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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 ...
In Vitro Analysis of the Role of Schwann Cells on Axonal Degeneration and Regeneration Using Sensory Neurons from Dorsal Root Ganglia
(Humana Press, 2018)
Sensory neurons from dorsal root ganglion efficiently regenerate after peripheral nerve injuries. These neurons are widely used as a model system to study degenerative mechanisms of the soma and axons, as well as regenerative ...
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 ...
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 ...