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Two novel mutations in theGAN gene causing giant axonal neuropathy

World Journal of Pediatrics 2018年第3期14卷 298-304页

作者： Monica Irad Normendez-Martínez Lucero Monterde-Cruz Roberto Martínez Magdalena Marquez-Harper Nayelli Esquitin-Garduno margarita valdes-flores Leonora Casas-Avila Valeria Ponce de Leon-Suarez Viktor Javier Romero-Díaz Alberto Hidalgo-Bravo Medical Specialties Hospital Boulevard Milenio 130San Carlos la Roncha37660 LeonGuanajuatoMexico Department of Gene tics National Institute of R ehabilitationAvenue Mexico-Xochimilco 28914389 Me xico CityMexico Department ofHis tology School ofMedicineAutonomous University oft heS tate ofN uevo LeonMonterreyMexico

Background Giant axonal neuropathy (GAN) is a rare neurodegenerative disease transmitted in an autosomal recessive mode. This disorder presents motor and sensitive symptoms with an onset in early childhood. Progressive neurodegeneration makes the patients wheelchair dependent by the end of the second decade of life. Affected individuals do not survive beyond the third decade of life. Molecular analysis has identified mutations in the gene GAN in patients with this disorder. This gene produces a protein called gigaxonin which is presumably involved in protein degradation via the ubiquitin-proteasome system. However, the underlying molecular mechanism is not clearly understood yet. Methods Here we present the fi rst patient from Mexico with clinical data suggesting GAN. Sequencing of the GAN gene was carried out. Changes in the nucleotide sequence were investigated for their possible impact on protein function and structure using the publicly available prediction tools PolyPhen-2 and PANTHER. Results The patient is a compound heterozygous carrying two novel mutations in the GAN gene. The sequence analy-sis revealed two missense mutations in the Kelch repeats domain. In one allele, a C>T transition was found in exon 9 at the nucleotide position 55393 (g.55393C>T). In the other allele, a transversion G>T in exon 11 at the nucleotide position 67471 (g.67471G>T) was observed. Both of the bioinformatic tools predicted that these amino acid substitutions would have a negative impact on gigaxonin's function. Conclusion This work provides useful information for health professionals and expands the spectrum of disease-causing mutations in the GAN gene and it is the first documented case in Mexican population.

关键词： GAN Genetics Giant axonal neuropathy Incapacity Neurodegenerative

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Dendritic spine degeneration:a primary mechanism in the aging process

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Neural Regeneration Research 2025年第6期20卷 1696-1698页

作者： Gonzalo flores Leonardo Aguilar-Hernández Fernado García-Dolores Humberto Nicolini Andrea Judith Vázquez-Hernández Hiram Tendilla-Beltrán Instituto de Fisiología Benemérita Universidad Autónoma de Puebla(BUAP)PueblaMexico Instituto de Ciencias Forenses(INCIFO) Tribunal Superior de Justicia de la Ciudad de México(TSJCDMX).Mexico CityMexico Instituto Nacional de Medicina Genómica(INMEGEN) Mexico CityMexico

Recent reports suggest that aging is not solely a physiological process in living beings;instead, it should be considered a pathological process or disease(Amorim et al., 2022). Consequently, this process involves a wide range of factors, spanning from genetic to environmental factors, and even includes the gut microbiome(GM)(Mayer et al., 2022). All these processes coincide at some point in the inflammatory process, oxidative stress, and apoptosis, at different degrees in various organs and systems that constitute a living organism(Mayer et al., 2022;AguilarHernández et al., 2023).

关键词： aging process stress

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Differential response of injured and healthy retinas to syngeneic and allogeneic transplantation of a clonal cell line of immortalized olfactory ensheathing glia:a double-edged sword

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Neural Regeneration Research 2025年第8期20卷 2395-2407页

作者： María Norte-Muñoz María Portela-Lomba Paloma Sobrado-Calvo Diana Simón Johnny Di Pierdomenico Alejandro Gallego-Ortega Mar Pérez JoséMCabrera-Maqueda Javier Sierra Manuel Vidal-Sanz María Teresa Moreno-flores Marta Agudo-Barriuso Grupo de Investigación Oftalmología Experimental Departamento de OftalmologíaOptometríaOtorrinolaringología y Anatomía PatológicaFacultad de MedicinaUniversidad de MurciaInstituto Murciano de Investigación Biosanitaria(IMIB)Campus de Ciencias de la SaludMurciaSpain Experimental Sciences Faculty Universidad Francisco de VitoriaPozuelo de AlarcónMadridSpain Anatomy Histology and Neuroscience DepartmentMedicine FacultyUniversidad Autónoma de MadridMadridSpain Center of Neuroimmunology Service of NeurologyLaboratory of Advanced Imaging in Neuroimmunological DiseasesHospital Clínic of BarcelonaInstitut d’Investigacions Biomèdiques August Pi i Sunyer(IDIBAPS)and Universitat de BarcelonaBarcelonaSpain Medicine Faculty Universidad Francisco de VitoriaPozuelo de AlarcónMadridSpain

