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Impaired calcium channel function and pronounced hippocampal atrophy in a schizophrenia patient with cognitive impairment carrying Presenilin-2 Ser130Leu mutation: A case report and literature review.
Schizophr Res
August 2023
Department of Neurology, West China Hospital, Sichuan University, No. 37 Guo Xue Xiang, Chengdu 610041, Sichuan Province, PR China. Electronic address:
Structural Predictive Model of Presenilin-2 Protein and Analysis of Structural Effects of Familial Alzheimer's Disease Mutations.
Biochem Res Int
November 2021
University of Antioquia, Faculty of Medicine, Group Molecular Genetics, Medellín, Colombia.
Alzheimer's disease manifests itself in brain tissue by neuronal death, due to aggregation of -amyloid, produced by senile plaques, and hyperphosphorylation of the tau protein, which produces neurofibrillary tangles. One of the genetic markers of the disease is the gene that translates the presenilin-2 protein, which has mutations that favor the appearance of the disease and has no reported crystallographic structure. In view of this, protein modeling is performed using prediction and structural refinement tools followed by an energetic and stereochemical characterization for its validation.
View Article and Find Full Text PDFEvaluating pathogenic dementia variants in posterior cortical atrophy.
Neurobiol Aging
January 2016
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA; Department of Neurology, Mayo Clinic, Jacksonville, FL, USA. Electronic address:
Posterior cortical atrophy (PCA) is an understudied visual impairment syndrome most often due to "posterior Alzheimer's disease (AD)" pathology. Case studies detected mutations in PSEN1, PSEN2, GRN, MAPT, and PRNP in subjects with clinical PCA. To detect the frequency and spectrum of mutations in known dementia genes in PCA, we screened 124 European-American subjects with clinical PCA (n = 67) or posterior AD neuropathology (n = 57) for variants in genes implicated in AD, frontotemporal dementia, and prion disease using NeuroX, a customized exome array.
View Article and Find Full Text PDFMutations of presenilin genes in dilated cardiomyopathy and heart failure.
Am J Hum Genet
December 2006
Familial Dilated Cardiomyopathy Research Program, Division of Cardiovascular Medicine and the Department of Medicine, Oregon Health and Science University, Portland, OR 97239, USA.
Two common disorders of the elderly are heart failure and Alzheimer disease (AD). Heart failure usually results from dilated cardiomyopathy (DCM). DCM of unknown cause in families has recently been shown to result from genetic disease, highlighting newly discovered disease mechanisms.
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