keyword
MENU ▼
Read by QxMD icon Read
search

Familial Alzheimer's disease

keyword
https://www.readbyqxmd.com/read/27911326/localization-and-processing-of%C3%A2-the%C3%A2-amyloid-%C3%AE-protein-precursor-in%C3%A2-mitochondria-associated-membranes
#1
Dolores Del Prete, Jan M Suski, Bénédicte Oulès, Delphine Debayle, Anne Sophie Gay, Sandra Lacas-Gervais, Renaud Bussiere, Charlotte Bauer, Paolo Pinton, Patrizia Paterlini-Bréchot, Mariusz R Wieckowski, Frédéric Checler, Mounia Chami
Alteration of mitochondria-associated membranes (MAMs) has been proposed to contribute to the pathogenesis of Alzheimer's disease (AD). We studied herein the subcellular distribution, the processing, and the protein interactome of the amyloid-β protein precursor (AβPP) and its proteolytic products in MAMs. We reveal that AβPP and its catabolites are present in MAMs in cellular models overexpressing wild type AβPP or AβPP harboring the double Swedish or London familial AD mutations, and in brains of transgenic mice model of AD...
November 26, 2016: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/27911317/alzheimer-s-disease-histological-and%C3%A2-behavioral-manifestations-in%C3%A2-transgenic-mice-correlate-with%C3%A2-specific%C3%A2-gut-microbiome-state
#2
Liang Shen, Lu Liu, Hong-Fang Ji
Alzheimer's disease (AD) is a neurodegenerative brain disease and is the most common form of dementia. In recent years, many studies indicated the association of gut microbiota changes with metabolic diseases. However, the gut microbiota of AD has not been investigated. The present study aims to compare the gut microbiota in APP/PS1 transgenic mice of AD and C57/Bl6 wild-type (WT) mice by pyrosequencing the V3 and V4 regions of the bacterial 16S ribosomal RNA genes. The 3-, 6-, and 8-month-old APP/PS1 and WT mice were used to explore the effects of age on the gut microbiota...
November 28, 2016: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/27911308/the-effects-of-gene-mutations-on%C3%A2-default%C3%A2-mode-network-in%C3%A2-familial%C3%A2-alzheimer-s-disease
#3
Xiaozhen Li, Eric Westman, Steinunn Thordardottir, Anne Kinhult Ståhlbom, Ove Almkvist, Kaj Blennow, Lars-Olof Wahlund, Caroline Graff
Familial Alzheimer's disease (FAD) mutations have very high penetrance but age at onset and rate of disease progression differ. Neuroimaging and cerebrospinal fluid (CSF) examinations in mutation carriers (MCs) may provide an opportunity to identify early biomarkers that can be used to track disease progression from presymptomatic to the dementia stages of disease. The default mode network (DMN) is a resting state neuronal network composed of regions known to associate with amyloid deposition in AD. We hypothesized that functional connectivity in the DMN might change at pre-clinical stages in FAD MCs and correlate with changes in CSF biomarkers as a consequence of AD brain pathology...
November 29, 2016: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/27911290/rare-genetic-variant-in-sorl1-may-increase-penetrance-of-alzheimer-s-disease-in-a-family-with-several-generations-of-apoe-%C3%A9-4-homozygosity
#4
Eva Louwersheimer, Petra E Cohn-Hokke, Yolande A L Pijnenburg, Marjan M Weiss, Erik A Sistermans, Annemieke J Rozemuller, Marc Hulsman, John C van Swieten, Cock M van Duijn, Frederik Barkhof, Teddy Koene, Philip Scheltens, Wiesje M Van der Flier, Henne Holstege
BACKGROUND: The major genetic risk factor for late onset Alzheimer's disease (AD) is the APOE-ɛ4 allele. However, APOE-ɛ4 homozygosity is not fully penetrant, suggesting co-occurrence of additional genetic variants. OBJECTIVE: To identify genetic factors that, next to APOE-ɛ4 homozygosity, contribute to the development of AD. METHODS: We identified a family with nine AD patients spanning four generations, with an inheritance pattern suggestive of autosomal dominant AD, with no variants in PSEN1, PSEN2, or APP...
November 28, 2016: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/27911071/severe-brain-injury-in-massachusetts-assessing-the-continuum-of-care
#5
Laura Lorenz, Gabrielle Katz
Acquired brain injury (ABI) is a major public health problem in Massachusetts (Hackman et al, 2014) and includes traumatic brain injury (TBI), stroke, ABI-related infectious diseases, metabolic disorders affecting the central nervous system (brain and spinal cord), and brain tumor. Advances in emergency medical care and neurosurgery mean that more people are surviving severe traumatic brain injury (Trexler et al, 2014). Yet many patients with severe TBI in particular, are not receiving inpatient services after initial treatment (Hackman et al, 2014; CDC, 2014) or later that are known to be effective (Malec & Kean, 2015; Lewis & Horn, 2015; BI Commission, 2011; Kolakowsky-Hayner et al, 2000; Interviews)...
