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Article ; Online: Genetic Architecture of Primary Tauopathies.

Gallo, Daniel / Ruiz, Agustín / Sánchez-Juan, Pascual

2022 Volume 518, Page(s) 27–37

Abstract: Primary Tauopathies are a group of diseases defined by the accumulation of Tau, in which the alteration of this protein is the primary driver of the neurodegenerative process. In addition to the classical syndromes (Pick's disease (PiD), progressive ... ...

Abstract	Primary Tauopathies are a group of diseases defined by the accumulation of Tau, in which the alteration of this protein is the primary driver of the neurodegenerative process. In addition to the classical syndromes (Pick's disease (PiD), progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and argyrophilic grain disease (AGD)), new entities, like primary age-related Tauopathy (PART), have been recently described. Except for the classical Richardson's syndrome phenotype in PSP, the correlation between the clinical picture of the primary Tauopathies and underlying pathology is poor. This fact has challenged genetic studies. However, thanks to multicenter collaborations, several genome-wide association studies are helping us unravel the genetic structure of these diseases. The most relevant risk factor revealed by these studies is the Tau gene (MAPT), which, in addition to mutations causing rare familial forms, plays a fundamental role in sporadic cases of PSP and CBD in which there is a strong predominance of the H1 and H1c haplotypes. But outside of MAPT, several other genes have been robustly associated with PSP. These findings, pointing towards multifactorial causation, imply the participation of several pathways involving the myelin sheath integrity, the endoplasmic reticulum unfolded protein response, microglia, intracellular vesicle trafficking, or the ubiquitin-proteasome system. Additionally, GWAS show a high degree of genetic overlap across different Tauopathies. This is especially salient between PSP and CBD, but also GWAS studying the recently described PART phenotype shows genetic overlap with genes that promote Tau pathology and with others associated with Alzheimer's disease.
MeSH term(s)	Humans ; Genome-Wide Association Study ; Tauopathies/genetics ; Tauopathies/metabolism ; tau Proteins/genetics ; tau Proteins/metabolism ; Supranuclear Palsy, Progressive/genetics ; Alzheimer Disease/metabolism ; Multicenter Studies as Topic
Chemical Substances	tau Proteins
Language	English
Publishing date	2022-05-21
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	196739-3
ISSN	1873-7544 ; 0306-4522
ISSN (online)	1873-7544
ISSN	0306-4522
DOI	10.1016/j.neuroscience.2022.05.022
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Article ; Online: Symptomatic and Disease-Modifying Therapy Pipeline for Alzheimer's Disease: Towards a Personalized Polypharmacology Patient-Centered Approach.

Morató, Xavier / Pytel, Vanesa / Jofresa, Sara / Ruiz, Agustín / Boada, Mercè

International journal of molecular sciences

2022 Volume 23, Issue 16

Abstract: Since 1906, when Dr. Alois Alzheimer first described in a patient "a peculiar severe disease process of the cerebral cortex", people suffering from this pathology have been waiting for a breakthrough therapy. Alzheimer's disease (AD) is an irreversible, ... ...

