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Pathogenic LRRK2 regulates centrosome cohesion via Rab10/RILPL1-mediated CDK5RAP2 displacement
(Cell Press, 2022-06-17)
Mutations in LRRK2 increase its kinase activity and cause Parkinson's disease. LRRK2 phosphorylates a subset of Rab proteins which allows for their binding to RILPL1. The phospho-Rab/RILPL1 interaction causes deficits in ...
Targeting Myotonic Dystrophy Type 1 with Metformin
(MDPI, 2022-03)
Myotonic dystrophy type 1 (DM1) is a multisystemic disorder of genetic origin. Progressive muscular weakness, atrophy and myotonia are its most prominent neuromuscular features, while additional clinical manifestations in ...
Gut microbiome and serum metabolome analyses identify molecular biomarkers and altered glutamate metabolism in fibromyalgia
(Elsevier, 2019-08)
Background: Fibromyalgia is a complex, relatively unknown disease characterised by chronic, widespread musculoskeletal pain. The gut-brain axis connects the gut microbiome with the brain through the enteric nervous system ...
Risk factors associated with COVID-19 infection and mortality in nursing homes
(Elsevier, 2022-10)
Objective: The aim of this paper was to analyse the association of demographic, clinical and pharmacological risk factors with the presence of SARS-COV-2 virus infection, as well as to know the variables related to mortality ...
Efficacy and safety clinical trial with efavirenz in patients diagnosed with adult Niemann-pick type C with cognitive impairment
(Wolters Kluwer Health, 2022-12)
Background:Niemann-Pick disease Type C (NPC) is a genetic, incurable, neurodegenerative disorder. This orphan disease is most frequently caused by mutations in the NPC1 protein, resulting in intralysossomal cholesterol ...
Brain fog of post-COVID-19 condition and Chronic Fatigue Syndrome, same medical disorder?
(BMC, 2022-12)
Background: Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is characterized by persistent physical and mental fatigue. The post-COVID-19 condition patients refer physical fatigue and cognitive impairment ...
Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers
(Springer, 2022-11)
Amyloid-beta 42 (Aβ42) and phosphorylated tau (pTau) levels in cerebrospinal fluid (CSF) reflect core features of the pathogenesis of Alzheimer’s disease (AD) more directly than clinical diagnosis. Initiated by the European ...
Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project
(Elsevier Science INC, 2019-10)
Introduction: Large variability among Alzheimer's disease (AD) cases might impact genetic discoveries and complicate dissection of underlying biological pathways.
Methods: Genome Research at Fundacio ACE (GR@ACE) is a ...
Shedding light on motor premanifest myotonic dystrophy type 1: A molecular, muscular and central nervous system follow-up study
(Wiley, 2023-01)
Background and purpose
Myotonic dystrophy type 1 (DM1) is a hereditary and multisystemic disease that is characterized by heterogeneous manifestations. Although muscular impairment is central to DM1, a premanifest DM1 ...
Leukocyte telomere length in patients with myotonic dystrophy type I: a pilot study
(Wiley, 2019-12)
Myotonic dystrophy type I (DM1) is an autosomal dominant disease of which clinical manifestations resemble premature aging. We evaluated the contribution of telomere length in pathogenesis in 361 DM1 patients (12 with ...