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Axonal degeneration induced by glutamate excitotoxicity is mediated by necroptosis
(COMPANY BIOLOGISTS LTD, 2018)
Neuronal excitotoxicity induced by glutamate leads to cell death and functional impairment in a variety of central nervous system pathologies. Glutamate-mediated excitotoxicity triggers neuronal apoptosis in the cell soma ...
Fishing forward and reverse: Advances in zebrafish phenomics
(ELSEVIER, 2018)
Understanding how the genome instructs the phenotypic characteristics of an organism is one of the major scientific endeavors of our time. Advances in genetics have progressively deciphered the inheritance, identity and ...
Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly
(BMJ PUBLISHING GROUP, 2018)
Background Bardet-Biedl syndrome (BBS) is a ciliopathy with extensive phenotypic variability and genetic heterogeneity. We aimed to discover the gene mutated in a consanguineous kindred with multiple cases of a BBS phenotype. ...
The inhibition of CTGF/CCN2 activity improves muscle and locomotor function in a murine ALS model
(OXFORD UNIV PRESS, 2018)
Amyotrophic lateral sclerosis (ALS) is a devastating adult-onset progressive neurodegenerative disease characterized by upper and lower motoneuron degeneration. A total of 20% of familial ALS (fALS) cases are explained by ...
Outside in: Unraveling the Role of Neuroinflammation in the Progression of Parkinson's Disease
(FRONTIERS MEDIA SA, 2018)
Neuroinflammation is one of the most important processes involved in the pathogenesis of Parkinson's disease (PD). The current concept of neuroinflammation comprises an inflammation process, which occurs in the central ...
Regulation of developing myelin sheath elongation by oligodendrocyte calcium transients in vivo
(NATURE PUBLISHING GROUP, 2018-01)
How action potentials regulate myelination by oligodendrocytes is uncertain. We show that neuronal activity raises [Ca2+](i) in developing oligodendrocytes in vivo and that myelin sheath elongation is promoted by a high ...
Axonal degeneration induced by glutamate excitotoxicity is mediated by necroptosis
(Company of Biologists Ltd, 2018)
Neuronal excitotoxicity induced by glutamate leads to cell death and functional impairment in a variety of central nervous system pathologies. Glutamate-mediated excitotoxicity triggers neuronal apoptosis in the cell soma ...
Mitochondria and Calcium Regulation as Basis of Neurodegeneration Associated With Aging
(FRONTIERS MEDIA SA, 2018)
Age is the main risk factor for the onset of neurodegenerative diseases. A decline of mitochondrial function has been observed in several age-dependent neurodegenerative diseases and may be a major contributing factor in ...
IRE1 alpha governs cytoskeleton remodelling and cell migration through a direct interaction with filamin A
(NATURE PUBLISHING GROUP, 2018)
Maintenance of endoplasmic reticulum (ER) proteostasis is controlled by a signalling network known as the unfolded protein response (UPR). Here, we identified filamin A as a major binding partner of the ER stress transducer ...
Endoplasmic reticulum stress leads to accumulation of wild-type SOD1 aggregates associated with sporadic amyotrophic lateral sclerosis
(NATL ACAD SCIENCES, 2018)
Abnormal modifications to mutant superoxide dismutase 1 (SOD1) are linked to familial amyotrophic lateral sclerosis (fALS). Misfolding of wild-type SOD1 (SOD1(WT)) is also observed in postmortem tissue of a subset of ...