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https://www.readbyqxmd.com/read/27900998/novel-mutations-in-psenen-gene-in-two-chinese-acne-inversa-families-manifested-as-familial-multiple-comedones-and-dowling-degos-disease
#1
Cheng Zhou, Guang-Dong Wen, Lwin Myint Soe, Hong-Jun Xu, Juan Du, Jian-Zhong Zhang
BACKGROUND: Acne inversa (AI), also called hidradenitis suppurativa, is a chronic, inflammatory, recurrent skin disease of the hair follicle. Familial AI shows autosomal-dominant inheritance caused by mutations in the γ-secretase genes. This study was aimed to identify the specific mutations in the γ-secretase genes in two Chinese families with AI. METHODS: In this study, two Chinese families with AI were investigated. All the affected individuals in the two families mainly manifested with multiple comedones, pitted scars, and a few inflammatory nodules on their face, neck, trunk, axilla, buttocks, upper arms, and thighs...
2016: Chinese Medical Journal
https://www.readbyqxmd.com/read/27897204/human-mitochondrial-transcriptional-factor-a-breaks-the-mitochondria-mediated-vicious-cycle-in-alzheimer-s-disease
#2
Sugako Oka, Julio Leon, Kunihiko Sakumi, Tomomi Ide, Dongchon Kang, Frank M LaFerla, Yusaku Nakabeppu
In the mitochondria-mediated vicious cycle of Alzheimer's disease (AD), intracellular amyloid β (Aβ) induces mitochondrial dysfunction and reactive oxygen species, which further accelerate Aβ accumulation. This vicious cycle is thought to play a pivotal role in the development of AD, although the molecular mechanism remains unclear. Here, we examined the effects of human mitochondrial transcriptional factor A (hTFAM) on the pathology of a mouse model of AD (3xTg-AD), because TFAM is known to protect mitochondria from oxidative stress through maintenance of mitochondrial DNA (mtDNA)...
November 29, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27888801/common-profiles-of-notch-signaling-differentiate-disease-free-survival-in-luminal-type-a-and-triple-negative-breast-cancer
#3
Magdalena Orzechowska, Dorota Jędroszka, Andrzej K Bednarek
Breast cancer (BC) is characterized by high heterogeneity regarding its biology and clinical characteristics. The Notch pathway regulates such processes as organ modeling and epithelial-to-mesenchymal transition (EMT).The aim of the study was to determine the effect of differential expression of Notch members on disease-free survival (DFS) in luminal type A (lumA) and triple negative (TN) BC.The differential expression of 19 Notch members was examined in a TCGA BC cohort. DFS analysis was performed using the log-rank test (p<0...
November 19, 2016: Oncotarget
https://www.readbyqxmd.com/read/27883225/computational-screening-and-exploration-of-disease-associated-genes-in-alzheimer-s-disease
#4
Salma Jamal, Sukriti Goyal, Asheesh Shanker, Abhinav Grover
Alzheimer's is a neurodegenerative disease affecting large populations worldwide characterized mainly by progressive loss of memory along with various other symptoms. The foremost cause of the disease is still unclear, however various mechanisms have been proposed to cause the disease that include amyloid hypothesis, tau hypothesis and cholinergic hypothesis in addition to genetic factors. Various genes have been known to be involved which are APOE, PSEN1, PSEN2 and APP among others. In the present study, we have used computational methods to examine the pathogenic effects of non-synonymous single nucleotide polymorphisms (SNPs) associated with ABCA7, CR1, MS4A6A, CD2AP, PSEN1, PSEN2 and APP genes...
November 24, 2016: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/27879212/generation-of-a-gene-corrected-isogenic-control-cell-line-from-an-alzheimer-s-disease-patient-ipsc-line-carrying-a-a79v-mutation-in-psen1
#5
Carlota Pires, Benjamin Schmid, Carina Petræus, Anna Poon, Natakarn Nimsanor, Troels T Nielsen, Gunhild Waldemar, Lena E Hjermind, Jørgen E Nielsen, Poul Hyttel, Kristine K Freude
Alzheimer's disease (AD) is a progressive and irreversible neurodegenerative disease causing neural cell degeneration and brain atrophy and is considered to be the most common form of dementia. We previously generated an induced pluripotent stem cell (iPSC) line from an AD patient carrying an A79V mutation in PSEN1 as an in vitro disease model. Here we generated a gene-corrected version from this hiPSC line by substituting the point mutation with the wild-type sequence. The reported A79V-GC-iPSCs line is a very useful resource in combination with the A79V-iPSC line in order to study pathological cellular phenotypes related to this particular mutation...
