Access the full text.
Sign up today, get DeepDyve free for 14 days.
R. Nixon, A. Cataldo, P. Mathews (2000)
The Endosomal-Lysosomal System of Neurons in Alzheimer's Disease Pathogenesis: A ReviewNeurochemical Research, 25
Luke Esposito, J. Raber, Lisa Kekonius, F. Yan, Giuqiu Yu, Nga Bien-ly, J. Puoliväli, K. Scearce-Levie, E. Masliah, L. Mucke (2006)
Reduction in Mitochondrial Superoxide Dismutase Modulates Alzheimer's Disease-Like Pathology and Accelerates the Onset of Behavioral Changes in Human Amyloid Precursor Protein Transgenic MiceThe Journal of Neuroscience, 26
E. Flamm, A. Viau, J. Ransohoff, N. Naftchi (1976)
Experimental alterations in cyclic adenosine monophosphate concentrations in the cat basilar arteryNeurology, 26
K. Chiu, L. Chuang, C. Yoon, M. Saad (2000)
Hepatic glucokinase promoter polymorphism is associated with hepatic insulin resistance in Asian Indians.BMC Genetics, 1
M. Kowalski, A. Bielecka-Kowalska, Katarzyna Oszajca, M. Eusebio, Piotr Jaworski, J. Bartkowiak, J. Szemraj (2010)
Manganese superoxide dismutase (MnSOD) gene (Ala-9Val, Ile58Thr) polymorphism in patients with age-related macular degeneration (AMD).Medical science monitor : international medical journal of experimental and clinical research, 16 4
C. Paz-y-Miño, J. Pérez, R. Burgos, M. Dávalos, P. Leone (1999)
The ΔF508 mutation in Ecuador, South AmericaHuman Mutation, 14
Gloria Borgstahl, H. Parge, H. Parge, Michael Hickey, Michael Johnson, Maurice Boissinot, Maurice Boissinot, R. Hallewell, James Lepock, D. Cabelli, J. Tainer (1996)
Human mitochondrial manganese superoxide dismutase polymorphic variant Ile58Thr reduces activity by destabilizing the tetrameric interface.Biochemistry, 35 14
V. Wang, Shao-Yuan Chen, T. Chuang, D. Shan, B. Soong, M. Kao (2010)
Val-9Ala and Ile+58Thr polymorphism of MnSOD in Parkinson's disease.Clinical biochemistry, 43 12
Isabelle Touitou, F. Capony, J. Brouillet, Henri Rochefort (1994)
Missense polymorphism (C/T224) in the human cathepsin D pro-fragment determined by polymerase chain reaction--single strand conformational polymorphism analysis and possible consequences in cancer cells.European journal of cancer, 30A 3
B. Jeong, K. Lee, Y. Lee, J. Yun, Y. Park, Y. Kim, Y. Cho, E. Choi, R. Carp, Y. Kim (2011)
Genetic polymorphism in exon 2 of cathepsin D is not associated with vascular dementiaActa Neurologica Scandinavica, 123
Polymorphisms Related to Alzheimer's Disease Copyright © 2015 by the Southern Society for Clinical Investigation
Susan Church, James Grant, E. Meese, Jeffrey Trent (1992)
Sublocalization of the gene encoding manganese superoxide dismutase (MnSOD/SOD2) to 6q25 by fluorescence in situ hybridization and somatic cell hybrid mapping.Genomics, 14 3
C. Lin, S. Wang, C. Wu, L. Chuo, Y. Kuo (2003)
The association of a cystatin C gene polymorphism with late-onset Alzheimer's disease and vascular dementia.The Chinese journal of physiology, 46 3
B. Nacmias, S. Bagnoli, A. Tedde, E. Cellini, V. Bessi, B. Guarnieri, Luigi Ortensi, S. Piacentini, L. Bracco, S. Sorbi (2007)
Angiotensin converting enzyme insertion/deletion polymorphism in sporadic and familial Alzheimer's disease and longevityArchives of Gerontology and Geriatrics, 45
Jeffrey Greenfield, Julia Tsai, G. Gouras, Bing Hai, G. Thinakaran, Frédéric Checler, S. Sisodia, Paul Greengard, Huaxi Xu (1999)
Endoplasmic reticulum and trans-Golgi network generate distinct populations of Alzheimer beta-amyloid peptides.Proceedings of the National Academy of Sciences of the United States of America, 96 2
B. Yankner, L. Duffy, Daniel Kirschner (1990)