Olfactory ensheathing glia promote axonal regeneration in the mammalian central nervous system,including retinal ganglion cell axonal growth through the injured optic ***,it is unknown whether olfactory ensheathing glia also have neuroprotective *** ensheathing glia express brain-derived neurotrophic factor,one of the best neuroprotectants for axotomized retinal ganglion ***,we aimed to investigate the neuroprotective capacity of olfactory ensheating glia after optic nerve *** ensheathing glia cells from an established rat immortalized clonal cell line,TEG3,were intravitreally injected in intact and axotomized retinas in syngeneic and allogeneic mode with or without microglial inhibition or immunosuppressive *** and gene expression analyses were *** bulb-derived primary olfactory ensheathing glia and TEG3 express major histocompatibility complex classⅡ*** and syngenically transplanted TEG3 cells survived in the vitreous for up to 21 days,forming an *** axotomized retinas,only the allogeneic TEG3 transplant rescued retinal ganglion cells at 7 days but not at 21 *** these retinas,microglial anatomical activation was higher than after optic nerve crush *** intact retinas,both transplants activated microglial cells and caused retinal ganglion cell death at 21 days,a loss that was higher after allotransplantation,triggered by pyroptosis and partially rescued by microglial inhibition or ***,neuroprotection of axotomized retinal ganglion cells did not improve with these *** different neuroprotective properties,different toxic effects,and different responses to microglial inhibitory treatments of olfactory ensheathing glia in the retina depending on the type of transplant highlight the importance of thorough preclinical studies to explore these variables.

关键词： cell therapy immune recognition major histocompatibility complex class II(MHCII) neuroprotection olfactory ensheathing glia retinal ganglion cells

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Hypothalamic-pituitary-adrenal axis function during perinatal depression

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Neuroscience Bulletin 2015年第3期31卷 338-350页

作者： Phillipe Leff Gelman Mónica flores-Ramos margarita López-Martínez Carlos Cruz Fuentes Juan Pablo Reyes Grajeda National Institute of Perinatology Mexico City National Council of Sciences and Technology (CONACy T) Mexico City National Institute of Psychiatry Mexico City National Institute of Genomic Medicine Mexico City

Abnormal function of the hypothalamic-pituitary-adrenal （HPA） axis is an important pathological finding in pregnant women exhibiting major depressive disorder. They show high levels of cortisol pro- inflammatory cytokines, hypothalamic-pituitary peptide hormones and catecholamines, along with low dehydroepiandrosterone levels in plasma. During pregnancy, the TH2 balance together with the immune system and placental factors play crucial roles in the development of the fetal allograft to full term. These factors, when altered, may generate a persistent dysfunction of the HPA axis that may lead to an overt transfer of cortisol and toxicity to the fetus at the expense of reduced activity of placental 1113-hydroxysteroid dehydrogenase type 2. Epigenetic modifications also may contribute to the dysregulation of the HPA axis. Affective disorders in pregnant women should be taken seriously, and therapies focused on preventing the deleterious effects of stressors should be implemented to promote the welfare of both mother and baby.

关键词： brain depression neuroendocrine pregnancy stress glucocorticoids

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Ligand effects on the structure and vibrational properties of the thiolated Au18 cluster

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Progress in Natural Science:Materials International 2016年第5期26卷 510-515页

作者： Alfredo Tlahuice-flores CICFIM-Facultad de Ciencias Físico-Matemáticas Universidad Autónoma de Nuevo León

Most of the studies devoted to thiolated gold clusters suppose that their core and Au-S framework do not suffer from distortion independently of the protecting ligands（-SR） and it is assumed as correct to simplify the ligand as SCH3. In this work is delivered a systematic study of the structure and vibrational properties（IR and Raman）of the Au18（SR）14cluster. The pursued goal is to understand the dependency of the displayed vibrational properties of the thiolated Au18cluster with the ligands type. A set of six ligands was considered during calculations of the vibrational properties based on density functional theory（DFT） and in its dispersioncorrected approach（DFT-D）.

