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Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations
(MDPI, 2019-09-02)
Limb-girdle muscular dystrophy recessive 1 (LGMDR1), previously known as LGMD2A, is a rare disease caused by mutations in the CAPN3 gene. It is characterized by progressive weakness of shoulder, pelvic, and proximal limb ...
Characterization and pharmacological modulation of calcium handling proteins in Limb-Girdle Muscle Dystrophy type R1
(2021-01-27)
Limb-girdle muscle dystrophy type R1 (LGMDR1) is the most common form of limb-girdle muscle dystrophy, currently with no effective treatment. LGMDR1 is caused by mutations in the CAPN3 gene and is characterized by reduced ...
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 ...
SNCA genetic lowering reveals differential cognitive function of alpha-synuclein dependent on sex
(BMC, 2022-12)
Antisense oligonucleotide (ASO) therapy for neurological disease has been successful in clinical settings and its potential has generated hope for Alzheimer's disease (AD). We previously described that ablating SNCA encoding ...
Incidence of mental disorders in the general population aged 1–30 years disaggregated by gender and socioeconomic status
(Springer, 2023-01)
Purpose
The objective of this study was to estimate the incidence and age of onset of mental disorders diagnosed by gender and socioeconomic status (SES) in children, adolescents, and young adults up to 30 years of age ...
Target cell-specific plasticity rules of NMDA receptor-mediated synaptic transmission in the hippocampus
(Frontiers Media, 2023-04)
Long-term potentiation and depression of NMDA receptor-mediated synaptic transmission (NMDAR LTP/LTD) can significantly impact synapse function and information transfer in several brain areas. However, the mechanisms that ...
Exploring microglial targets in experimental multiple sclerosis
(2022-06-30)
La esclerosis múltiple (EM) es una enfermedad crónica e inflamatoria del sistema nervioso central, que provoca desmielinización y degeneración axonal. Por su parte, la microglía es la célula inmune residente en el sistema ...
Relación topográfica entre la localización subcelular de los receptores metabotrópicos de glutamato del grupo II (mGlu2/3) y del receptor cannabinoide CB1 en la región del hilus del giro dentado del ratón
(2023-03-10)
En el hipocampo, la activación de los circuitos excitatorios resonantes característicos de esta región y su capacidad de retroalimentación se han relacionado con la formación de la memoria; sin embargo, esta retroalimentación ...
Sobredosificación de benzodiazepinas en ancianos y caídas: implicaciones clínicas y económicas.
(2020-03-02)
Las Benzodiacepinas/Z son unos fármacos ampliamente utilizados en la población anciana. Las pautas de prescripción no siempre se adecúan a las recomendaciones de las guías clínicas publicadas. Las consecuencias derivadas ...
Unraveling the role of astrocytes in the onset and spread of Parkinson's Disease: Important contributors to neurodegeneration.
(2020-02-28)
La enfermedad de Parkinson (EP) se caracteriza principalmente por la presencia de inclusiones citoplasmáticas llamadas cuerpos de Lewy, cuyo principal componente es la ¿-sinucleína y la pérdida de neuronas dopaminérgicas ...