Neurotrophic and neurotoxic effects of amyloid beta protein: reversal by tachykinin neuropeptides.Science, 250 4978
L. Mucke (2009)
Neuroscience: Alzheimer's diseaseNature, 461
D. Selkoe (2011)
Alzheimer's disease.Cold Spring Harbor perspectives in biology, 3 7
D. Tang‐Wai, K. Josephs, R. Petersen (2005)
Neurodegenerative Diseases: Alzheimer's disease: overview
E. Mariani, D. Seripa, T. Ingegni, G. Nocentini, F. Mangialasche, S. Ercolani, A. Cherubini, A. Metastasio, A. Pilotto, U. Senin, P. Mecocci (2006)
Interaction of CTSD and A2M polymorphisms in the risk for Alzheimer's diseaseJournal of the Neurological Sciences, 247
C. Merriam (1888)
Species and Subspecies: A Reply to Mr. Conn.Science, 12 305
C. Loy, PR Schofield, A. Turner, Jbj Kwok (2013)
The Genetics of Dementia
P. Gałecki, J. Śmigielski, A. Florkowski, K. Bobińska, T. Pietras, J. Szemraj (2010)
Analysis of two polymorphisms of the manganese superoxide dismutase gene (Ile-58Thr and Ala-9Val) in patients with recurrent depressive disorderPsychiatry Research, 179
(2014)
Genética Molecular y Citogenética humana: Fundamentos, aplicaciones e investigaciones en el Ecuador
Arantxa Guimerà, X. Gironés, Félix Cruz-Sánchez (2002)
Actualización sobre la patología de la enfermedad de Alzheimer
(2001)
Alzheimer's society. The Mini-Mental State Examination (MMSE) a guide for people with dementia and their carers
P. McCollom (2004)
Alzheimer's disease: an overview.The Case manager, 15 5
(2012)
World Health Organization. Dementia cases set to triple by 2050 but still largely ignored
Copyright Ó 2015 by the Southern Society for Clinical Investigation. Unauthorized reproduction of this article is prohibited
R. Dodel, Yansheng Du, C. Depboylu, Alexander Kurz, B. Eastwood, Martin Farlow, W. Oertel, Ulrich Müller, M. Riemenschneider (2002)
A polymorphism in the cystatin C promoter region is not associated with an increased risk of AD.Neurology, 58 4
B. Gendel (1963)
MEDICAL GENETICS.Memphis and Mid-South medical journal, 38
A. Chutorian (1974)
Benign paroxysmal torticollis, tortipelvis, and retrocollis of infancyNeurology, 24
A. Papassotiropoulos, M. Bagli, A. Kurz, J. Kornhuber, Hans Förstl, W. Maier, J. Pauls, N. Lautenschlager, R. Heun (2000)
A genetic variation of cathepsin D is a major risk factor for Alzheimer's diseaseAnnals of Neurology, 47
Hirofumi Maruyama, Y. Izumi, Masaya Oda, T. Torii, H. Morino, H. Toji, K. Sasaki, Hideo Terasawa, Shigenobu Nakamura, H. Kawakami (2001)
Lack of an association between cystatin C gene polymorphisms in Japanese patients with Alzheimer’s diseaseNeurology, 57
M. Liddell, A. Bayer, M. Owen (1995)
No evidence that common allelic variation in the Amyloid Precursor Protein (APP) gene confers susceptibility to Alzheimer's disease.Human molecular genetics, 4 5
I. Appollonio, Maria Leone, V. Isella, F. Piamarta, T. Consoli, Ml Villa, E. Forapani, A. Russo, P. Nichelli (2005)
The Frontal Assessment Battery (FAB): normative values in an Italian population sampleNeurological Sciences, 26
C. Paz-y-Miño, J. Pérez, R. Burgos, M. Dávalos, P. Leone (1999)
The DeltaF508 mutation in Ecuador, South America.Human mutation, 14 4
(2002)
Enfermedades Neurodegenerativas. Serie Científica
G. Roks, M. Cruts, A. Slooter, B. Dermaut, A. Hofman, C. Broeckhoven, C. Duijn (2001)
The cystatin C polymorphism is not associated with early onset Alzheimer’s diseaseNeurology, 57
L. Bertram, R. Tanzi (2008)
Thirty years of Alzheimer's disease genetics: the implications of systematic meta-analysesNature Reviews Neuroscience, 9
S. Shimoda-Matsubayashi, H. Matsumine, Tomonori Kobayashi, Y. Nakagawa‐Hattori, Yumiko Shimizu, Yoshikuni Mizuno (1996)
