Man

Silvana Zanlungo Matsuhiro

Full Professor

Pontificia Universidad Católica de Chile

Santiago, Chile

Líneas de Investigación


She has been exploring the cellular and molecular bases of Niemann-Pick type A, B and C (NPA, NPB and NPC) and Gaucher lipid storage lysosomal diseases and searching for new therapeutic targets involved in hepatic damage and neurodegeneration.

Educación

  •  Biological Sciences, PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE. Chile, 1997
  •  Biochemistry, PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE. Chile, 1991

Experiencia Académica

  •   Associate Researcher Full Time

    Associate Researcher

    Medicine

    Santiago, Chile

    1997 - 2001

  •   Assistant Professor Full Time

    Assistant Professor

    Medicine

    Santiago, Chile

    2001 - 2007

  •   Associate Professor Full Time

    Associate Professor

    Medicine

    Santiago, Chile

    2007 - 2017

  •   Full Professor Full Time

    PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE

    Medicine

    Santiago, Chile

    2017 - At present

Experiencia Profesional

  •   Profesor Titular Full Time

    Pontificia Universidad Católica de Chile

    Santiago, Chile

    2017 - At present

  •   Directora de Desarrollo Académico Other

    Pontificia Universidad Católica de Chile

    Santiago, Chile

    2018 - At present

  •   Directora de Equidad de Género Other

    Pontificia Universidad Católica de Chile

    Santiago, Chile

    2019 - At present

Formación de Capital Humano


Undergraduate thesis supervision

1 Klein, Andrés.
Title: "Analysis of hepatic expression of NPC2 and its possible role in the hepatic metabolism of cholesterol".
Institution: PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE, Bachelor, 2004
2 Judith, Mariela. Co-direction of thesis. Director: Attilio Rigotti (Medicine Faculty, PUC)
Title: "Post-transcriptional regulation of hepatic HDL receptor SR-BI expression in mice".
Institution: PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE, Bachelor, 2007
3 Tichauer, Juan.
Title: "Analysis of the possible role of mln64 by hepatic overexpression models".
Institution: PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE, Bachelor, 2006
4 Balboa, Elisa
Title: "Relevance of NPC2 protein in hepatic cholesterol metabolism and its secretion to bile",
Institution: PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE, Bachelor, 2009
5 Galdames, Leopoldo.
Title: "Effect of overexpression of NPC2 and MLN64 proteins on CHO cells".
Institution: PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE, Bachelor, 2010
6 Robledo, Fermín
Title: "Analysis of oxidative stress markers in in vivo and in vitro models of Niemann-Pick type C disease".
Institution: PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE, Bachelor, 2010
7 Yévenes, Fernanda. In co-tutoring with Alejandra Alvarez (Faculty of Biological Sciences, PUC).
Title: "Alterations in intracellular vitamin E trafficking in Niemann-Pick type C disease models".
Institution: PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE, Bachelor, 2011
8 Acuña, Mariana.
Title: "Characterization of transgenic mice of NPC2 protein: effect of hepatic overexpression of NPC2 on cholesterol homeostasis and biliary lithiasis"
Institution: PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE, Bachelor, 2011
9 González, Lila.
Title: "Effect of wild-type NPC2 proteins and mutants on cholesterol crystallization in bile model".
Institution: PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE, Bachelor, 2012
10 Pinochet, María josé
Title: "Effect of overexpression of MLN64 protein on cholesterol content, mitochondrial function and oxidative stress in hepatocytes".
Institution: UNIVERSIDAD DE LA FRONTERA, Bachelor, 2013
11. María José Pérez
Title: “Characterization of oxidative damage and its temporary relationship with inflammation, fibrosis, and apoptosis in the liver of the mice model of Niemann-Pick type C.”
Institution: PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE, Bachelor, 2015
12. Sofía Fajardo Callejó.
Title: "New TFEB regulation pathway through c-Abl as a common therapeutic target for Niemann Pick Type A and other sphingolipidoses".
Institution: PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE, Research Seminar BIO296.
13. José Miguel Rosa Arancibia.
Institution: PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE, Bachelor 2023
14. Antonio Daniel Moreno Torres
Title: “Identification of TFEB tyrosines phosphorylated by c-Abl kinase and its role in Niemann Pick disease type C.””.
Institution: PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE, Bachelor, 2023

