Explanipedia

Impact assessment of dissemination techniques on data collection in a large multicenter Healthy Brain Ageing (HeBA) survey (Preprint) Open

Daniel F. Pilco‐Janeta, Philipp Mahlknecht, Myriam De la Cruz Puebla, Corinne G.C. Horlings, Alícia Garrido , et al. · 2025

BACKGROUND Innovative approaches are important for the early detection of Parkinson's disease (PD) and include large-scale online surveys on different risk factors in the general population. Effective dissemination contributes to the succ…

Low-frequency genetic variants in GAK enhance Golgi function and protect against Parkinson’s disease Open

Carles Calatayud, Irene Fernández‐Carasa, Nino Spataro, Claudio Mussolino, Yvonne Richaud‐Patín , et al. · 2025

Genome-wide association studies (GWAS) have contributed significantly to unraveling the genetic bases of complex diseases such as Parkinson’s disease (PD); yet experimental evidence for causation is often elusive. Here, we hypothesized tha…

Identifying individuals at-risk of developing Parkinson’s disease using a population-based recruitment strategy: The Healthy Brain Ageing Kassel Study Open

Sebastian Schade, Soumyabrata Ghosh, Alícia Garrido, Philipp Mahlknecht, Tainá M. Marques , et al. · 2025

Neurodegeneration in Parkinson’s disease (PD) occurs before motor features develop: assessing risk factors and identifying prodromal markers is necessary to recruit prodromal cohorts, improve early diagnosis, and develop preventive therapi…

Extracellular vesicle-mediated release of bis(monoacylglycerol)phosphate is regulated by LRRK2 and Glucocerebrosidase activity Open

Elsa Meneses‐Salas, Marianna Arnold, María Castellà, F. Hsieh, Rubén Fernández‐Santiago , et al. · 2025

The endo-lysosomal phospholipid, bis(monoacylglycerol)phosphate (BMP), is aberrantly elevated in the urine of Parkinson’s patients with mutations in genes encoding leucine-rich repeat kinase 2 (LRRK2) and glucocerebrosidase (GCase). Becaus…

Extracellular vesicle-mediated release of bis(monoacylglycerol)phosphate is regulated by LRRK2 and Glucocerebrosidase activity Open

Elsa Meneses‐Salas, Marianna Arnold, María Castellà, F. Hsieh, Rubén Fernández‐Santiago , et al. · 2025

The endo-lysosomal phospholipid, bis(monoacylglycerol)phosphate (BMP), is aberrantly elevated in the urine of Parkinson’s patients with mutations in genes encoding leucine-rich repeat kinase 2 (LRRK2) and glucocerebrosidase (GCase). Becaus…

Single-cell RNA sequencing of circulating immune cells supports inhibition of TNFAIP3 and NFKBIA translation as psoriatic arthritis biomarkers Open

Alícia Garrido, Rohan Machhar, Omar Fernando Cruz-Correa, Darshini Ganatra, Sarah Q. Crome , et al. · 2025

Objective To identify biomarkers that distinguish psoriatic arthritis (PsA) from cutaneous psoriasis without arthritis (PsC) and healthy controls (HC) using single cell RNA sequencing (scRNA-seq). Method Peripheral blood mononuclear cell s…

Phospho-Ser235-Rps6 and Il-6 Define a Peripheral Inflammatory Signature in Idiopathic and Lrrk2 G2019s-Associated Parkinson’S Disease: A Functional Validation Open

Almudena Chicote‐González, Pol Garcia‐Segura, Adriana Cortés, Júlia Solana‐Balaguer, Genís Campoy‐Campos , et al. · 2025

α‐Synuclein Gene Hypomethylation in LRRK2 Parkinson's Disease Patients Open

Lorena de Mena, Guillem Parés, Alícia Garrido, Daniel F. Pilco‐Janeta, Manel Fernández , et al. · 2024

Background α‐Synuclein ( SNCA ) gene hypomethylation was reported in idiopathic Parkinson's disease (iPD). Based on a high clinical resemblance between iPD and leucine‐rich repeat kinase 2 (LRRK2)‐driven Parkinson's disease (L2PD), we inve…

In-depth mass-spectrometry reveals phospho-RAB12 as a blood biomarker of G2019S LRRK2-driven Parkinson’s disease Open

Adriana Cortés, Toan K. Phung, Lorena de Mena, Alícia Garrido, Jon Infante , et al. · 2024

Leucine-rich repeat kinase 2 (LRRK2) inhibition is a promising disease-modifying therapy for LRRK2-associated Parkinson’s disease (L2PD) and idiopathic PD. However, pharmacodynamic readouts and progression biomarkers for clinical trials ai…

Preferences regarding Disclosure of Risk for Parkinson's Disease in a Population‐based Study Open