September 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27858713/protein-expression-of-bace1-is-downregulated-by-donepezil-in-alzheimer-s-disease-platelets
#6
Tamires Alves Sarno, Leda Leme Talib, Helena Passarelli Giroud Joaquim, Wagner Farid Gattaz, Orestes Vicente Forlenza
BACKGROUND: Abnormal amyloid-β protein precursor (AβPP) metabolism is a key feature of Alzheimer's disease (AD). Platelets contain most of the enzymatic machinery required for AβPP processing, and correlates of intracerebral abnormalities have been demonstrated in platelets of patients with AD. Thus, AβPP-related molecules in platelets may be regarded as peripheral markers of AD. OBJECTIVE: We sought to determine the protein expression of the AβPP secretases (ADAM10, BACE1, and PSEN1) and AβPP ratio in platelets of patients with mild or moderate AD compared to healthy controls...
November 14, 2016: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/27836335/a-novel-presenilin-1-mutation-f388l-identified-in-a-chinese-family-with-early-onset-alzheimer-s-disease
#7
Yihong Zhan, Honghua Zheng, Chen Wang, Zhouyi Rong, Naian Xiao, Qilin Ma, Yun-Wu Zhang
A subset of Alzheimer's disease (AD) occurrence shows autosomal dominant, familial inheritance patterns. Such familial AD (FAD) are caused by mutations in APP, PSEN1, and PSEN2 genes, which encode amyloid-β (Aβ) precursor protein, presenilin 1 (PS1), and presenilin 2 (PS2), respectively. Here, we report a novel PSEN1 mutation (c.1164C > G, p.F388L, mutation nomenclature according to National Center for Biotechnology Information Reference Sequence: NM_000021.3) occurring in a Chinese family with early-onset AD and cosegregating with affected family members...
October 15, 2016: Neurobiology of Aging
https://www.readbyqxmd.com/read/27816212/novel-presenilin-1-mutation-p-f386i-in-a-chinese-family-with-early-onset-alzheimer-s-disease
#8
Yat-Fung Shea, Angel On-Kei Chan, Leung-Wing Chu, Shui-Ching Lee, Chun-Yin Law, Chung-Him See, Kit-Ling Yiu, Patrick Ka-Chun Chiu
Autosomal dominant familial Alzheimer's disease accounts for 0.5% of all Alzheimer's disease. A familial Alzheimer's disease Chinese family, with 7 affected family members, underwent PSEN1 screening in 3 affected family members. A heterozygous novel missense mutation in the PSEN1 gene c.1156T>A, altering phenylalanine to isoleucine at codon 386, was identified. Because the change occurred in conserved domains of this gene and cosegregated with affected family members, this change may have a mutagenic and probably pathogenic effect...
October 15, 2016: Neurobiology of Aging
https://www.readbyqxmd.com/read/27804997/a-presenilin-notch1-pathway-regulated-by-mir-375-mir-30a-and-mir-34a-mediates-glucotoxicity-induced-pancreatic-beta-cell-apoptosis
#9
Yating Li, Tao Zhang, Yuncai Zhou, Yi Sun, Yue Cao, Xiaoai Chang, Yunxia Zhu, Xiao Han
The presenilin-mediated Notch1 cleavage pathway plays a critical role in controlling pancreatic beta cell fate and survival. The aim of the present study was to investigate the role of Notch1 activation in glucotoxicity-induced beta cell impairment and the contributions of miR-375, miR-30a, and miR-34a to this pathway. We found that the protein levels of presenilins (PSEN1 and PSEN2), and NOTCH1 were decreased in INS-1 cells after treatment with increased concentrations of glucose, whereas no significant alteration of mRNA level of Notch1 was observed...
November 2, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27799753/mutations-associated-with-early-onset-alzheimer-s-disease-discovered-in-asian-countries
#10
REVIEW
Eva Bagyinszky, Young Chul Youn, Seong Soo A An, SangYun Kim
Alzheimer's disease (AD), the most common form of senile dementia, is a genetically complex disorder. In most Asian countries, the population and the number of AD patients are growing rapidly, and the genetics of AD has been extensively studied, except in Japan. However, recent studies have been started to investigate the genes and mutations associated with AD in Korea, the People's Republic of China, and Malaysia. This review describes all of the known mutations in three early-onset AD (EOAD) causative genes (APP, PSEN1, and PSEN2) that were discovered in Asian countries...
2016: Clinical Interventions in Aging
https://www.readbyqxmd.com/read/27793474/clinical-imaging-pathological-and-biochemical-characterization-of-a-novel-presenilin-1-mutation-n135y-causing-alzheimer-s-disease
#11
Marissa Natelson Love, David G Clark, J Nicholas Cochran, Kyle A Den Beste, David S Geldmacher, Tammie L Benzinger, Brian A Gordon, John C Morris, Randall J Bateman, Erik D Roberson
We present 2 cases of early-onset Alzheimer's disease due to a novel N135Y mutation in PSEN1. The proband presented with memory and other cognitive symptoms at age 32. Detailed clinical characterization revealed initial deficits in memory with associated dysarthria, progressing to involve executive dysfunction, spastic gait, and episodic confusion with polyspike discharges on long-term electroencephalography. Amyloid- and FDG-PET scans showed typical results of Alzheimer's disease. By history, the proband's father had developed cognitive symptoms at age 42 and died at age 48...