Ph.D. thesis supervision

1 Bravo, Ignacio.
Title: "Determinants of lipoprotein metabolism and generation of Lipoprotein X in extrahepatic obstructive cholestasis".
Institution: PONTIFICIA UNIVERSIDAD CATHOLICA DE CHILE, PhD, 2005
2 Klein, Andrés. In co-tutoring with Alejandra Alvarez (Faculty of Biological Sciences, PUC).
Title: "Activation of the c-Abl / p73 signal transduction system in Niemann-Pick type C disease".
Institution: PONTIFICIA UNIVERSIDAD CATHOLICA DE CHILE, PhD, 2008
3 Argüello, Gabriela. Co-tutor. Thesis director: Mauricio González (INTA, U. de Chile)
Title: "Effect of dietary copper supply on metal homeostasis in mice in Niemann-Pick Type C mice".
Institution: UNIVERSIDAD DE CHILE, PhD, 2014
4 Balboa, Elisa
Title: "Relevance of mitochondrial dysfunction in oxidative damage and,"
Institution: PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE, PhD, 2015
5 Yáñez, María José. In co-tutoring. Thesis director: Alejandra Álvarez (Fac. Cs. Biológicas, PUC).
Title: "Modulation of APP processing by c-Abl kinase and its implication in Niemann-Pick type C disease".
Institution: PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE, PhD, 2015
6 Acuña, Mariana.
Title: "The A359D mutation in the enzyme acid sphingomyelinase causing Niemann Pick disease type B: genetic, biochemical study and its implication in hepatic fibrosis",
Institution: PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE, PhD, 2015
7. Contreras, Pablo.
Title: "Tyrosine kinase ABL inhibition activates TFEB and promotes cellular clearance in Niemann-Pick C disease"
Institution: Pontificia Universidad Católica de Chile, PhD, 2019. Thesis director: Alejandra Alvarez (Biological Sciences Faculty, UC). Co-tutor: Silvana Zanlungo. 2019.
8. Oyarzún, Juan Esteban.
Title: "Analysis and modulation of Cathepsins B and D in hepatic fibrosis in in vitro and in vivo Niemann-Pick C models"
Institution: PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE, PhD, 2019
9. Marín, Tamara
Title: "c-Abl kinase in Niemann Pick type a disease : its implication in the pathogenic mechanisms leading to autophagic flux alterations and neurodegeneration".
Institution: PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE, PhD, 2020. Co-tutor: Alejandra Alvarez.
10. Lagos, Jonathan
Title: Regulation of autophagy by inflammatory signs and its impact on the presentation of antigens in lymphocytes B.
Institution: Pontificia Universidad Católica de Chile, PhD, 2021. Thesis director: María Isabel Yuseff (Biological Sciences Faculty, UC). Co-tutor: Silvana Zanlungo. 2021.

Postdoctoral Training:
1Mary Carmen Vázquez (PhD). Pontificia Universidad Católica de Chile. 2009-2012. Fondecyt Grant 3100026 "Alterations of copper trafficking in Niemann-Pick C disease"

2 Graciela Arguello (PhD).Pontificia Universidad Católica de Chile. 2015-2018. Fondecyt Grant 1501919. “Effect of activation of the transcription factor TFEB in lysosomal function and autophagy and the progression of Niemann-Pick C disease”

3 Pablo Tapia (PhD). Postdoctorate Fondef D10E1077 . 2019. Preclinical studies of new inhibitors of c-Abl kinase for the treatment of Alzheimer's disease. Alvarez A (Director) and Zanlungo S (co-director).

4 María José Yáñez (PhD). Pontificia Universidad Católica de Chile. 2017-2020. Fondecyt Grant 3170710. Relevance of the c-Abl kinase in Gaucher disease neuropathology: cross talk with the necroapoptotic RIPK3 signaling pathway.

5 Miguel Guerra (PhD). Pontificia Universidad Católica de Chile. 2024-2027. Fondecyt Grant 3240189. Disminución de la neurogénesis hipocampal adulta en la enfermedad de Niemann-Pick tipo A: Contribución de la tirosina quinasa c-Abl.


Difusión y Transferencia


Regarding outreach, I have been able to disseminate the results of our research in the written press (interviews in Mercurio, section Science and Technology of January 15, 2009 and La Tercera, Trends section of June 29, 2015) and on television (TVN interview 24 hours on June 10, 2015 and Megavision interview in Meganoticias on January 2019)

In relation to academic management, I have contributed to the work of my Department since 2005 as Head of Research, and also to the School of Medicine as the first Chair of the Committee on Bioethics of Laboratory Animal Welfare (CEBA) between 2008 and 2009, Deputy Director of Research between August 2009 and July 2010 and from September 2014 to June 2016 and as Deputy Director of the PhD Medical Sciences Program from the School of Medicine, UC from July 2016 to April 2018.

