• Origin of axonal proteins: Is the axon-schwann cell unit a functional syncytium? 

      Alvarez, Jaime [Chile. Universidad Mayor. Facultad de Ciencias]; Court, Felipe A. [Chile. Universidad Mayor. Facultad de Ciencias] (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 ...
    • Schwann cell and axon: An interlaced unit—From action potential to phenotype expression 

      Court, Felipe A. [Chile. Universidad Mayor. Center for Integrative Biology]; Alvarez, Jaime [Pontificia Universidad Católica de Chile. Millenium Nucleus for Regenerative Biology] (Facultad de Ciencias, 2016)
      Here we propose a model of a peripheral axon with a great deal of autonomy from its cell body-the autonomous axon-but with a substantial dependence on its ensheathing Schwann cell (SC), the axon-SC unit. We review evidence ...
    • Bursting the unfolded protein response accelerates axonal regeneration 

      Court, Felipe A [Chile. Universidad Mayor]; Hetz, Claudio [Estados Unidos. Harvard University] (CIENCIAS, 2016)
      Peripheral neuropathies refer to a group of conditions in which the peripheral nervous system (PNS) is damaged. These pathological state are are associated with weakness, pain, and loss of motor and sensory control. More ...
    • Injury to the nervous system: A look into the ER 

      Oñate, Maritza [Chile. Universidad Mayor]; Hetz, Claudio [Universidad de Chile]; Court, Felipe A [Chile. Universidad Mayor] (CIENCIAS, 2016)
      Injury to the central or peripheral nervous systems leads to the loss of cognitive and/or sensorimotor capabilities that still lack an effective treatment. Although injury to the nervous system involves multiple and complex ...
    • Altered potassium channel distribution and composition in myelinated axons suppresses hyperexcitability following injury 

      Richards, Natalie [Wolfson Centre for Age-Related Diseases, Kings College London, London,United Kingdom]; Schmid, Annina B. [University of Oxford, Oxford. Nuffield Department of Clinical Neurosciences]; Barroso, Alejandro [Reino Unido. Wolfson Centre for Age-Related Diseases]; Zhu, Lan [Reino Unido. Wolfson Centre for Age-Related Diseases]; Ivulic, Dinka [Pontificia Universidad Católica de Chile]; Zhu, Ning [Reino Unido. University of Oxford. Nuffield Department of Clinical Neurosciences]; Anwandter, Philipp [Pontificia Universidad Católica de Chile]; Manzoor, Bhat A. [Estados Unidos. UT Health Science Center at San Antonio] (CIENCIAS, 2016)
      Neuropathic pain following peripheral nerve injury is associated with hyperexcitability in damaged myelinated sensory axons, which begins to normalise over time. We investigated the composition and distribution of ...
    • MLN64 induces mitochondrial dysfunction associated with increased mitochondrial cholesterol content 

      Balboa E., Castro J., Pinochet M.-J., Matías N., José Sáez P., Martínez A., Álvarez A.R., Garcia-Ruiz C., Fernandez-Checa J.C., Zanlungo S.; Cancino, Gonzalo I. [Centro de Biología Integrativa, Universidad Mayor, Chile] (Elsevier BV, 2017)
      MLN64 is a late endosomal cholesterol-binding membrane protein that has been implicated in cholesterol transport from endosomal membranes to the plasma membrane and/or mitochondria, in toxin-induced resistance, and in ...
    • Axonal degeneration during aging and its functional role in neurodegenerative disorders 

      Salvadores, Natalia [Centro de Biología Integrativa, Facultad de Ciencias, Universidad Mayor, Chile]; Sanhueza, Mario [Centro de Biología Integrativa, Facultad de Ciencias, Universidad Mayor, Chile]; Manque, Patricio [Centro de Biología Integrativa, Facultad de Ciencias, Universidad Mayor, Chile]; Court, Felipe A. [Centro de Biología Integrativa, Facultad de Ciencias, Universidad Mayor, Chile] (Frontiers Media S.A., 2017)
      Aging constitutes the main risk factor for the development of neurodegenerative diseases. This represents a major health issue worldwide that is only expected to escalate due to the ever-increasing life expectancy of the ...
    • Herpes simplex virus type 1 neuronal infection perturbs golgi apparatus integrity through activation of src tyrosine kinase and Dyn-2 GTPase 

      Martin C., Leyton L., Hott M., Arancibia Y., Spichiger C., McNiven M.A., Concha M.I., Burgos P.V., Otth C.; Court, Felipe A. [Centro de Biología Integrativa, Facultad de Ciencias, Universidad Mayor, Chile] (Frontiers Media S.A., 2017)
      Herpes simplex virus type 1 (HSV-1) is a ubiquitous pathogen that establishes a latent persistent neuronal infection in humans. The pathogenic effects of repeated viral reactivation in infected neurons are still unknown. ...
    • Disulfide cross-linked multimers of TDP-43 and spinal motoneuron loss in a TDP-43A315T ALS/FTD mouse model 