October 3, 2016: Neurobiology of Aging
https://www.readbyqxmd.com/read/27789396/derivation-of-induced-pluripotent-stem-cells-from-a-familial-alzheimer-s-disease-patient-carrying-the-l282f-mutation-in-presenilin-1
#12
Anna Poon, Tong Li, Carlota Pires, Troels T Nielsen, Jørgen E Nielsen, Bjørn Holst, Andras Dinnyes, Poul Hyttel, Kristine K Freude
Mutations in presenilin 1 (PSEN1) lead to the most aggressive form of familial Alzheimer's disease (AD). Human induced pluripotent stem cells (hiPSCs) derived from AD patients can be differentiated and used for disease modeling. Here, we derived hiPSC from skin fibroblasts obtained from an AD patient carrying a L282F mutation in PSEN1. We transfected skin fibroblasts with episomal iPSC reprogramming vectors targeting human OCT4, SOX2, L-MYC, KLF4, NANOG, LIN28, and short hairpin RNA against TP53. Our hiPSC line, L282F-hiPSC, displayed typical stem cell characteristics with consistent expression of pluripotency genes and the ability to differentiation into the three germ layers...
September 28, 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27789395/generation-of-a-gene-corrected-isogenic-control-hipsc-line-derived-from-a-familial-alzheimer-s-disease-patient-carrying-a-l150p-mutation-in-presenilin-1
#13
Anna Poon, Benjamin Schmid, Carlota Pires, Troels T Nielsen, Lena E Hjermind, Jørgen E Nielsen, Bjørn Holst, Poul Hyttel, Kristine K Freude
Mutations in the presenilin 1 (PSEN1) gene lead to the most aggressive form of familial Alzheimer's disease (AD). Human induced pluripotent stem cells (hiPSCs) derived from AD patients and subsequently differentiated can be used for disease modeling. We have previously generated a hiPSC line from a familial AD patient carrying a L150P point mutation in PSEN1. Here we used CRISPR/Cas9 gene editing to correct for the single base pair mutation. This gene-corrected line, L150P-GC-hiPSC, serves as an isogenic control to the mutant line for future investigation of mechanisms and cellular phenotypes altered by this specific PSEN1 mutation...
September 24, 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27785004/psen1-l226f-mutation-in-a-patient-with-early-onset-alzheimer-s-disease-in-korea
#14
Eva Bagyinszky, Sun Ah Park, Hyung Jun Kim, Seong Hye Choi, Seong Soo A An, Sang Yun Kim
In this study, we report a first 226leucine (Leu) mutation to phenylalanine (Phe) in (PSEN1, CTC>TTC, L226F) in Asia from a Korean early-onset Alzheimer's disease (EOAD) patient. Polymerase chain reaction (PCR)-single strand conformation polymorphism, sequencing, and in silico predictions were performed. Previously, L226F was reported in EOAD patients by Zekanowski et al and Gómez-Tortosa et al. Disease phenotypes appeared in their thirties, and family history was positive in both cases. In our patient, age of onset was similar (37 years of age), but the mutation seemed to be de novo, since no affected family member was found...
2016: Clinical Interventions in Aging
https://www.readbyqxmd.com/read/27777022/clinical-phenotype-and-genetic-associations-in-autosomal-dominant-familial-alzheimer-s-disease-a-case-series
#15
Natalie S Ryan, Jennifer M Nicholas, Philip S J Weston, Yuying Liang, Tammaryn Lashley, Rita Guerreiro, Gary Adamson, Janna Kenny, Jon Beck, Lucia Chavez-Gutierrez, Bart de Strooper, Tamas Revesz, Janice Holton, Simon Mead, Martin N Rossor, Nick C Fox
BACKGROUND: The causes of phenotypic heterogeneity in familial Alzheimer's disease with autosomal dominant inheritance are not well understood. We aimed to characterise clinical phenotypes and genetic associations with APP and PSEN1 mutations in symptomatic autosomal dominant familial Alzheimer's disease (ADAD). METHODS: We retrospectively analysed genotypic and phenotypic data (age at symptom onset, initial cognitive or behavioural symptoms, and presence of myoclonus, seizures, pyramidal signs, extrapyramidal signs, and cerebellar signs) from all individuals with ADAD due to APP or PSEN1 mutations seen at the Dementia Research Centre in London, UK...