I have also been able to contribute to other institutions in our country. I worked as a member and Director of the Fondecyt G1 Medicine Study Group between 2009 and 2013 and 2010 to 2013, respectively.


Premios y Distinciones

  •   Best Cell/Molecular Biology Doctoral Thesis Award

    Fundación Chilena para Biología Celular

    Chile, 1997

    Annual award given to the best doctoral thesis in the area of Cell and Molecular Biology

  •   Special Distinction to the Best Chilean Doctoral Thesis

    ACADEMIA CHILENA DE CIENCIAS

    Chile, 1997

    Annual award given to Chilean Sciences PhD thesis. This is a Special Distintion

  •   Concurso de Patentamiento 2008

    PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE

    Chile, 2008

    Annual award to the best patent presented by academics from the P.Universidad Católica de Chile. The title of the invention is: Use of imatinib mesylate for the treatment of Niemann-Pick type C (NPC)

  •   Best Researcher 2013

    PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE

    Chile, 2014

    Annual recognition for researchers from the Faculty of Medicine for the work in the area of scientific research

  •   PLENARY LECTURE “LUIS IZQUIERDO FERNANDEZ” SOCIEDAD DE BIOLOGIA CELULAR DE CHILE

    Sociedad de Biología Celular de Chile

    Chile, 2019

    Recognition given to outstanding careers in the area of Cell Biology in Chile during the annual meeting. The person who receives this distinction holds a plenary conference The title of my conference was "The lysosome beyond a recycling center: a biomedical perspective of cell sustainability".

  •   Presidenta

    Sociedad de Biología Celular de Chile

    Chile, 2023

    The Sociedad de Biología Celular de Chile (SBCCH, Chilean Society for Cell Biology) is a nonprofit membership organization of researchers studying the cell. The Society’s objectives are to advance and develop the discipline of cell biology in Chile and to provide a forum to promote research and education in biology and biomedical sciences. The SBCCH is open to all scientists, students, teachers, and technicians from universities and research institutions interested in cell biology and associated disciplines.


 

Article (76)

