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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 ...
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 ...
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 ...
Cannabinoid control of hippocampal functions: thewherematters
(Wiley, 2022-04)
In the brain, hippocampal circuits are crucial for cognitive performance (e.g., memory) and deeply affected in pathological conditions (e.g., epilepsy, Alzheimer). Specialized molecular mechanisms regulate different cell ...
Cannabinoid CB2 Receptors Modulate Microglia Function and Amyloid Dynamics in a Mouse Model of Alzheimer's Disease
(Frontiers Media, 2022-04)
The distribution and roles of the cannabinoid CB2 receptor in the CNS are still a matter of debate. Recent data suggest that, in addition to its presence in microglial cells, the CB2 receptor may be also expressed at low ...
Genetically modified macrophages accelerate myelin repair
(Wiley, 2022-08-08)
[EN] Preventing neurodegeneration-associated disability progression in patients with multiple sclerosis (MS) remains an unmet therapeutic need. As remyelination prevents axonal degeneration, promoting this process in ...
The effect of early life events on glucose levels in first-episode psychosis
(Frontiers Media, 2022-12)
First episode of psychosis (FEP) patients display a wide variety of metabolic disturbances at onset, which might underlie these patients’ increased morbidity and early mortality. Glycemic abnormalities have been previously ...
Costs and effects of telerehabilitation in neurological and cardiological diseases: A systematic review
(Frontiers Media, 2022)
Introduction: Telerehabilitation in neurological and cardiological diseases is an alternative rehabilitation that improves the quality of life and health conditions of patients and enhances the accessibility to health care. ...
Cognition, inflammation and related risk factors in suicide attempts
(2022-12-14)
La conducta suicida es un problema de salud global que causa alrededor de 800.000 muertes anuales en el mundo y está asociada a discapacidad y deterioro funcional. De acuerdo al modelo de estrés-diátesis y el enfoque ...