October 21, 2016: Lancet Neurology
https://www.readbyqxmd.com/read/27743520/characterizing-familial-corticobasal-syndrome-due-to-alzheimer-s-pathology-and-psen1-mutations
#16
Benjamin Lam, Aun Khan, Julia Keith, Ekaterina Rogaeva, Juan Bilbao, Peter St George-Hyslop, Mahdi Ghani, Morris Freedman, Donald T Stuss, Tiffany Chow, Sandra E Black, Mario Masellis
INTRODUCTION: Corticobasal syndrome (CBS) resulting from genetic Alzheimer's disease (AD) has been described only once. Whether familial CBS-AD is a distinct clinical entity with its own imaging signature remains unknown. METHODS: Four individuals with CBS from two families underwent detailed assessment. For two individuals, regional atrophy and hypoperfusion were compared to autopsy-confirmed typical late-onset AD and corticobasal degeneration, as well as genetically proven PSEN1 cases with an amnestic presentation...
October 12, 2016: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/27733562/presymptomatic-cortical-thinning-in-familial-alzheimer-disease-a-longitudinal-mri-study
#17
Philip S J Weston, Jennifer M Nicholas, Manja Lehmann, Natalie S Ryan, Yuying Liang, Kirsty Macpherson, Marc Modat, Martin N Rossor, Jonathan M Schott, Sebastien Ourselin, Nick C Fox
OBJECTIVE: To identify a cortical signature pattern of cortical thinning in familial Alzheimer disease (FAD) and assess its utility in detecting and tracking presymptomatic neurodegeneration. METHODS: We recruited 43 FAD mutation carriers-36 PSEN1, 7 APP (20 symptomatic, 23 presymptomatic)-and 42 healthy controls to a longitudinal clinical and MRI study. T1-weighted MRI scans were acquired at baseline in all participants; 55 individuals (33 mutation carriers; 22 controls) had multiple (mean 2...
November 8, 2016: Neurology
https://www.readbyqxmd.com/read/27730373/angela-r-a-familial-alzheimer-s-disease-case-in-the-days-of-auguste-d
#18
Laura Borrello, Chiara Cupidi, Valentina Laganà, Maria Anfossi, Maria Elena Conidi, Nicoletta Smirne, Maria Taverniti, Roberto Guarasci, Amalia Cecilia Bruni
The rebuilding of the N family, a large Italian kindred affected by early-onset autosomal dominant Alzheimer's disease (AD), provided an important contribution to the discovery of Presenilin 1 (PSEN1), the main gene responsible for familial AD. This pedigree was identified with the help of medical records from the archives of the Psychiatric Hospital of Girifalco, Italy. The clinical record of Angela R., an ancestor of the N family, dating back to 1904, showed a clinical picture of Angela R., consistent with a diagnosis of non-amnestic probable AD, matching the "dysexecutive" phenotype described in her descendants...
December 2016: Journal of Neurology
https://www.readbyqxmd.com/read/27686161/cerebrospinal-fluid-presenilin-1-increases-at-asymptomatic-stage-in-genetically-determined-alzheimer-s-disease
#19
Aitana Sogorb-Esteve, María-Salud García-Ayllón, Juan Fortea, Raquel Sánchez-Valle, Alberto Lleó, José-Luis Molinuevo, Javier Sáez-Valero
BACKGROUND: Presenilin-1 (PS1), the active component of the intramembrane γ-secretase complex, can be detected as soluble heteromeric aggregates in cerebrospinal fluid (CSF). The aim of this study was to examine the different soluble PS1 complexes in the lumbar CSF (CSF-PS1) of individuals with Alzheimer's disease (AD), particularly in both symptomatic and asymptomatic genetically determined AD, in order to evaluate their potential as early biomarkers. METHODS: Western blotting, differential centrifugation and co-immunoprecipitation served to determine and characterize CSF-PS1 complexes...
September 29, 2016: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/27670763/trem1-facilitates-microglial-phagocytosis-of-amyloid-beta
#20
Teng Jiang, Ying-Dong Zhang, Qing Gao, Jun-Shan Zhou, Xi-Chen Zhu, Huan Lu, Jian-Quan Shi, Lan Tan, Qi Chen, Jin-Tai Yu
As the most common type of neurodegenerative disease, Alzheimer's disease (AD) is characterized by the accumulation of amyloid-β peptide (Aβ) within the brain. Triggering receptor expressed on myeloid cells (TREM) 1 is an immune receptor expressed by mononuclear phagocytes including monocytes and microglia, coupling with TYRO protein tyrosine kinase binding protein to regulate immune reactions. Emerging evidence indicates that rs6910730(G), an intronic variant of TREM1, is associated with an increased Aβ neuropathology in the brains of elderly subjects, but the underlying mechanisms remain unclear...
November 2016: Acta Neuropathologica
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