A Mouse Systems Genetics Approach Reveals Common and Uncommon Genetic Modifiers of Hepatic Lysosomal Enzyme Activities and Glycosphingolipids
c-Abl kinase at the crossroads of healthy synaptic remodeling and synaptic dysfunction in neurodegenerative diseases
c-Abl Phosphorylates MFN2 to Regulate Mitochondrial Morphology in Cells under Endoplasmic Reticulum and Oxidative Stress, Impacting Cell Survival and Neurodegeneration
c-Abl tyrosine kinase down-regulation as target for memory improvement in Alzheimer's disease
Autophagy Induced by Toll-like Receptor Ligands Regulates Antigen Extraction and Presentation by B Cells
c-Abl Activation Linked to Autophagy-Lysosomal Dysfunction Contributes to Neurological Impairment in Niemann-Pick Type A Disease
Cell compartments and intracellular trafficking of lipids and proteins: Impact on biomedicine
Neuronopathic Gaucher disease: Beyond lysosomal dysfunction
Alterations in Lysosome Homeostasis in Lipid-Related Disorders: Impact on Metabolic Tissues and Immune Cells
c-Abl activates RIPK3 signaling in Gaucher disease
Genistein Activates Transcription Factor EB and Corrects Niemann-Pick C Phenotype
Genistein Activates Transcription Factor EB and Corrects Niemann–Pick C Phenotype
Identification of genetic modifiers of murine hepatic beta-glucocerebrosidase activity
Lack of Annexin A6 Exacerbates Liver Dysfunction and Reduces Lifespan of Niemann-Pick Type C Protein–Deficient Mice
Proteomic Analysis of Niemann-Pick Type C Hepatocytes Reveals Potential Therapeutic Targets for Liver Damage
c-Abl Inhibition Activates TFEB and Promotes Cellular Clearance in a Lysosomal Disorder
Complement Component C3 Participates in Early Stages of Niemann-Pick C Mouse Liver Damage
Finding pathogenic commonalities between Niemann-Pick type C and other lysosomal storage disorders: Opportunities for shared therapeutic interventions
Lysosome motility and distribution: Relevance in health and disease
Amyloid-β oligomers synaptotoxicity: The emerging role of EphA4/c-Abl signaling in Alzheimer's disease.
Gadolinium Chloride Rescues Niemann⁻Pick Type C Liver Damage
Mitochondrial GSH replenishment as a potential therapeutic approach for Niemann Pick type C disease
MLN64 induces mitochondrial dysfunction associated with increased mitochondrial cholesterol content
c-Abl links APP-BACE1 interaction promoting APP amyloidogenic processing in Niemann-Pick type C disease
Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B
Neuronal gene repression in Niemann-Pick type C models is mediated by the c-Abl/HDAC2 signaling pathway
Reduction of Blood Amyloid-beta Oligomers in Alzheimer's Disease Transgenic Mice by c-Abl Kinase Inhibition
Structural and functional analysis of the ASM p.Ala359Asp mutant that causes acid sphingomyelinase deficiency
Transgenic overexpression of Niemann-Pick C2 protein promotes cholesterol gallstone formation in mice
Metabolic Effects of Cholecystectomy: Gallbladder Ablation Increases Basal Metabolic Rate through G-Protein Coupled Bile Acid Receptor Gpbar1-Dependent Mechanisms in Mice
c-Abl Stabilizes HDAC2 Levels by Tyrosine Phosphorylation Repressing Neuronal Gene Expression in Alzheimer's Disease
Hepatic metabolic response to restricted copper intake in a Niemann-Pick C murine model
Spermatozoa from mice deficient in Niemann-Pick disease type C2 (NPC2) protein have defective cholesterol content and reduced in vitro fertilizing ability
The unique case of the Niemann-Pick type C cholesterol storage disorder
Vitamin E Dietary Supplementation Improves Neurological Symptoms and Decreases c-Abl/p73 Activation in Niemann-Pick C Mice
Disruption in Connexin-Based Communication Is Associated with Intracellular Ca2+ Signal Alterations in Astrocytes from Niemann-Pick Type C Mice
Cholinergic Abnormalities, Endosomal Alterations and Up-Regulation of Nerve Growth Factor Signaling in Niemann-Pick Type C Disease
Increased copper levels in in vitro and in vivo models of Niemann-Pick C disease
Lysosomal vitamin E accumulation in Niemann-Pick type C disease