Structural dimorphism in the mitochondrial targeting sequence in the human manganese superoxide dismutase gene. A predictive evidence for conformational change to influence mitochondrial transport and a study of allelic association in Parkinson's disease.Biochemical and biophysical research communications, 226 2
C. Paz-y-Miño, C. Carrera, A. López-Cortés, M. Muñoz, N. Cumbal, Bernardo Castro, Alejandro Cabrera, M. Sanchez (2010)
Genetic Polymorphisms in Apolipoprotein E and Glutathione Peroxidase 1 Genes in the Ecuadorian Population Affected With Alzheimer's DiseaseThe American Journal of the Medical Sciences, 340
Paul Turner, Kathleen O’Connor, W. Tate, W. Abraham (2003)
Roles of amyloid precursor protein and its fragments in regulating neural activity, plasticity and memoryProgress in Neurobiology, 70
(2000)
Polymorphisms at the SOD2 and SOD3 genes and their relation to diabetic Neuropathy in type 1 diabetes mellitus
R. Steinfeld, K. Reinhardt, Kathrin Schreiber, Merle Hillebrand, R. Kraetzner, W. Bruck, P. Saftig, J. Gartner (2006)
Cathepsin D deficiency is associated with a human neurodegenerative disorder.American journal of human genetics, 78 6
G. Mckhann, D. Knopman, H. Chertkow, B. Hyman, C. Jack, C. Kawas, W. Klunk, W. Koroshetz, J. Manly, R. Mayeux, R. Mohs, J. Morris, M. Rossor, P. Scheltens, M. Carrillo, B. Thies, S. Weintraub, C. Phelps (2011)
The diagnosis of dementia due to Alzheimer’s disease: Recommendations from the National Institute on Aging-Alzheimer’s Association workgroups on diagnostic guidelines for Alzheimer's diseaseAlzheimer's & Dementia, 7
CLINICAL INVESTIGATION Positive Association of the Cathepsin D Ala224Val Gene Polymorphism With the Risk of Alzheimer’s Disease in Ecuadorian Population César Paz-y-Miño, MD, Jennyfer M. García-Cárdenas, MSc, Andrés López-Cortés, BSc, Carolina Salazar, MSc, Marcos Serrano, MD and Paola E. Leone, PhD instance, when comparing Cystic Fibrosis, the incidence in Abstract: Background: Alzheimer’s disease (AD) is the most common Latin America is 1/10,000, whereas in whites the incidence is cause of senile dementia. In Ecuador, the number of deaths caused by 1/2,000. In Ecuador, only 150 cases have been reported. AD increases each year. Epidemiologically, the Ecuadorian population AD begins with subtle memory loss, which progresses to is composed of a mixture of several genetic backgrounds along with a more severe, irreversible and incapacitating form. Other environmental factors, that make it unique and ideal for population symptoms include confusion, poor judgment, language prob- studies. The main objective of this study was to determine the preva- lems and hallucinations, among others. In the brain, cerebral lence of Cystatin C (CST3), Cathepsin D (CTSD) and Manganese cortical atrophy is a product of intraneural neurofibrillary tan- superoxide dismutase (MnSOD) amino acid-altering polymorphisms gles and large extracellular accumulations of amyloid b (Ab)in and their
American Journal of the Medical Sciences – Wolters Kluwer Health
Published: Sep 1, 2015
Read and print from thousands of top scholarly journals.
Already have an account? Log in
Bookmark this article. You can see your Bookmarks on your DeepDyve Library.
To save an article, log in first, or sign up for a DeepDyve account if you don’t already have one.
Copy and paste the desired citation format or use the link below to download a file formatted for EndNote
Access the full text.
Sign up today, get DeepDyve free for 14 days.
All DeepDyve websites use cookies to improve your online experience. They were placed on your computer when you launched this website. You can change your cookie settings through your browser.