关键词： Gold cluster Ligand effects Structure Vibration Au18(SR)14 Density functional theory

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Curcuma longa L. extract improves the cortical neural connectivity during the aging process

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Neural Regeneration Research 2017年第6期12卷 875-880页

作者： Gonzalo flores Laboratorio de Neuropsiquiatría Instituto de Fisiología Benemérita Universidad Autónoma de Puebla

Turmeric or Curcuma is a natural product that has anti-inflammatory, antioxidant and anti-apoptotic pharmacological properties. It can be used in the control of the aging process that involves oxidative stress, inflammation, and apoptosis. Aging is a physiological process that affects higher cortical and cognitive functions with a reduction in learning and memory, limited judgment and deficits in emotional control and social behavior. Moreover, aging is a major risk factor for the appearance of several disorders such as cerebrovascular disease, diabetes mellitus, and hypertension. At the brain level, the aging process alters the synaptic intercommunication by a reduction in the dendritic arbor as well as the number of the dendritic spine in the pyramidal neurons of the prefrontal cortex, hippocampus and basolateral amygdala, consequently reducing the size of these regions. The present review discusses the synaptic changes caused by the aging process and the neuroprotective role the Curcuma has through its anti-inflammatory, antioxidant and anti-apoptotic actions.

关键词： Curcuma longa cortical curcumin hippocampus synaptic antioxidant spine connectivity cortex

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A transition from a large open pit into a novel “macroblock variant” block caving geometry at Chuquicamata mine, Codelco Chile

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Journal of Rock Mechanics and Geotechnical Engineering 2019年第3期11卷 549-561页

作者： German flores Alex Catalan Newcrest Mining Ltd. Melbourne3004Australia Codelco Chile Santiago8320000Chile

With a history of more than 100 years, Chuquicamata has become one of the largest open pits in the world. Its current depth of 1100 m, length of 4500 m and width of 3000 m, resulting in haulage distances of over 11,000 m from pit bottom to the processing plant or waste dumps, with waste/ore ratio greater than 4 and much lower grades, are effectively determining its profitable limit by the end of this decade. Currently, there are over 4300 Mt of geological resources containing 0.7% of copper and 340 ppm (1 ppm = 1 g/t) of molybdenum below the final pit shell. The corresponding orebody geometry is 3000 m northsouth, 300-800 m eastwest and the drilling campaign suggested the existence of more than 900 m of mineable ore from the final pit bottom. This is in spite of the fact that the Chuquicamata orebody is still open at depth. The business case to continue with the mining of the Chuquicamata orebody is to change from the current large open pit to a novel macroblock variant block caving geometry. This requires a production rate of 140,000 t/d (50 Mt per annum), with a continuous material handling system to achieve the 7-year ramp-up to full production. The resolution of a number of known technical, operational and logistical challenges outside current industry practises which Chuquicamata will face over its projected 40-year mine life is therefore essential. These challenges include simultaneous operations of open pit and underground macroblocks and from the initial lift to the second lift, rapid ramp-up and optimum sequencing of the planned macroblocks, early dilution from the west fault and late dilution from potential slope failures, and the potential for major operational hazards. An equally important issue to be addressed is cultural given that the mining history in the northern region of Chile, which includes Chuquicamata, is predominantly open pit. This paper presents a synopsis of the main challenges that the Chuquicamata underground project will face in order t

关键词： Macroblock variant Block caving Cave propagation Early and late dilutions Intensive preconditioning Rib pillar West fault Ore buffer

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Role of N-formyl peptide receptor 2 in germinal matrix hemorrhage:an intrinsic review of a hematoma resolving pathway

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Neural Regeneration Research 2024年第2期19卷 350-354页

作者： Jerry flores Jiping Tang Department of Physiology&Pharmacology Loma Linda University School of MedicineLoma LindaCAUSA

Germinal matrix hemorrhage is one of the leading causes of morbidity,mortality,and acquired infantile hydrocephalus in preterm infants in the United States,with little progress made in its clinical *** clots have been shown to elicit secondary brain injury after germinal matrix hemorrhage,by disrupting normal cerebrospinal fluid circulation and absorption after germinal matrix hemorrhage causing post-hemorrhagic hydrocephalus *** evidence suggests that rapid hematoma resolution is necessary to improve neurological outcomes after hemorrhagic *** articles have demonstrated the beneficial effects of stimulating the polarization of microglia cells into the M2 phenotype,as it has been suggested that they play an essential role in the rapid phagocytosis of the blood clot after hemorrhagic models of stroke.N-formyl peptide receptor 2(FPR2),a G-protein-coupled receptor,has been shown to be neuroprotective after ***2 activation has been associated with the upregulation of phagocytic macrophage clearance,yet its mechanism has not been fully *** literature suggests that FPR2 may play a role in the stimulation of scavenger receptor *** receptor CD36 plays a vital role in microglia phagocytic blood clot clearance after germinal matrix ***2 has been shown to phosphorylate extracellular-signal-regulated kinase 1/2(ERK1/2),which then promotes the transcription of the dual-specificity protein phosphatase 1(DUSP1)*** this review,we present an intrinsic outline of the main components involved in FPR2 stimulation and hematoma resolution after germinal matrix hemorrhage.

