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The Enigmatic Role of C9ORF72 in Autophagy
(FRONTIERS MEDIA SA, 2017-08-03)
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease characterized by the loss of motor neurons resulting in a progressive and irreversible muscular paralysis. Advances in large-scale genetics and ...
A dual role for Integrin alpha 6 beta 4 in modulating hereditary neuropathy with liability to pressure palsies
(WILEY, 2018-05)
Peripheral myelin protein 22 (PMP22) is a component of compact myelin in the peripheral nervous system. The amount of PMP22 in myelin is tightly regulated, and PMP22 over or under-expression cause Charcot-Marie-Tooth 1A ...
Compartmentalized necroptosis activation in excitotoxicity-induced axonal degeneration: a novel mechanism implicated in neurodegenerative disease pathology
(WOLTERS KLUWER MEDKNOW PUBLICATIONS, 2019-08)
Sin resumen.
Purification of Exosomes from Primary Schwann Cells, RNA Extraction, and Next-Generation Sequencing of Exosomal RNAs
(Humana Press, 2018)
Exosomes are small (30-150 nm) vesicles of endosomal origin secreted by most cell types. Exosomes contain proteins, lipids, and RNA species including microRNA, mRNA, rRNA, and long noncoding RNAs. The mechanisms associated ...
Teased Fiber Preparation of Myelinated Nerve Fibers from Peripheral Nerves for Vital Dye Staining and Immunofluorescence Analysis
(Humana Press, 2018)
Glial cells regulate a wide variety of neuronal functions during physiological and pathological conditions. Therefore, the study of glial cells and their association with axons is of paramount importance in order to ...
Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility
(NATURE PUBLISHING GROUP, 2018)
In affected members of a consanguineous family, a syndrome, which is concurrence of set of medical signs, is often observed and commonly assumed to have arisen from pleiotropy, i.e., the phenomenon of a single gene variant ...
Vitamin D Increases A beta 140 Plasma Levels and Protects Lymphocytes from Oxidative Death in Mild Cognitive Impairment Patients
(BENTHAM SCIENCE PUBL LTD, 2018)
Background: Mild cognitive impairment (MCI) has an increased rate of progression to dementia. Alterations of some metabolic factors, such as deficiency of vitamin D, are a risk factor for cognitive deterioration. Vitamin ...
Origin of axonal proteins: Is the axon-schwann cell unit a functional syncytium?
(CIENCIAS, 2016)
The structural homeostasis is challenging for neurons, whose axons extend up to meters in large animals, and the axoplasmic mass reaches over a thousand times that of the cell body. Thus, the protein demand may overcome ...
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 ...