      Bargsted L., Medinas D.B., Martínez Traub F., Rozas P., Muñoz N., Jerez C., Court F.A., Hetz C., Matus S.; Nassif, Melissa [Centro de Biología Integrativa, Facultad de Ciencias, Universidad Mayor, Chile]; Catenaccio, Alejandra [Centro de Biología Integrativa, Facultad de Ciencias, Universidad Mayor, Chile] (Nature Publishing Group, 2017)
      Tar DNA binding protein 43 (TDP-43) is the principal component of ubiquitinated protein inclusions present in nervous tissue of most cases of both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). ...
    • The Enigmatic Role of C9ORF72 in Autophagy 

      Nassif, Melissa [Ctr Integrat Biol, Fac Sci, Universidad Mayor, Chile]; Woehlbier, Ute [Ctr Integrat Biol, Fac Sci, Universidad Mayor, Chile]; Manque, Patricio A. [Ctr Integrat Biol, Fac Sci, Universidad Mayor, Chile] (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 ...
    • Molecular analysis of axonal-intrinsic and glial-associated co-regulation of axon degeneration 

      Catenaccio, Alejandra [Chile. Universidad Mayor. Facultad de Ciencias. Centro de Biología Integrativa]; Díaz, Paula [Chile. Universidad Mayor. Facultad de Ciencias. Centro de Biología Integrativa]; Lamont, Douglas J. [Reino Unido. University of Dundee. School of Life Sciences]; Wishart, Thomas M. [Reino Unido. University of Edinburgh. The Roslin Institute]; Hurtado, Maica Llavero [Reino Unido. University of Edinburgh. The Roslin Institute]; Court, Felipe A. [Chile. Universidad Mayor. Facultad de Ciencias. Centro de Biología Integrativa] (Chile. Universidad Mayor, 2017-11)
      Wallerian degeneration is an active program tightly associated with axonal degeneration, required for axonal regeneration and functional recovery after nerve damage. Here we provide a functional molecular foundation for ...
    • In Vitro Analysis of the Role of Schwann Cells on Axonal Degeneration and Regeneration Using Sensory Neurons from Dorsal Root Ganglia 

      López-Leal, Rodrigo [Ctr Integrat Biol, Fac Sci, Universidad Mayor, Chile]; Díaz, Paula [Ctr Integrat Biol, Fac Sci, Universidad Mayor, Chile]; Court, Felipe A. [Ctr Integrat Biol, Fac Sci, Universidad Mayor, Chile] (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 

      Gregorio, Cristian de [Ctr Integrat Biol, Fac Sci, Universidad Mayor, Chile]; Díaz, Paula [Ctr Integrat Biol, Fac Sci, Universidad Mayor, Chile]; López-Leal, Rodrigo [Ctr Integrat Biol, Fac Sci, Universidad Mayor, Chile]; Manque, Patricio [Ctr Integrat Biol, Fac Sci, Universidad Mayor, Chile]; Court, Felipe A. [Ctr Integrat Biol, Fac Sci, Universidad Mayor, Chile] (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 

      Catenaccio, Alejandra [Ctr Integrat Biol, Fac Sci, Universidad Mayor, Chile]; Court, Felipe A. [Ctr Integrat Biol, Fac Sci, Universidad Mayor, Chile] (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 

      Woehlbier, Ute [Univ Mayor, Ctr Integrat Biol, Fac Sci, Santiago, Chile]; Yildirim, Yeserin; Ouriachi, Toufik; Ouahioune, Wahiba; Balkan, Mahmut; Malik, Sajid; Tolun, Aslihan (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 

      SanMartin, Carol D. [Univ Mayor, Ctr Integrat Biol, Santiago, Chile]; Henríquez, Mauricio; Chacón, Carlos; Ponce, Daniela P.; Salech, Felipe; Rogers, Nicole K.; Behrens, María I. (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 

      Hernández, Diego E. [Univ Mayor, Fac Sci, Ctr Integrat Biol, Santiago 8580745, Chile]; Salvadores, Natalia A. [Univ Mayor, Fac Sci, Ctr Integrat Biol]; Catalán, Romina J. [Univ Mayor, Fac Sci, Ctr Integrat Biol]; Court, Felipe A. [Univ Mayor, Fac Sci, Ctr Integrat Biol]; Moya-Alvarado, Guillermo; Bronfman, Francisca C. (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 

      Letelier, Joaquín [Univ Mayor, Fac Ciencias, Ctr Integrat Biol, Santiago, Chile]; Fuentes, Ricardo; Tajer, Benjamin; Mullins, Mary C. (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 

      Woehlbier, Ute [Univ Mayor, Ctr Integrat Biol, Fac Sci, Santiago, Chile]; Bolukbasi, Esra Yildiz; Mumtaz, Sara; Afzal, Muhammad; Malik, Sajid; Tolun, Aslihan (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 

      Court, Felipe A. [Univ Mayor, Ctr Integrat Biol, Fac Sci, Santiago, Chile]; González, David; Rebolledo, Daniela L.; Correa, Lina M.; Cerpa, Waldo; Lipson, Kenneth E.; van Zundert, Brigitte; Brandan, Enrique (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 ...


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