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Generation of new LGMDR1 models with CRISPR/Cas9 and studies to expand insight into the disease.
(2022-11-25)
La LGMDR1 es la forma más común de las distrofias musculares de cinturas, y está causada por mutaciones en el gen CAPN3. Este gen codifica la proteína calpaína 3, una proteasa no lisosomal que se expresa principalmente en ...
Latin American Anatomists? views on human body dissection and donation
(Elsevier, 2023-02)
Background: Studies abound regarding the views on the importance of medical students on the importance of anatomy and the dissection of human bodies, but little is known about the views of Latin American Anatomists.Methods: ...
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 ...
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 ...
Influence of ocular biometric factors on the defocus curve in an enlarged depth-of-focus intraocular lens
(Springer, 2023-03)
Background
To assess the influence of biometric measurements on the defocus curve after the implantation of enlarged depth-of-focus (EDoF) intraocular lens (IOL).
Methods
Patients who underwent cataract surgery with ...