December 10, 2015: Issue Brief
https://www.readbyqxmd.com/read/27905353/-twenty-five-years-of-the-amyloid-hypothesis-of-alzheimer-disease-advances-failures-and-new-perspectives
#6
O S Levin, E E Vasenina
Amyloid hypothesis of Alzheimer's disease (AD) has been long the primary one. During the 25-year history the concept has been dramatically changed. Accumulation of β-amyloid is associated not only with the disruption of its synthesis (as it seemed after the discovery of genetic mechanisms of some familial cases of AD) but rather with the disruption of its clearance and elimination from the brain tissue via the microcirculatory system. It has been recognized that soluble oligomers of β-amyloid, but not senile plaques that consisted of insoluble conjugates described by A...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/27903333/diffusion-tensor-imaging-predictors-of-episodic-memory-decline-in-healthy-elders-at-genetic-risk-for-alzheimer-s-disease
#7
Melissa A Lancaster, Michael Seidenberg, J Carson Smith, Kristy A Nielson, John L Woodard, Sally Durgerian, Stephen M Rao
OBJECTIVES: White matter (WM) integrity within the mesial temporal lobe (MTL) is important for episodic memory (EM) functioning. The current study investigated the ability of diffusion tensor imaging (DTI) in MTL WM tracts to predict 3-year changes in EM performance in healthy elders at disproportionately higher genetic risk for Alzheimer's disease (AD). METHODS: Fifty-one cognitively intact elders (52% with family history (FH) of dementia and 33% possessing an Apolipoprotein E ε4 allelle) were administered the Rey Auditory Verbal Learning Test (RAVLT) at study entry and at 3-year follow-up...
November 2016: Journal of the International Neuropsychological Society: JINS
https://www.readbyqxmd.com/read/27901000/endoplasmic-reticulum-stress-induces-the-early-appearance-of-pro-apoptotic-and-anti-apoptotic-proteins-in-neurons-of-five-familial-alzheimer-s-disease-mice
#8
Hui Shen, Xiao-Dong Pan, Jing Zhang, Yu-Qi Zeng, Meng Zhou, Lu-Meng Yang, Bing Ye, Xiao-Man Dai, Yuan-Gui Zhu, Xiao-Chun Chen
BACKGROUND: Amyloid β (Aβ) deposits and the endoplasmic reticulum stress (ERS) are both well established in the development and progression of Alzheimer's disease (AD). However, the mechanism and role of Aβ-induced ERS in AD-associated pathological progression remain to be elucidated. METHODS: The five familial AD (5×FAD) mice and wild-type (WT) mice aged 2, 7, and 12 months were used in the present study. Morris water maze test was used to evaluate their cognitive performance...
2016: Chinese Medical Journal
https://www.readbyqxmd.com/read/27899432/alz-i-connect-a-novel-audiovisual-care-consultation-for-caregivers
#9
Babak Tousi, Cheryl Kanetsky, Nancy Udelson
Currently, there is not enough time or staff in the physician's office to provide education about Alzheimer's disease for newly diagnosed patients and their family members. The Alzheimer's Association Cleveland Area Chapter has implemented a novel approach for individuals to connect to helpful information about Alzheimer's disease and related dementias while at the physician's office. This project is being piloted at two memory assessment clinics of The Cleveland Clinic as a way to give assessment center staff the opportunity to connect families right away with the free support services available at the Association...
November 28, 2016: American Journal of Alzheimer's Disease and Other Dementias
https://www.readbyqxmd.com/read/27895577/fus1-ko-mouse-as-a-model-of-oxidative-stress-mediated-sporadic-alzheimer-s-disease-circadian-disruption-and-long-term-spatial-and-olfactory-memory-impairments
#10
Guillermo Coronas-Samano, Keeley L Baker, Winston J T Tan, Alla V Ivanova, Justus V Verhagen
Insufficient advances in the development of effective therapeutic treatments of sporadic Alzheimer's Disease (sAD) to date are largely due to the lack of sAD-relevant animal models. While the vast majority of models do recapitulate AD's hallmarks of plaques and tangles by virtue of tau and/or beta amyloid overexpression, these models do not reflect the fact that in sAD (unlike familial AD) these genes are not risk factors per se and that other mechanisms like oxidative stress, metabolic dysregulation and inflammation play key roles in AD etiology...