Niemann-Pick C2 Protein Expression Regulates Lithogenic Diet-Induced Gallstone Formation and Dietary Cholesterol Metabolism in Mice
Alteration of Gene Expression Profile in Niemann-Pick Type C Mice Correlates with Tissue Damage and Oxidative Stress
Apolipoprotein A-I deficiency does not affect biliary lipid secretion and gallstone formation in mice
C-Abl tyrosine kinase signaling: a new player in AD tau pathology
Cholecystectomy increases hepatic triglyceride content and very-low-density lipoproteins production in mice
Lack of Activation of the Unfolded Protein Response in Mouse and Cellular Models of Niemann-Pick Type C Disease
Npc1 deficiency in the C57BL/6J genetic background enhances Niemann-Pick disease type C spleen pathology
Oxidative stress activates the c-Abl/p73 proapoptotic pathway in Niemann-Pick type C neurons
Deficiency of Niemann-Pick C1 protein protects against diet-induced gallstone formation in mice
Female infertility due to anovulation and defective steroidogenesis in NPC2 deficient mice
Fecal bile acid excretion and messenger RNA expression levels of ileal transporters in high risk gallstone patients
A New Twist in the Cholesterol Metabolism-Based Enterohepatic Connection
Imatinib therapy blocks cerebellar apoptosis and improves neurological symptoms in a mouse model of Niemann-Pick type C disease
Insulin and cholesterol gallstones: New insights for a complex pathogenic relationship
Adenovirus-mediated hepatic syndecan-1 overexpression induces hepatocyte proliferation and hyperlipidaemia in mice
Increased activity of hepatic microsomal triglyceride transfer protein and bile acid synthesis in gallstone disease
Overexpression of the cholesterol-binding protein MLN64 induces liver damage in the mouse
P450 CYP2C epoxygenase and CYP4A ?-hydroxylase mediate ciprofibrate-induced PPAR?-dependent peroxisomal proliferation
Role of plasma and liver cholesterol- and lipoprotein-metabolism determinants in LpX formation in the mouse
Effects of hepatic expression of the high-density lipoprotein receptor SR-BI on lipoprotein metabolism and female fertility
Inactivation of hepatic microsomal triglyceride transfer protein protects mice from diet-induced gallstones
NPC2 is expressed in human and murine liver and secreted into bile: Potential implications for body cholesterol homeostasis
Biliary lipid secretion, bile acid metabolism, and gallstone formation are not impaired in hepatic lipase-deficient mice
DISCOVERY OF THE HEPATIC CANALICULAR AND INTESTINAL CHOLESTEROL TRANSPORTERS. NEW TARGETS FOR TREATMENT OF HYPERCHOLESTEROLEMIA
Hepatic overexpression of caveolins increases bile salt secretion in mice
Hepatic overexpression of sterol carrier protein-2 inhibits VLDL production and reciprocally enhances biliary lipid secretion
Relevance of Niemann-Pick type C1 protein expression in controlling plasma cholesterol and biliary lipid secretion in mice
The ACAT2 gene encodes a gatekeeper of intestinal cholesterol absorption that regulates cholesterolemia and gallstone disease.
Identification of the RPS10 polypeptide encoded by the mitochondrial genome in Solanum tuberosum: translation initiates at a genomic-encoded AUG and not at a conserved AUG codon created by RNA editing
Impaired biliary cholesterol secretion and decreased gallstone formation in apolipoprotein E-deficient mice fed a high-cholesterol diet
Sterol carrier protein 2 gene transfer changes lipid metabolism and enterohepatic sterol circulation in mice
Transfer of the mitochondrial rps10 gene to the nucleus in rice: acquisition of the 5 ' untranslated region followed by gene duplication
Enrichment of canalicular membrane with cholesterol and sphingomyelin prevents bile salt-induced hepatic damage
MOLECULAR MEDICINE - PRESENT AND FUTURE
MOLECULAR-BIOLOGY AND MEDICINE - BASIC CONCEPTS
Risk factors and pathogenesis of cholesterol gallstones: State of the art
The rpl5-rps14-cob gene arrangement in Solanum tuberosum: rps14 is a transcribed and unedited pseudogene