Abstract	Since 1906, when Dr. Alois Alzheimer first described in a patient "a peculiar severe disease process of the cerebral cortex", people suffering from this pathology have been waiting for a breakthrough therapy. Alzheimer's disease (AD) is an irreversible, progressive neurodegenerative brain disorder and the most common form of dementia in the elderly with a long presymptomatic phase. Worldwide, approximately 50 million people are living with dementia, with AD comprising 60-70% of cases. Pathologically, AD is characterized by the deposition of amyloid β-peptide (Aβ) in the neuropil (neuritic plaques) and blood vessels (amyloid angiopathy), and by the accumulation of hyperphosphorylated tau in neurons (neurofibrillary tangles) in the brain, with associated loss of synapses and neurons, together with glial activation, and neuroinflammation, resulting in cognitive deficits and eventually dementia. The current competitive landscape in AD consists of symptomatic treatments, of which there are currently six approved medications: three AChEIs (donepezil, rivastigmine, and galantamine), one NMDA-R antagonist (memantine), one combination therapy (memantine/donepezil), and GV-971 (sodium oligomannate, a mixture of oligosaccharides derived from algae) only approved in China. Improvements to the approved therapies, such as easier routes of administration and reduced dosing frequencies, along with the developments of new strategies and combined treatments are expected to occur within the next decade and will positively impact the way the disease is managed. Recently, Aducanumab, the first disease-modifying therapy (DMT) has been approved for AD, and several DMTs are in advanced stages of clinical development or regulatory review. Small molecules, mAbs, or multimodal strategies showing promise in animal studies have not confirmed that promise in the clinic (where small to moderate changes in clinical efficacy have been observed), and therefore, there is a significant unmet need for a better understanding of the AD pathogenesis and the exploration of alternative etiologies and therapeutic effective disease-modifying therapies strategies for AD. Therefore, a critical review of the disease-modifying therapy pipeline for Alzheimer's disease is needed.
MeSH term(s)	Alzheimer Disease/drug therapy ; Alzheimer Disease/pathology ; Amyloid beta-Peptides ; Animals ; Donepezil ; Humans ; Memantine/therapeutic use ; Patient-Centered Care ; Polypharmacology
Chemical Substances	Amyloid beta-Peptides ; Donepezil (8SSC91326P) ; Memantine (W8O17SJF3T)
Language	English
Publishing date	2022-08-18
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms23169305
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Article ; Online: Molecular Cytogenetic and Y Copy Number Analysis of a Reciprocal ECAY-ECA13 Translocation in a Stallion with Complete Meiotic Arrest.

Castaneda, Caitlin / Ruiz, Agustin J / Tibary, Ahmed / Raudsepp, Terje

Genes

2021 Volume 12, Issue 12

Abstract: We present a detailed molecular cytogenetic analysis of a reciprocal translocation between horse (ECA) chromosomes Y and 13 in a Friesian stallion with complete meiotic arrest and azoospermia. We use dual-color fluorescence in situ hybridization with ... ...

Abstract	We present a detailed molecular cytogenetic analysis of a reciprocal translocation between horse (ECA) chromosomes Y and 13 in a Friesian stallion with complete meiotic arrest and azoospermia. We use dual-color fluorescence in situ hybridization with select ECAY and ECA13 markers and show that the translocation breakpoint in ECAY is in the multicopy region and in ECA13, at the centromere. One resulting derivative chromosome, Y;13p, comprises of ECAY heterochromatin (
MeSH term(s)	Animals ; Centromere/genetics ; Cytogenetic Analysis/methods ; Cytogenetics/methods ; DNA Copy Number Variations/genetics ; Heterochromatin/genetics ; Horses/genetics ; Male ; Meiosis/genetics ; Translocation, Genetic/genetics ; Y Chromosome/genetics
Chemical Substances	Heterochromatin
Language	English
Publishing date	2021-11-26
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes12121892
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Article: Exosomes-Based Nanomedicine for Neurodegenerative Diseases: Current Insights and Future Challenges.

Cano, Amanda / Muñoz-Morales, Álvaro / Sánchez-López, Elena / Ettcheto, Miren / Souto, Eliana B / Camins, Antonio / Boada, Mercè / Ruíz, Agustín

Pharmaceutics

2023 Volume 15, Issue 1

Abstract: Neurodegenerative diseases constitute a group of pathologies whose etiology remains unknown in many cases, and there are no treatments that stop the progression of such diseases. Moreover, the existence of the blood-brain barrier is an impediment to the ... ...