关键词： AnxA1 FPR2 GMH hematoma resolution hemorrhagic stroke M1 M2 microglia polarization microglia phagocytosis

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Effect of magnesium on the aluminothermic reduction rate of zinc oxide obtained from spent alkaline battery anodes for the preparation of Al–Zn–Mg alloys

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International Journal of Minerals,Metallurgy and Materials 2016年第4期23卷 458-465页

作者： Rocio Ochoa Alfredo flores Jesus Torres Cinvestav-Saltillo

The aluminothermic reduction of zinc oxide（ZnO） from alkaline battery anodes using molten Al may be a good option for the elaboration of secondary 7000-series alloys. This process is affected by the initial content of Mg within molten Al, which decreases the surface tension of the molten metal and conversely increases the wettability of ZnO particles. The effect of initial Mg concentration on the aluminothermic reduction rate of ZnO was analyzed at the following values： 0.90wt%, 1.20wt%, 4.00t%, 4.25wt%, and 4.40wt%. The ZnO particles were incorporated by mechanical agitation using a graphite paddle inside a bath of molten Al maintained at a constant temperature of 1123 K and at a constant agitation speed of 250 r/min, the treatment time was 240 min and the ZnO particle size was 450？500 mesh. The results show an increase in Zn concentration in the prepared alloys up to 5.43wt% for the highest initial concentration of Mg. The reaction products obtained were characterized by scanning electron microscopy and X-ray diffraction, and the efficiency of the reaction was measured on the basis of the different concentrations of Mg studied.

关键词： aluminothermic reduction alkaline batteries zinc oxide waste utilization aluminum zinc magnesium alloys

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Comparison between type-2 and type-1 myocardial infarction：clinical features, treatment strategies and outcomes

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Journal of Geriatric Cardiology 2016年第1期13卷 15-22页

作者： Angel Lopez-Cuenca Miriam Gomez-Molina Pedro J flores-Blanco Marianela Sanchez-Martinez Andrea Garcia-Narbon Ignacio De Las Heras-Gomez Maria J Sainchez-Galian Esther Guerrero-Perez Mariano valdes Sergio Manzano-Femandez Department of Internal Medicine Hospital de la Vega Lorenzo Guirao Cieza Spain Division of Cardiology University Hospital Virgen de la Arrixaca School of Medicine IMIB Murcia Spain Department of Biochemistry University Hospital Virgen de la Arrixaca School of Medicine IMIB Murcia Spain Department of lnternal Medicine University of Murcia Murcia Spain

Objective To assess the differences in incidence, clinical features, current treatment strategies and outcome in patients with type-2vs. type-1 acute myocardial infarction （AMI）.Methods We included 824 consecutive patients with a diagnosis of type-1 or type-2 AMI. Dur-ing index hospitalization, clinical features and treatment strategies were collected in detail. At 1-year follow-up, mortality, stroke, non-fatal myocardial infarction and major bleeding were ***-1 AMI was present in 707 （86%） of the cases while 117 （14%） were classified as type-2. Patients with type-2 AMI were more frequently female and had higher co-morbidities such as diabetes, previous non-ST segment elevation acute coronary syndromes, impaired renal function, anaemia, atrial fibrillation and malignancy. However, preserved left ventricular ejection fraction and normal coronary arteries were more frequently seen, an invasive treatment was less common, and anti-platelet medications, statins and beta-blockers were less prescribed in patients with type-2 AMI. At 1-year follow-up, type-2 AMI was associated with a higher crude mortality risk （HR： 1.75, 95% CI： 1.14-2.68;P = 0.001）, but this association did not remain significant after multivariable adjustment （P = 0.785）. Furthermore, we did not find type-2 AMI to be associated with other clinical *** In this real-life population, compared with type-1, type-2 AMI were predominantly women and had more co-morbidities. Invasive treatment strategies and cardioprotective medications were less used in type-2, while the 1-year clinical outcomes were similar.

关键词： Coronary vessels Follow-up studies Myocardial infarction

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