2016: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/27894840/overexpression-of-mterf4-promotes-the-amyloidogenic-processing-of-app-by-inhibiting-adam10
#11
Xiao-Liang Wang, Qing Liu, Guo-Jun Chen, Mei-Ling Li, Yan-Hui Ding
Alzheimer's disease (AD) is characterized by the deposition of β-amyloid (Aβ) peptide in the brain, which is produced by the proteolysis of β-amyloid precursor protein (APP). Recently, the mitochondrial transcription factor 4 (MTERF4), a member of the MTERF family, was implicated in regulating mitochondrial DNA transcription and directly in controlling mitochondrial ribosomal translation. The present study identified a novel role for MTERF4 in shifting APP processing toward the amyloidogenic pathway. The levels of MTERF4 protein were significantly increased in the hippocampus of APP/PS1 mice...
November 25, 2016: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/27893087/targeting-functional-decline-in-alzheimer-disease-a-randomized-trial
#12
Christopher M Callahan, Malaz A Boustani, Arlene A Schmid, Michael A LaMantia, Mary G Austrom, Douglas K Miller, Sujuan Gao, Denisha Y Ferguson, Kathleen A Lane, Hugh C Hendrie
Background: Alzheimer disease results in progressive functional decline, leading to loss of independence. Objective: To determine whether collaborative care plus 2 years of home-based occupational therapy delays functional decline. Design: Randomized, controlled clinical trial. (ClinicalTrial.gov: NCT01314950). Setting: Urban public health system. Patients: 180 community-dwelling participants with Alzheimer disease and their informal caregivers...
November 22, 2016: Annals of Internal Medicine
https://www.readbyqxmd.com/read/27892477/nanomolar-oligomerization-and-selective-co-aggregation-of-%C3%AE-synuclein-pathogenic-mutants-revealed-by-single-molecule-fluorescence
#13
Emma Sierecki, Nichole Giles, Quill Bowden, Mark E Polinkovsky, Janina Steinbeck, Nicholas Arrioti, Diya Rahman, Akshay Bhumkar, Philip R Nicovich, Ian Ross, Robert G Parton, Till Böcking, Yann Gambin
Protein aggregation is a hallmark of many neurodegenerative diseases, notably Alzheimer's and Parkinson's disease. Parkinson's disease is characterized by the presence of Lewy bodies, abnormal aggregates mainly composed of α-synuclein. Moreover, cases of familial Parkinson's disease have been linked to mutations in α-synuclein. In this study, we compared the behavior of wild-type (WT) α-synuclein and five of its pathological mutants (A30P, E46K, H50Q, G51D and A53T). To this end, single-molecule fluorescence detection was coupled to cell-free protein expression to measure precisely the oligomerization of proteins without purification, denaturation or labelling steps...
November 28, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27889944/intramembrane-proteases-as-drug-targets
#14
REVIEW
Steven H L Verhelst
Proteases are considered attractive drug targets. Various drugs targeting classical, soluble proteases have been approved for treatment of human disease. Intramembrane proteases (IMPs) are a more recently discovered group of proteolytic enzymes. They are embedded in lipid bilayers and their active sites are located in the plane of a membrane. All four mechanistic families of IMPs have been linked to disease, but currently, no drugs against IMPs have entered the market. In this review, I will outline the function of IMPs with a focus on the ones involved in human disease, which includes Alzheimer's disease, cancer, and infectious diseases by microorganisms...
November 27, 2016: FEBS Journal
https://www.readbyqxmd.com/read/27888449/salvia-sage-a-review-of-its-potential-cognitive-enhancing-and-protective-effects
#15
REVIEW
Adrian L Lopresti
Genus Salvia, commonly known as sage, is the largest genus in the Lamiaceae family. It comprises many species traditionally used as brain-enhancing tonics. In vitro and animal studies have confirmed that several Salvia species contain a large array of active compounds that may enhance cognitive activity and protect against neurodegenerative disease. In this review, the active constituents in plants belonging to the genus Salvia are summarised, and their influence on pharmacodynamics pertinent to cognitive activity are detailed...
November 25, 2016: Drugs in R&D
https://www.readbyqxmd.com/read/27887597/technology-enhanced-multi-domain-at-home-continuum-of-care-program-with-respect-to-usual-care-for-people-with-cognitive-impairment-the-ability-telerehabilitation-study-protocol-for-a-randomized-controlled-trial
#16
O Realdon, F Rossetto, M Nalin, I Baroni, M Cabinio, R Fioravanti, F L Saibene, M Alberoni, F Mantovani, M Romano, R Nemni, F Baglio
BACKGROUND: According to the World Alzheimer Report (Prince, The Global Impact of Dementia: an Analysis of Prevalence, Incidence, Cost and Trends, 2015), 46.8 million people worldwide are nowadays living with dementia. And this number is estimated to approximate 131.5 million by 2050, with an increasing burden on society and families. The lack of medical treatments able to stop or slow down the course of the disease has moved the focus of interest toward the nonpharmacological approach and psychosocial therapies for people with/at risk of dementia, as in the Mild Cognitive Impairment (MCI) condition...