Abstract	Neurodegenerative diseases constitute a group of pathologies whose etiology remains unknown in many cases, and there are no treatments that stop the progression of such diseases. Moreover, the existence of the blood-brain barrier is an impediment to the penetration of exogenous molecules, including those found in many drugs. Exosomes are extracellular vesicles secreted by a wide variety of cells, and their primary functions include intercellular communication, immune responses, human reproduction, and synaptic plasticity. Due to their natural origin and molecular similarities with most cell types, exosomes have emerged as promising therapeutic tools for numerous diseases. Specifically, neurodegenerative diseases have shown to be a potential target for this nanomedicine strategy due to the difficult access to the brain and the strategy's pathophysiological complexity. In this regard, this review explores the most important biological-origin drug delivery systems, innovative isolation methods of exosomes, their physicochemical characterization, drug loading, cutting-edge functionalization strategies to target them within the brain, the latest research studies in neurodegenerative diseases, and the future challenges of exosomes as nanomedicine-based therapeutic tools.
Language	English
Publishing date	2023-01-16
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2527217-2
ISSN	1999-4923
ISSN	1999-4923
DOI	10.3390/pharmaceutics15010298
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Article: Molecular Cytogenetic and Y Copy Number Analysis of a Reciprocal ECAY-ECA13 Translocation in a Stallion with Complete Meiotic Arrest

Castaneda, Caitlin / Ruiz, Agustin J. / Tibary, Ahmed / Raudsepp, Terje

Genes. 2021 Nov. 26, v. 12, no. 12

2021

Abstract	We present a detailed molecular cytogenetic analysis of a reciprocal translocation between horse (ECA) chromosomes Y and 13 in a Friesian stallion with complete meiotic arrest and azoospermia. We use dual-color fluorescence in situ hybridization with select ECAY and ECA13 markers and show that the translocation breakpoint in ECAY is in the multicopy region and in ECA13, at the centromere. One resulting derivative chromosome, Y;13p, comprises of ECAY heterochromatin (ETSTY7 array), a small single copy and partial Y multicopy region, and ECA13p. Another derivative chromosome 13q;Y comprises of ECA13q and most of the single copy ECAY, the pseudoautosomal region and a small part of the Y multicopy region. A copy number (CN) analysis of select ECAY multicopy genes shows that the Friesian stallion has significantly (p < 0.05) reduced CNs of TSPY, ETSTY1, and ETSTY5, suggesting that the translocation may not be completely balanced, and genetic material is lost. We discuss likely meiotic behavior of abnormal chromosomes and theorize about the possible effect of the aberration on Y regulation and the progression of meiosis. The study adds a unique case to equine clinical cytogenetics and contributes to understanding the role of the Y chromosome in male meiosis.
Keywords	Y chromosome ; centromeres ; cytogenetic analysis ; fluorescence ; heterochromatin ; hybridization ; meiosis ; reciprocal translocation ; stallions
Language	English
Dates of publication	2021-1126
Publishing place	Multidisciplinary Digital Publishing Institute
Document type	Article
ZDB-ID	2527218-4
ISSN	2073-4425
ISSN	2073-4425
DOI	10.3390/genes12121892
Database	NAL-Catalogue (AGRICOLA)

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Article: Investigation of male and female infertility in llamas and alpacas

Tibary, Ahmed / Campbell, Alexis / Rodriguez, Jacobo S / Ruiz, Agustin J / Patino, Cristian / Ciccarelli, Michela

Reproduction, fertility, and development. 2021, v. 33, no. 2

2021

Abstract: Llamas and alpacas are important production animals in South America, with increasing interest in other parts of the world. Poor reproductive efficiency combined with several unique anatomical and physiological reproductive features offer challenges in ... ...

Abstract	Llamas and alpacas are important production animals in South America, with increasing interest in other parts of the world. Poor reproductive efficiency combined with several unique anatomical and physiological reproductive features offer challenges in the diagnosis and treatment of infertility in camelids. This review presents an approach to the clinical investigation and common causes of infertility and subfertility in the male and female. The selection of males for breeding should be made based on complete evaluation to eliminate congenital and possibly hereditary disorders. Common disorders of the male reproductive system include testicular hypoplasia, testicular and epididymal cysts and testicular degeneration. Semen evaluation presents some challenges owing to the viscous nature of the ejaculate in these species. Females should be screened for congenital genital defects before breeding. Causes of subfertility in the female are dominated by ovarian and uterine disorders. A systematic clinical approach and the use of endometrial biopsy and advanced techniques, such as laparoscopy, allow early identification of these disorders. Further research is needed for continued understanding of the reproductive pathological processes in these species.
Keywords	Camelidae ; biopsy ; endometrium ; epididymis ; female fertility ; females ; laparoscopy ; males ; reproductive efficiency ; testes ; South America
Language	English
Size	p. 20-30.
Publishing place	CSIRO Publishing
Document type	Article
Note	NAL-AP-2-clean
ZDB-ID	1019913-5
ISSN	1448-5990 ; 1031-3613
ISSN (online)	1448-5990
ISSN	1031-3613
DOI	10.1071/RD20257
Database	NAL-Catalogue (AGRICOLA)

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Article: Cognitive and Neuropsychiatric Manifestations of COVID-19 and Effects on Elderly Individuals With Dementia.

