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Article
A metagenome-wide association study of HIV disease progression in HIV controllers
(Elsevier, 2023)
Some HIV controllers experience immunologic progression with CD4+ T cell decline. We aimed to identify genetic factors associated with CD4+ T cell lost in HIV controllers. A total of 561 HIV controllers were included, 442 ...
Article
HERC 1 Ubiquitin Ligase Mutation Affects Neocortical, CA3 Hippocampal and Spinal Cord Projection Neurons: An Ultrastructural Study
(Frontiers Media, 2016)
The spontaneous mutation tambaleante is caused by the Gly483Glu substitution in the highly conserved N terminal RCC1-like domain of the HERC1 protein, which leads to the increase of mutated protein levels responsible for ...
Article
Galectin-3 shapes toxic alpha-synuclein strains in Parkinson's disease.
(Springer, 2023)
Parkinson’s Disease (PD) is a neurodegenerative and progressive disorder characterised by intracytoplasmic inclusions called Lewy bodies (LB) and degeneration of dopaminergic neurons in the substantia nigra (SN). Aggregated ...
Article
Selective deletion of Caspase-3 gene in the dopaminergic system exhibits autistic-like behaviour
(Elsevier, 2021-01-10)
Apoptotic caspases are thought to play critical roles in elimination of excessive and non-functional synapses and removal of extra cells during early developmental stages. Hence, an impairment of this process may thus ...
Article
Inflammatory bowel disease induces pathologicalα-synucleinaggregation in the human gut and brain
(Wiley, 2024-01-16)
Aims According to Braak's hypothesis, it is plausible that Parkinson's disease (PD) originates in the enteric nervous system (ENS) and spreads to the brain through the vagus nerve. In this work, we studied whether ...
Article
HERC1 Ubiquitin Ligase Is Required for Hippocampal Learning and Memory
(Frontiers Media, 2020)
Mutations in the human HERC1 E3 ubiquitin ligase protein develop intellectual disability. The tambaleante (tbl) mouse carries a HERC1 mutation characterized by cerebellar ataxia due of adult cerebellar Purkinje cells death ...
Article
Microglial Caspase-3 is essential for modulating hippocampal neurogenesis.
(Elsevier, 2023)
Adult hippocampal neurogenesis (AHN) is a process involved in numerous neurodegenerative diseases. Many researchers have described microglia as a key component in regulating the formation and migration of new neurons ...
Article
Synaptic defects in spinal muscular atrophy animal models
(Wiley, 2011)
Proximal spinal muscular atrophy, the most frequent genetic cause of childhood lethality, is caused by homozygous loss or mutation of the SMN1 gene on human chromosome 5, which codes for the survival motor neuron (SMN) ...
Article
HERC1 Ubiquitin Ligase Is Required for Normal Axonal Myelination in the Peripheral Nervous System
(Springer, 2018-03-30)
A missense mutation in HERC1 provokes loss of cerebellar Purkinje cells, tremor, and unstable gait in tambaleante (tbl) mice. Recently, we have shown that before cerebellar degeneration takes place, the tbl mouse suffers ...
Article
Caecum OX40+CD4 T-cell subset associates with mucosal damage and key markers of disease in treated HIV-infection
(Elsevier, 2023-12)
Background Blood OX40-expressing CD4 T-cells from antiretroviral (ART)-treated people living with HIV (PWH) were found to be enriched for clonally-expanded HIV sequences, hence contributing to the HIV reservoir. OX40-OX40L ...