LIVIVO - Search results -

Search results

Result 1 - 10 of total 25

Search options

Article ; Online: Advances in molecular pathology, diagnosis, and treatment of amyotrophic lateral sclerosis.

Ilieva, Hristelina / Vullaganti, Mithila / Kwan, Justin

2023 Volume 383, Page(s) e075037

Abstract: Although the past two decades have produced exciting discoveries in the genetics and pathology of amyotrophic lateral sclerosis (ALS), progress in developing an effective therapy remains slow. This review summarizes the critical discoveries and outlines ... ...

Abstract	Although the past two decades have produced exciting discoveries in the genetics and pathology of amyotrophic lateral sclerosis (ALS), progress in developing an effective therapy remains slow. This review summarizes the critical discoveries and outlines the advances in disease characterization, diagnosis, imaging, and biomarkers, along with the current status of approaches to ALS care and treatment. Additional knowledge of the factors driving disease progression and heterogeneity will hopefully soon transform the care for patients with ALS into an individualized, multi-prong approach able to prevent disease progression sufficiently to allow for a dignified life with limited disability.
MeSH term(s)	Humans ; Amyotrophic Lateral Sclerosis/diagnosis ; Amyotrophic Lateral Sclerosis/genetics ; Amyotrophic Lateral Sclerosis/therapy ; Pathology, Molecular ; Disease Progression
Language	English
Publishing date	2023-10-27
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	1362901-3
ISSN	1756-1833 ; 0959-8154 ; 0959-8146 ; 0959-8138 ; 0959-535X ; 1759-2151
ISSN (online)	1756-1833
ISSN	0959-8154 ; 0959-8146 ; 0959-8138 ; 0959-535X ; 1759-2151
DOI	10.1136/bmj-2023-075037
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Ua VI Zs.10: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Valproic acid and zonisamide induced hyperammonemic encephalopathy.

Ilieva, Hristelina S / Newman, Joseph W / Fields, Ronald K / Croom, John E

Clinical neurology and neurosurgery

2020 Volume 196, Page(s) 105894

MeSH term(s)	Adult ; Anticonvulsants/adverse effects ; Brain/diagnostic imaging ; Brain Diseases/chemically induced ; Brain Diseases/diagnostic imaging ; Epilepsy/drug therapy ; Humans ; Hyperammonemia/chemically induced ; Hyperammonemia/diagnostic imaging ; Magnetic Resonance Imaging ; Male ; Valproic Acid/adverse effects ; Zonisamide/adverse effects
Chemical Substances	Anticonvulsants ; Zonisamide (459384H98V) ; Valproic Acid (614OI1Z5WI)
Language	English
Publishing date	2020-05-15
Publishing country	Netherlands
Document type	Case Reports ; Journal Article
ZDB-ID	193107-6
ISSN	1872-6968 ; 0303-8467
ISSN (online)	1872-6968
ISSN	0303-8467
DOI	10.1016/j.clineuro.2020.105894
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Ui I Zs.53: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article: Motoneuron Disease: Clinical.

Ilieva, Hristelina / Maragakis, Nicholas J

Advances in neurobiology

2017 Volume 15, Page(s) 191–210

Abstract: ALS is a neurodegenerative disease in which the primary symptoms result in progressive neuromuscular weakness. Recent studies have highlighted that there is significant heterogeneity with regard to anatomical and temporal disease progression. Importantly, ...

Abstract	ALS is a neurodegenerative disease in which the primary symptoms result in progressive neuromuscular weakness. Recent studies have highlighted that there is significant heterogeneity with regard to anatomical and temporal disease progression. Importantly, more recent advances in genetics have revealed new causative genes to the disease. New efforts have focused on the development of biomarkers that could aid in diagnosis, prognosis, and serve as pharmacodynamics markers. Although traditional pharmaceuticals continue to undergo trials for ALS, new therapeutic strategies including stem cell transplantation studies, gene therapies, and antisense therapies targeting some of the familial forms of ALS are gaining momentum.
MeSH term(s)	Amyotrophic Lateral Sclerosis/physiopathology ; Amyotrophic Lateral Sclerosis/therapy ; Disease Progression ; Exercise Therapy ; Frontotemporal Dementia/physiopathology ; Frontotemporal Dementia/therapy ; Genetic Therapy ; Humans ; Motor Neuron Disease/physiopathology ; Motor Neuron Disease/therapy ; Neuroprotective Agents/therapeutic use ; Noninvasive Ventilation ; Nutritional Support ; Oligonucleotides, Antisense/therapeutic use ; Phenotype ; Riluzole/therapeutic use ; Stem Cell Transplantation
Chemical Substances	Neuroprotective Agents ; Oligonucleotides, Antisense ; Riluzole (7LJ087RS6F)
Language	English
Publishing date	2017-07-03
Publishing country	United States
Document type	Journal Article ; Review
ISSN	2190-5215
ISSN	2190-5215
DOI	10.1007/978-3-319-57193-5_7
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article: Motoneuron Disease: Basic Science.