November 25, 2016: BMC Psychiatry
https://www.readbyqxmd.com/read/27885069/exploring-family-stigma-among-caregivers-of-persons-with-alzheimer-s-disease-the-experiences-of-israeli-arab-caregivers
#17
Hanan Abojabel, Perla Werner
Providing care to persons with Alzheimer's disease poses challenges for spouses and adult children, including experiencing stigmatic beliefs towards themselves-i.e., family stigma. Drawing on the frameworks of ethnicity and stigma and ethnicity and dementia, the current study explored stigmatic experiences among Israeli Arab family caregivers of a person with Alzheimer's disease. Three focus groups with 20 caregivers (adult children and spouses) of persons with Alzheimer's disease were conducted. Data were analyzed using theory-led thematic analysis...
November 24, 2016: Dementia
https://www.readbyqxmd.com/read/27883331/effects-of-altered-rtn3-expression-on-bace1-activity-and-alzheimer-s-neuritic-plaques
#18
Md Golam Sharoar, Riqiang Yan
Reticulon 3 (RTN3), which is a member of the reticulon family of proteins, has a biochemical function of shaping tubular endoplasmic reticulum. RTN3 has also been found to interact with β-site amyloid precursor protein cleaving enzyme 1 (BACE1), which initiates the generation of β-amyloid peptides (Aβ) from amyloid precursor protein. Aβ is the major proteinaceous component in neuritic plaques, which constitute one of the major pathological features in brains of Alzheimer's disease (AD) patients. Mice deficient in or overexpressing RTN3 have altered amyloid deposition through effects on BACE1 expression and activity...
November 24, 2016: Reviews in the Neurosciences
https://www.readbyqxmd.com/read/27882103/identification-of-proteins-suppressing-the-functions-of-oncogenic-phosphatase-of-regenerating-liver-1-and-3
#19
Ju-Dong Lee, Haiyoung Jung, Sang-Hyun Min
The phosphatase of regenerating liver (PRL) family, including PRL-1, PRL-2, and PRL-3, comprises protein tyrosine phosphatases whose deregulation is associated with the tumorigenesis and metastasis of many types of cancer. However, the underlying mechanism is poorly understood. In this study, aiming to increase understanding of the molecular mechanisms underlying the functions of PRL-1 and PRL-3, a yeast two-hybrid system was employed to screen for their interacting proteins. Alignment with the NCBI BLAST database revealed 12 interactive proteins: Synaptic nuclear envelope protein 2, emerin, mannose 6-phosphate receptor-binding protein 1, low-density lipoprotein receptor-related protein 10, Rab acceptor 1, tumor protein D52-like 2, selectin P ligand (SELPLG), guanylate binding protein 1, transmembrane and ubiquitin-like domain-containing 2, NADH:ubiquinone oxidoreductase subunit B8, syndecan 4 and FK506-binding protein 8 (FKBP8)...
November 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/27881145/evaluation-of-efficacy-and-efficiency-of-a-pragmatic-intervention-by-a-social-worker-to-support-informal-caregivers-of-elderly-patients-the-ice-study-study-protocol-for-a-randomized-controlled-trial
#20
Astrid Pozet, Catherine Lejeune, Magalie Bonnet, Sandrine Dabakuyo, Michèle Dion, Philippe Fagnoni, Maryse Gaimard, Geneviève Imbert, Virginie Nerich, Audrey Foubert, Morgane Chotard, Marie Bonin, Amélie Anota, Franck Bonnetain
BACKGROUND: Medical progress and the lifestyle modification have prolonged life expectancy, despite the development of chronic diseases. Support and care for older subjects are often provided by a network of informal caregivers composed of family, friends and neighbors, who are essential in helping older persons to continue living at home. It has been shown that the extent and diversity of informal tasks may jeopardize the physical, mental and social wellbeing of caregivers. METHODS/DESIGN: The aim of the Informal Carers of Elderly cohort is to define, through a longitudinal study, profiles of caregivers of older patients with a diagnosis of one of the following diseases: cancer (breast, prostate, colorectal), neurodegenerative diseases (Parkinson's disease, Alzheimer's disease and similar diseases), neurovascular diseases (stroke), sensory diseases (age-related macular degeneration (AMD)) and heart disease (heart failure)...
November 3, 2016: Trials
keyword
keyword
42458
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"