Philipp Mahlknecht, Simon Leiter, Corinne G.C. Horlings, Katarína Schwarzová, Iris Egner , et al. · 2024

Background Preferences for risk disclosure in population‐based studies assessing Parkinson's disease (PD) risk have not been assessed so far. Objectives To examine preferences for risk disclosure in a subset of the European Healthy Brain A…

Cholinergic dysfunction in isolated rapid eye movement sleep behaviour disorder links to impending phenoconversion Open

Miriam Højholt Terkelsen, Álex Iranzo, Mónica Serradell, Andreas Myhre Baun, Morten Gersel Stokholm , et al. · 2024

Background and purpose Most patients with isolated rapid eye movement sleep behaviour disorder (iRBD) progress to a parkinsonian alpha‐synucleinopathy. However, time to phenoconversion shows great variation. The aim of this study was to in…

In-depth mass-spectrometry reveals phospho-RAB12 as a blood biomarker of G2019S LRRK2-driven Parkinson’s Open

Adriana Cortés, Toan K. Phung, Lorena de Mena, Alícia Garrido, Jon Infante , et al. · 2024

Leucine-rich repeat kinase 2 (LRRK2) inhibition is a promising disease-modifying therapy for LRRK2-associated Parkinson’s disease (L2PD) and idiopathic PD (iPD). Yet, pharmaco-dynamic readouts and progression biomarkers for disease modific…

Microglial Activation and Progression of Nigrostriatal Dysfunction in Isolated REM Sleep Behavior Disorder Open

Kristian Stær, Álex Iranzo, Morten Gersel Stokholm, Victor S. Hvingelby, Erik Hvid Danielsen , et al. · 2024

Background Using 11 C‐(R)‐PK11195‐PET, we found increased microglia activation in isolated REM sleep behavior disorder (iRBD) patients. Their role remains to be clarified. Objectives The objective is to assess relationships between activat…

Blocking IL-6 signaling prevents astrocyte-induced neurodegeneration in an iPSC-based model of Parkinson’s disease Open

Meritxell Pons‐Espinal, Lucas Blasco-Agell, Irene Fernández‐Carasa, Pol Andrés‐Benito, Angelique di Domenico , et al. · 2024

Parkinson's disease (PD) is a neurodegenerative disease associated with progressive death of midbrain dopamine (DAn) neurons in the substantia nigra (SN). Since it has been proposed that patients with PD exhibit an overall proinflammatory …

Progression of brain cholinergic dysfunction in patients with isolated rapid eye movement sleep behavior disorder Open

Kristian Stær, Álex Iranzo, Miriam Højholt Terkelsen, Morten Gersel Stokholm, Erik Hvid Danielsen , et al. · 2023

Background Reduced cortical acetylcholinesterase activity, as measured by 11 C‐donepezil positron emission tomography (PET), has been reported in patients with isolated rapid eye movement (REM) sleep behavior disorder (iRBD). However, its …

Extracellular vesicle-mediated release of bis(monoacylglycerol)phosphate is regulated by LRRK2 and Glucocerebrosidase activity Open

Elsa Meneses‐Salas, Moisés Castellá, María Castellà, F. Hsieh, Rubén Fernández‐Santiago , et al. · 2023

The endolysosomal phospholipid, bis(monoacylglycerol)phosphate (BMP), is aberrantly elevated in the urine of Parkinson’s patients with mutations in genes encoding leucine-rich repeat kinase 2 (LRRK2) and glucocerebrosidase (GCase). Because…

Prognostic Accuracy of N20 Somatosensory Potential in Patients With Acute Ischemic Stroke and Endovascular Thrombectomy Open

Alicia Martínez‐Piñeiro, Giuseppe Lucente, María Hernández‐Pérez, Jordi Cortés, Andrea Arbex , et al. · 2023

Background Somatosensory evoked potentials may add substantial prognostic value in patients with acute ischemic stroke and contribute to the selection of patients who may benefit from revascularization therapies beyond the accepted therape…

POS1608 MIRNA BIOMARKERS FOR ARTICULAR AND CUTANEOUS RESPONSE TO METHOTREXATE IN PSORIATIC ARTHRITIS Open

Omar Correa, D. Ganatra, Alícia Garrido, Rohan Machhar, Starlee Lively , et al. · 2023

Brainstem neuromelanin and iron MRI reveals a precise signature for idiopathic and LRRK2 Parkinson’s disease Open

Martı́n Martı́nez, Mikel Ariz, Ignacio Álvarez, Gabriel Castellanos, Miquel Aguilar , et al. · 2023

Elevated urine BMP phospholipids in LRRK2 and VPS35 mutation carriers with and without Parkinson’s disease Open

Sara Gomes, Alícia Garrido, Francesca Tonelli, Donina Obiang, Eduardo Tolosa , et al. · 2023