Alonso-Lana, Silvia / Marquié, Marta / Ruiz, Agustín / Boada, Mercè

Frontiers in aging neuroscience

2020 Volume 12, Page(s) 588872

Abstract: The coronavirus disease 2019 (COVID-19) caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has rapidly spread worldwide and has had unprecedented effects in healthcare systems, economies and society. COVID-19 clinical presentation ...

Abstract	The coronavirus disease 2019 (COVID-19) caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has rapidly spread worldwide and has had unprecedented effects in healthcare systems, economies and society. COVID-19 clinical presentation primarily affects the respiratory system causing bilateral pneumonia, but it is increasingly being recognized as a systemic disease, with neurologic manifestations reported in patients with mild symptoms but, most frequently, in those in a severe condition. Elderly individuals are at high risk of developing severe forms of COVID-19 due to factors associated with aging and a higher prevalence of medical comorbidities and, therefore, they are more vulnerable to possible lasting neuropsychiatric and cognitive impairments. Several reports have described insomnia, depressed mood, anxiety, post-traumatic stress disorder and cognitive impairment in a proportion of patients after discharge from the hospital. The potential mechanisms underlying these symptoms are not fully understood but are probably multifactorial, involving direct neurotrophic effect of SARS-CoV-2, consequences of long intensive care unit stays, the use of mechanical ventilation and sedative drugs, brain hypoxia, systemic inflammation, secondary effects of medications used to treat COVID-19 and dysfunction of peripheral organs. Chronic diseases such as dementia are a particular concern not only because they are associated with higher rates of hospitalization and mortality but also because COVID-19 further exacerbates the vulnerability of those with cognitive impairment. In patients with dementia, COVID-19 frequently has an atypical presentation with mental status changes complicating the early identification of cases. COVID-19 has had a dramatical impact in long-term care facilities, where rates of infection and mortality have been very high. Community measures implemented to slow the spread of the virus have forced to social distancing and cancelation of cognitive stimulation programs, which may have contributed to generate loneliness, behavioral symptoms and worsening of cognition in patients with dementia. COVID-19 has impacted the functioning of Memory Clinics, research programs and clinical trials in the Alzheimer's field, triggering the implementation of telemedicine. COVID-19 survivors should be periodically evaluated with comprehensive cognitive and neuropsychiatric assessments, and specific mental health and cognitive rehabilitation programs should be provided for those suffering long-term cognitive and psychiatric sequelae.
Keywords	covid19
Language	English
Publishing date	2020-10-26
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2558898-9
ISSN	1663-4365
ISSN	1663-4365
DOI	10.3389/fnagi.2020.588872
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Article ; Online: Genome research in pre-dementia stages of Alzheimer's disease.

Moreno-Grau, Sonia / Ruiz, Agustín

Expert reviews in molecular medicine

2016 Volume 18, Page(s) e11

Abstract: Genetic characterization of individuals at risk of Alzheimer's disease (AD), i.e. people having amyloid deposits in the brain without symptoms, people suffering from subjective cognitive decline (SCD) or mild cognitive impairment (MCI), has spurred the ... ...

