Manual culture and differentiation protocols for human induced pluripotent stem cells (hiPSC)
are difficult to standardize, show high variability and are prone to spontaneous …
are difficult to standardize, show high variability and are prone to spontaneous …
[PDF][PDF] In vitro differentiated human stem cell-derived neurons reproduce synaptic synchronicity arising during neurodevelopment
…, G Elsen, S Mueller, N Schwarz, M Castillo-Lizardo… - Stem Cell Reports, 2020 - cell.com
Neurons differentiated from induced pluripotent stem cells (iPSCs) typically show regular
spiking and synaptic activity but lack more complex network activity critical for brain …
spiking and synaptic activity but lack more complex network activity critical for brain …
[HTML][HTML] Contribution of the non-effector members of the HrpL regulon, iaaL and matE, to the virulence of Pseudomonas syringae pv. tomato DC3000 in tomato …
MG Castillo-Lizardo, IM Aragón, V Carvajal, IM Matas… - BMC microbiology, 2015 - Springer
Background The phytohormone indole-3-acetic acid (IAA) is widely distributed among plant-associated
bacteria. Certain strains of the Pseudomonas syringae complex can further …
bacteria. Certain strains of the Pseudomonas syringae complex can further …
Integrated multi-omics analysis reveals common and distinct dysregulated pathways for genetic subtypes of Frontotemporal Dementia
…, C Blauwendraat, A Dhingra, M Castillo Lizardo… - bioRxiv, 2020 - biorxiv.org
Understanding the molecular mechanisms underlying frontotemporal dementia (FTD) is
essential for the development of successful therapies. Here, we present Phase 1 of a multi-omics…
essential for the development of successful therapies. Here, we present Phase 1 of a multi-omics…
[HTML][HTML] A multi-omics dataset for the analysis of frontotemporal dementia genetic subtypes
…, C Blauwendraat, A Dhingra, M Castillo-Lizardo… - Scientific data, 2023 - nature.com
Understanding the molecular mechanisms underlying frontotemporal dementia (FTD) is
essential for the development of successful therapies. Systematic studies on human post-…
essential for the development of successful therapies. Systematic studies on human post-…