Abstract (3)

DEFICIENCY OF NIEMANN-PICK C1 PROTEIN EXPRESSION PROTECTS AGAINST DIET-INDUCED GALLSTONE FORMATION IN MICE
Increased plasma lipoprotein cholesterol levels and impaired biliary lipid secretion in mice with loss of function of Niemann-Pick C1 protein
Overexpression of sterol carrier protein-2 in mice leads to increased hepatic cholesterol content and enterohepatic circulation of bile acids.

BookSection (1)

Metabolismo de ácidos grasos y triglicéridos

EditorialMaterial (2)

STARTing to understand MLN64 function in cholesterol transport
The old enigma of diets, oils, and stones

Letter (2)

Changes in bile acid synthesis in gallstone disease: Cause, consequence, or neither? - Reply
HDL receptor SR-BI and cholesterol gallstones

Patent (2)

c-Abl tyrosine kinase inhibitory compound embodiments and methods of making and using the same
Use of derivatives of 2-azetidinones for the prevention or treatment of gallstone disease

Proyecto (41)

Enhanced contacts between lysosome and mitochondria as a key pathogenic pathway in neuronopathic Gaucher Disease
International Network for the Study of Lysosomal Dysfunction in Neurodegenerative Diseases.
New microalgal source optimized for production of supplement enriched in omega-3 and antioxidants: validation in animal models and human studies.
Preclinical studies of the c-Abl kinase inhibitor Neurotinib for the treatment of Epilepsy.
Abl kinases at crossroads of healthy synaptic remodeling and synaptic dysfunction in neurodegenerative diseases
DISCOVERY OF A NOVEL TFEB REGULATION PATHWAY BY THE C-ABL KINASE REVEALS A COMMON THERAPEUTIC APPROACH FOR SPHINGOLIPIDOSIS
Discovery of a Novel TFEB Regulation Pathway by the c-Abl Kinase Reveals a Common Therapeutic Approach for Sphingolipidosis
Genetic and Small Molecule Modifiers of Lysosomal Function
Identification of c-Abl inhibitors for the potential treatment of Alzheimer Disease.
LysoMod=> Genetic and Small Molecule Modifiers of Lysosomal
Nilotinib promotes TFEB translocation to the nucleus: A new therapeutic strategy for Niemann-Pick C disease
Nilotinib promotes TFEB translocation to the nucleus=> A new therapeutic strategy for Niemann-Pick C disease
RELEVANCE OF THE C-ABL KINASE IN GAUCHER DISEASE NEUROPATHOLOGY=> CROSS TALK WITH THE NECROAPOPTOTIC RIPK3 SIGNALING PATHWAY.
Lysoshead=> Lysosomes in Health and Disease
Preclinical studies of new inhibitors of c-Abl kinase for the treatment of Alzheimer's disease.
EFECTO DE LA ACTIVACIÓN DEL FACTOR DE TRANSCRIPCIÓN TFEB EN LA FUNCIÓN LISOSOMAL Y LA AUTOFAGIA, Y EN LA PROGRESIÓN DE LA ENFERMEDAD DE NIEMANN-PICK C.
Searching for Common Pathogenic Pathways leading to Neuronal and Hepatic Damage in Niemann-Pick Diseases
Searching for Common Pathogenic Pathways leading to Neuronal and Hepatic Damage in Niemann-Pick Diseases
EFFECT OF CHOLECYSTECTOMY ON SERUM TRIGLYCERIDE AND HEPATIC FAT LEVELS IN WOMEN AND THE DEVELOPMENT OF NONALCOHOLIC FATTY LIVER DISEASE IN MICE.
THE SYNAPTIC C-ABL KINASE REGULATES SYNAPTIC PLASTICITY IN ADULT BRAIN. ITS DYSREGULATION IS INVOLVED IN SYNAPTIC LOSS IN ALZHEIMER DISEASE.
EXPLORING NEW PATHOPHYSIOLOGICAL PATHWAYS IN NONALCOHOLIC FATTY LIVER DISEASE
Identificación de inhibidores de la quinasa c-Abl para el potencial tratamiento de la enfermedad de Alzheimer
RELEVANCE OF OXIDATIVE DAMAGE DUE TO MITOCHONDRIAL DYSFUNCTION oND/OR DECREASED ANTIOXIDANT DEFENSES IN THE PATHOGENESIS OF NIEMANN PICK TYPE C DISEASE
FONDAP Regulación del Genoma
ROLE OF THE GALLBLADDER IN THE REGULATION OF HEPATIC TRIGLYCERIDE METABOLISM=> IMPLICATIONS FOR THE PATHOGENESIS OF NON-ALCOHOLIC FATTY LIVER DISEASE.
ALTERACIONES DEL TRAFICO DE COBRE EN LA ENFERMEDAD DE NIEMANN-PICK TIPO C
ALTERACION DEL CITOESQUELETO NEURONAL Y PERDIDA DE LA SINAPSIS EN LA NEURODEGENERACION=> FUNCION DE LA VIA DE SEÑALIZACION C-ABL / P73
ALTERACIONES DEL METABOLISMO HEPATICO DEL COLESTEROL Y ACIDOS BILIARES EN LA PATOGENIA DE LA COLETIASIS.
RELEVANCIA DE LAS PROTEINAS NIEMANN PICK C EN FISIOLOGIA Y FISIOPATOLOGIA.
The pro-apoptotic c-Abl kinase as a therapeutic target for Niemann Pick type C disease
Signaling pathways leading to neuronal death in NPC=> finding new therapeutic targets
Signaling pathways leading to neuronal death in NPC
Signaling pathways leading to neuronal death in NPC
IMPORTANCIA DE MOLECULAS INVOLUCRADAS EN EL METABOLISMO LIPOPROTEICO HEPATICO COMO DETERMINANTES DE LA SECRECION BILIAR DE COLESTEROL Y DEL DESARROLLO DE LITIASIS BILIAR
ROLE OF NPC2 AND MLN64 PROTEINS IN INTRACELLULAR CHOLESTEROL TRAFFICKING AND IN THE DESTINATION OF LIPOPROTEIN CHOLESTEROL TO BILIARY SECRETION
ROLE OF NPC1 PROTEIN IN THE DESTINATION OF LIPOPROTEIN CHOLESTEROL TO THE BILIARY SECRETION
ROL DEL METABOLISMO DE COLESTEROL LIPOPROTEICO Y DE LA PRESENCIA DE CAVEOLAS Y CAVEOLITAS EN EL HIGADO, SOBRE EL CONTROL DE LA DISPONIBILIDAD Y EL TRAFICO INTRAHEPATOCITARIO DE COLESTEROL DESTINADO A SECRECION BILIAR.
ROL DEL METABOLISMO HEPATICO DE LAS LIPOPROTEINAS DE ALTA DENSIDAD (HDL) EN LA SECRECION BILIAR DE COLESTEROL Y EN LA PATOGENIA DE LA COLELITIASIS
PATOLOGIA MOLECULAR DE LA FORMACION DE CALCULOS VESICULARES DE COLESTEROL Y ROL DE LA PROTEINA SCP-2 EN EL TRANSPORTE Y SECRECION HEPATICA DE COLESTEROL.
ESTUDIO DE LA EXPRESION DEL GENOMA MITOCONDRIAL DE SOLANUM TUBEROSUM
ALTERATION OF NEURONAL CYTOSKELETON AND LOSS OF SYNAPSIS IN NEURODEGENERATION: FUNCTION OF THE C-ABL / P73 SIGNALING PATHWAY