Association of Time of Day With Outcomes Among Patients Triaged for a Suspected Severe Stroke in Nonurban Catalonia Open

Álvaro García‐Tornel, Alan Flores, Mikel Terceño, P. Cardona, Sergio Amaro , et al. · 2023

Background: We aim to assess whether time of day modified the treatment effect in the RACECAT trial (Direct Transfer to an Endovascular Center Compared to Transfer to the Closest Stroke Center in Acute Stroke Patients With Suspected Large …

Elevated urine BMP phospholipids in LRRK2 and VPS35 mutation carriers with and without Parkinson's disease Open

Sara Gomes, Alícia Garrido, Francesca Tonelli, Donina Obiang, Eduardo Tolosa , et al. · 2023

Participant demographic and clinical characteristics, and urine BMP phospholipid levels. For each participant, sample collection site is provided as: BCN (Barcelona), VIE (Vienna), DND (Dundee), or SSB (San Sebastian). Al…

Elevated urine BMP phospholipids in LRRK2 and VPS35 mutation carriers with and without Parkinson's disease Open

Sara Gomes, Alícia Garrido, Francesca Tonelli, Donina Obiang, Eduardo Tolosa , et al. · 2023

Participant demographic and clinical characteristics, and urine BMP phospholipid levels. \n\nFor each participant, sample collection site is provided as: BCN (Barcelona), V…

Differential serum microRNAs in premotor LRRK2 G2019S carriers from Parkinson’s disease Open

Marta Soto, Manel Fernández, Paloma Bravo, Sara Lahoz, Alícia Garrido , et al. · 2023

The LRRK2 G2019S pathogenic mutation causes LRRK2-associated Parkinson’s disease (L2PD) with incomplete penetrance. LRRK2 non-manifesting carriers (L2NMC) are at PD high risk but predicting pheno-conversion is challenging given the lack of…

Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort Open

Eva‐Juliane Vollstedt, Susen Schaake, Katja Lohmann, Shalini Padmanabhan, Alexis Brice , et al. · 2023

Background As gene‐targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated numb…

Brain and Cerebrospinal Fluid α‐Synuclein Real‐Time Quaking‐Induced Conversion Identifies Lewy Body Pathology in LRRK2‐PD Open

Alícia Garrido, Graham Fairfoul, Eduardo Tolosa, Marı́a José Martı́, Mario Ezquerra , et al. · 2022

Background The neuropathology of Parkinson's disease (PD) associated with leucine‐rich repeat kinase 2 (LRRK2) mutations (LRRK2‐PD) is heterogeneous and varies with the type of mutation. There are only a few studies evaluating seeding aggr…

Workflows and Outcomes in Patients With Suspected Large Vessel Occlusion Stroke Triaged in Urban and Nonurban Areas Open

Álvaro García‐Tornel, Mónica Millán, Marta Rubiera, Alejandro Bustamante, Manuel Requena , et al. · 2022

Background: We aim to compare the outcome of patients from urban areas, where the referral center is able to perform thrombectomy, with patients from nonurban areas enrolled in the RACECAT trial (Direct Transfer to an Endovascular Center C…

Immunosuppressive tocilizumab prevents astrocyte induced neurotoxicity in hiPSC-LRRK2 Parkinson’s disease by targeting receptor interleukin-6 Open

Meritxell Pons‐Espinal, Lucas Blasco-Agell, Irene Fernández‐Carasa, Angelique di Domenico, Yvonne Richaud , et al. · 2022

Parkinson’s disease (PD) is associated with premature death of dopamine-producing neurons in the brain. Previous studies have shown that astrocytes of PD patients may contribute to neuronal degeneration by mechanisms involving both direct …

Increased Phospho‐AKT in Blood Cells from LRRK2 G2019S Mutation Carriers Open

Alícia Garrido, Leticia Pérez‐Sisqués, Cristina Simonet, Genís Campoy‐Campos, Júlia Solana‐Balaguer , et al. · 2022

The purpose of this study was to investigate whether differential phosphorylation states of blood markers can identify patients with LRRK2 Parkinson's disease (PD). We assessed phospho(P)‐Ser‐935‐LRRK2 and P‐Ser‐473‐AKT levels in periphera…

Elevated urine BMP phospholipids in LRRK2 and VPS35 mutation carriers with and without Parkinson’s disease Open

Sara Gomes, Alícia Garrido, Francesca Tonelli, Donina Obiang, Eduardo Tolosa , et al. · 2022

Elevated urine bis(monoacylglycerol)phosphate (BMP) levels have been found in gain-of-kinase function LRRK2 G2019S mutation carriers. Here, we have expanded urine BMP analysis to other Parkinson’s disease (PD) associated mutations and foun…

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