Abstract	Genetic characterization of individuals at risk of Alzheimer's disease (AD), i.e. people having amyloid deposits in the brain without symptoms, people suffering from subjective cognitive decline (SCD) or mild cognitive impairment (MCI), has spurred the interests of researchers. However, their pre-dementia genetic profile remains mostly unexplored. In this study, we reviewed the loci related to phenotypes of AD, MCI and SCD from literature and performed the first meta-analyses evaluating the role of apolipoprotein E (APOE) in the risk of conversion from a healthy status to MCI and SCD. For AD dementia risk, an increased number of loci have been identified; to date, 28 genes have been associated with Late Onset AD. In MCI syndrome, APOE is confirmed as a pheno-conversion factor leading from MCI to AD, and clusterin is a promising candidate. Additionally, our meta-analyses revealed APOE as genetic risk factor to convert from a healthy status to MCI [OR = 1.849 (1.587-2.153); P = 2.80 × 10-15] and to a lesser extent from healthy status to SCD [OR = 1.151 (1.015-1.304); P = 0.028]. Thus, we believe that genetic studies in longitudinal SCD and MCI series may provide new therapeutic targets and improve the existing knowledge of AD. This type of studies must be completed on healthy subjects to better understand the natural disease resistance to brain insults and neurodegeneration.
MeSH term(s)	Alzheimer Disease/diagnosis ; Alzheimer Disease/genetics ; Alzheimer Disease/physiopathology ; Biomarkers ; Brain/metabolism ; Brain/pathology ; Brain/physiopathology ; Cognitive Dysfunction/genetics ; Cognitive Dysfunction/physiopathology ; Dementia/diagnosis ; Dementia/genetics ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genomics/methods ; Humans ; Inheritance Patterns ; Phenotype ; Quantitative Trait Loci ; Risk Factors
Chemical Substances	Biomarkers
Language	English
Publishing date	2016-05-30
Publishing country	England
Document type	Journal Article ; Meta-Analysis ; Review
ISSN	1462-3994
ISSN (online)	1462-3994
DOI	10.1017/erm.2016.12
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Article: Supplemental Nicotinic Acid Elevates NAD

Pollard, Charley-Lea / Gibb, Zamira / Clulow, Jennifer / Ruiz, Agustin / Sheridan, Alecia / Bahrami, Mohammad / Swegen, Aleona / Grupen, Christopher G

Animals : an open access journal from MDPI

2022 Volume 12, Issue 11

Abstract: A deficiency in ... ...

Abstract	A deficiency in NAD
Language	English
Publishing date	2022-05-27
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2606558-7
ISSN	2076-2615
ISSN	2076-2615
DOI	10.3390/ani12111383
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Article: Azoospermia and Y Chromosome-Autosome Translocation in a Friesian Stallion.

Ruiz, Agustin J / Castaneda, Caitlin / Raudsepp, Terje / Tibary, Ahmed

Journal of equine veterinary science

2019 Volume 82, Page(s) 102781

Abstract: This case report describes spermatogenic arrest and azoospermia in a stallion with a unique Y chromosome-autosome translocation. Clinical diagnosis of azoospermia was based on history of infertility and evaluation of ejaculates collected for artificial ... ...

Abstract	This case report describes spermatogenic arrest and azoospermia in a stallion with a unique Y chromosome-autosome translocation. Clinical diagnosis of azoospermia was based on history of infertility and evaluation of ejaculates collected for artificial insemination. Clinical and ultrasonographic evaluation of the external and internal genitalia did not reveal any abnormalities except for smaller than normal testicular size. Azoospermia of testicular origin was confirmed by determining alkaline phosphatase concentration in semen. Histological evaluation of testicular tissue after castration confirmed early spermatogenic arrest. Cytogenetic evaluation showed the presence of translocation between the Y chromosome and chromosome 13. To the authors' knowledge, this is the first case of azoospermia with a cytogenetically detected Y chromosome abnormality, suggesting that the horse Y chromosome may carry sequences critical for normal spermatogenesis.
MeSH term(s)	Animals ; Azoospermia/veterinary ; Horses ; Humans ; Infertility, Male/veterinary ; Male ; Spermatogenesis ; Testis ; Y Chromosome
Language	English
Publishing date	2019-07-11
Publishing country	United States
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
ZDB-ID	2102631-2
ISSN	1542-7412 ; 0737-0806
ISSN (online)	1542-7412
ISSN	0737-0806
DOI	10.1016/j.jevs.2019.07.002
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