Review (10)

Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine
Recent insights on the role of cholesterol in non-alcoholic fatty liver disease
Oxidative Stress: A Pathogenic Mechanism for Niemann-Pick Type C Disease
Abnormalities of lipid metabolism, gallstone disease and gallbladder function
El síndrome metabólico: De factor agravante a principal factor de riesgo patogénico en diversas enfermedades crónicas
The metabolic syndrome: From an aggravating condition to a pathogenic risk factor for chronic diseases
Determinants of transhepatic cholesterol flux and their relevance for gallstone formation
Diet as a risk factor for cholesterol gallstone disease
Hepatic cholesterol transport from plasma into bile: implications for gallstone disease
The molecular and metabolic basis of biliary cholesterol secretion and gallstone disease
139
Silvana Zanlungo

Full Professor

Gastroenterology

Pontificia Universidad Católica de Chile

Santiago, Chile

50
Attilio Rigotti

Full Professor

Nutrition, Diabetes and Metabolism

PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE - ESCUELA DE MEDICINA - DEPTO DE GASTROENTEROLOGÍA

Santiago, Chile

50
Juan Miquel

Full Professor

Gastroenterology

PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE

Santiago, Chile

29
Attilio Rigotti

Full Professor

Nutrition, Diabetes and Metabolism

Pontificia Universidad Católica de Chile

Santiago, Chile

19
Alejandra Alvarez

Full professor

Cell and Molecular Biology

PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE, FACULTAD DE CIENCIAS BIOLÓGICAS

Santiago, Chile

12
ANDRES KLEIN

Assistant Professor/Director (Head) Center for Genetics and Genomics; Director, PhD Program in Sciences and Innovation in Medicine

Centro de Genética y Genómica

Universidad del Desarrollo-Clínica Alemana

SANTIAGO, Chile

12
ELISA BALBOA

Académico Investigador

Facultad de Medicina

Universidad Finis Terrae

SANTIAGO, Chile

10
MARCO ARRESE

FULL PROFESSOR

GASTROENTEROLOGY

PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE

Santiago, Chile

8
Maria Yañez

Profesor Asistente

Universidad San Sebastián

Santiago, Chile

5
Mauricio Gonzalez

Profesor Titular

INTA

UNIVERSIDAD DE CHILE - INSTITUTO DE NUTRICION Y TECNOLOGIA DE ALIMENTOS

Santiago, Chile

5
Gonzalo Cancino

Assistant Professor

Faculty of Biological Sciences

Pontificia Universidad Católica de Chile

Santiago, Chile

4
Tamara Marín

PhD en Ciencias médicas

Gastroenterología

Pontificia Universidad Católica de Chile

Santiago, Chile

4
Dolores Busso

Associate Professor

Centro de Investigación e Innovación Biomédica

Universidad de Los Andes

Santiago, Chile

3
Macarena Las Heras

Investigadora postdoctoral

Facultad de Química y Biología

Universidad de Santiago de Chile

Santiago, Chile

3
Victor Cortes

Associate professor

Nutrition, Diabetes and Metabolism

Pontificia Universidad Católica de Chile

Santiago, Chile

3
GRACIELA ARGÜELLO

Académico

Universidad Católica del Maule

Curicó, Chile

2
Alexis Martinez

Investigador postdoctoral senior

Facultad de medicina

Instituto de Neurcoeincia Biomedica

Santiago, Chile

2
PATRICIA BURGOS

Associate Professor Programa de Doctorado en Biología Celular y Biomedicina CEBICEM

UNIVERSIDAD SAN SEBASTIÁN

Santiago, Chile

2
Hegaly Mendoza

Académico

Universidad Andrés Bello

Santiago, Chile

2
Maria-Isabel Yuseff

Associate Professor

Cellular and Molecular Biology

Pontificia Universidad Católica de Chile

Santiago, Chile

2
Maria Holuigue

Fundadora

Fundación Cienciarte

Santiago, Chile

2
Nibaldo Inestrosa

Full Professor

PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE

Santiago, Chile

2
PABLO TAPIA

Investigador postdoctoral

Centro de Biología Celular y Biomedicina (CEBICEM)

Universidad San Sebastián

Santiafgo, Chile

2
Mary Carmen Vázquez

Universidad San Sebastián

Santiago, Chile

2
Pablo Mardones

Research Associate

PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE

Santiago, Chile

2
Francisca Bronfman

Full Professor

Instituto de Ciencias Biomédicas

Universidad Andrés Bello

Santiago, Chile

1
JOSE GALGANI

ASSOCIATE PROFESSOR

NUTRITION, DIABETES AND METABOLISM; AND UDA-CIENCIAS DE LA SALUD, NUTRICION Y DIETETICA

PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE

Santiago, Chile

1
Paulina Mabe

Neuropediatrician

Exequiel Gonzalez Cortes Children Hospital

Santiago, Chile

1
Rommy von Bernhardi

Full Professor

Neurology

DEPT. NEUROLOGY, FAC. MEDICINE PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE

Santiago, Chile

1
Juan Orellana

Associate Professor

Departamento de Neurología

PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE

Santiago, Chile

1
RICARDO MORENO

Profesor Titular

Fisiología

PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE, FACULTAD DE CIENCIAS BIOLÓGICAS, DEPTO. DE FISIOLOGÍA

Santiago, Chile

1
Carol Moraga

Assistant professor

Instituto Ciencias de la Ingeniería

Universidad de O'Higgins

Rancagua, Chile

1
JOSE SANTOS

Full Professor

Department of Nutrition, Diabetes and Metabolism

PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE

Santiago, Chile

1
Rodrigo Gutierrez

Full Professor

Molecular Genetics & Microbiology

PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE

Santiago, Chile

1
Mauricio Moraga

Profesor Asociado

Programa de Genética Humana

FACULTAD DE MEDICINA, UNIVERSIDAD DE CHILE

SANTIAGO, Chile

1
FERNANDO CROVARI

Jefe Departamento

Cirugía Digestiva

Pontificia Universidad Católica de Chile

Santiago, Chile

1
Christian Gonzalez

Full Professor

Biology

Universidad de Chile

Santiago, Chile

1
Julio Amigo

Assistant Professor

Physiology

Pontificia Universidad Catolica de Chile

Santiago, Chile

1
Juan Saez

Professor

Instituto de Neurociencias

Universidad de Valparaiso

Valparaíso, Chile

1
Rodrigo Pulgar

Profesor/Investigador asistente

INTA

UNIVERSIDAD DE CHILE - INSTITUTO DE NUTRICION Y TECNOLOGIA DE ALIMENTOS

Santiago, Chile

1
Víctor Castro

Profesor Asistente

Departamento de Biología

UNIVERSIDAD DE CHILE

Ñuñoa, Chile

1
Juan Calderon

Investigador

Facultad de Medicina

Universidad del Desarrollo

Santiago, Chile

1
Oscar Lazo

Research Fellow

UK Dementia Research Institute and Department of Neuromuscular diseases

UCL Queen Square Institute of Neurology

London, Reino Unido

1
Felipe Olivares

Profesional

CENTRO REGIONAL LA PLATINA (INIA - PLATINA)

INSTITUTO DE INVESTIGACIONES AGROPECUARIAS (INIA)

Santiago, Chile

1
Andrea Leiva

Profesor Asociado

Facultad de Ciencias de la Salud

Universidad San Sebastián

Santiago, Chile

1
Carolina Cabeza

Académica y Jefa de Centro de Investigación

Universidad Bernardo O'Higgins

Santiago , Chile

1
Juan Peña

Director Medico

Servicios Veterinarios especializados VETCO

santiago, Chile

1
Leonardo Pavez

Profesor Asociado

Instituto de Ciencias Naturales

Universidad de Las Américas

Santiago, Chile

1
Talia del Pozo

Académico Investigador

FAVA

Universidad de Las Américas

Santiago, Chile

1
Enrique Brandan

Profesor Titular

Biología Celular y Molecular

PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE

Santiago, Chile

1
Victoria Guixé

Titular Profesor

Biology

UNIVERSIDAD DE CHILE

Santiago, Chile

1
Nelson Espinosa

Investigador Adjunto

Psiquiatría

PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE

Santiago de Chile, Chile

1
Carlos Vio

Profesor

Fisiologia

PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE

Santiago, Chile