Ilieva, Hristelina / Maragakis, Nicholas J

Advances in neurobiology

2017 Volume 15, Page(s) 163–190

Abstract: ALS is a relentless neurodegenerative disease in which motor neurons are the susceptible neuronal population. Their death results in progressive paresis of voluntary and respiratory muscles. The unprecedented rate of discoveries over the last two decades ...

Abstract	ALS is a relentless neurodegenerative disease in which motor neurons are the susceptible neuronal population. Their death results in progressive paresis of voluntary and respiratory muscles. The unprecedented rate of discoveries over the last two decades have broadened our knowledge of genetic causes and helped delineate molecular pathways. Here we critically review ALS epidemiology, genetics, pathogenic mechanisms, available animal models, and iPS cell technologies with a focus on their translational therapeutic potential. Despite limited clinical success in treatments to date, the new discoveries detailed here offer new models for uncovering disease mechanisms as well as novel strategies for intervention.
MeSH term(s)	Amyotrophic Lateral Sclerosis/epidemiology ; Amyotrophic Lateral Sclerosis/genetics ; Amyotrophic Lateral Sclerosis/physiopathology ; Animals ; C9orf72 Protein/genetics ; Cell Cycle Proteins/genetics ; DNA-Binding Proteins/genetics ; Disease Models, Animal ; Frontotemporal Dementia/epidemiology ; Frontotemporal Dementia/genetics ; Frontotemporal Dementia/physiopathology ; Genes, Modifier/genetics ; Humans ; Induced Pluripotent Stem Cells ; Motor Neuron Disease/epidemiology ; Motor Neuron Disease/genetics ; Motor Neuron Disease/physiopathology ; RNA-Binding Protein FUS/genetics ; Superoxide Dismutase-1/genetics ; Translational Medical Research ; Ubiquitins/genetics
Chemical Substances	C9orf72 Protein ; Cell Cycle Proteins ; DNA-Binding Proteins ; RNA-Binding Protein FUS ; TARDBP protein, human ; UBQLN2 protein, human ; Ubiquitins ; Superoxide Dismutase-1 (EC 1.15.1.1)
Language	English
Publishing date	2017-07-03
Publishing country	United States
Document type	Journal Article ; Review
ISSN	2190-5215
ISSN	2190-5215
DOI	10.1007/978-3-319-57193-5_6
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: Increased synthesis of pro-inflammatory cytokines in C9ORF72 patients.

Pinilla, Gabriel / Kumar, Anupama / Floaters, Mary Kay / Pardo, Carlos A / Rothstein, Jeffrey / Ilieva, Hristelina

Amyotrophic lateral sclerosis & frontotemporal degeneration

2021 Volume 22, Issue 7-8, Page(s) 517–527

Abstract: C9ORF72 hexanucleotide expansion is the most common genetic cause of familial amyotrophic lateral sclerosis (ALS)/fronto-temporal dementia (FTD) disease spectrum. Even though three major mechanisms of disease pathogenesis have been proposed, we lack ... ...

Abstract	C9ORF72 hexanucleotide expansion is the most common genetic cause of familial amyotrophic lateral sclerosis (ALS)/fronto-temporal dementia (FTD) disease spectrum. Even though three major mechanisms of disease pathogenesis have been proposed, we lack detailed understanding of the factors that influence disease onset and progression. We sought to characterize cerebrospinal fluid and sera of C9ORF72 patients via a multiplex assay of 41 chemokines and cytokines in comparison to neurological controls and sporadic ALS patients. We found an increase in synthesis of pro-inflammatory chemokines and cytokines in disease samples and particularly in C9ORF72 patients in comparison to controls. We provide evidence that a CSF pro-inflammatory signature is a feature of C9ORF72-mediated disease.
MeSH term(s)	Amyotrophic Lateral Sclerosis/genetics ; C9orf72 Protein/genetics ; Cytokines/genetics ; DNA Repeat Expansion ; Frontotemporal Dementia/genetics ; Humans
Chemical Substances	C9orf72 Protein ; C9orf72 protein, human ; Cytokines
Language	English
Publishing date	2021-04-30
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2705049-X
ISSN	2167-9223 ; 2167-8421
ISSN (online)	2167-9223
ISSN	2167-8421
DOI	10.1080/21678421.2021.1912100
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 5874: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Targeting TNFα produced by astrocytes expressing amyotrophic lateral sclerosis-linked mutant fused in sarcoma prevents neurodegeneration and motor dysfunction in mice.

Jensen, Brigid K / McAvoy, Kevin J / Heinsinger, Nicolette M / Lepore, Angelo C / Ilieva, Hristelina / Haeusler, Aaron R / Trotti, Davide / Pasinelli, Piera

Glia

2022 Volume 70, Issue 7, Page(s) 1426–1449

Abstract: Genetic mutations that cause amyotrophic lateral sclerosis (ALS), a progressively lethal motor neuron disease, are commonly found in ubiquitously expressed genes. In addition to direct defects within motor neurons, growing evidence suggests that ... ...

Abstract	Genetic mutations that cause amyotrophic lateral sclerosis (ALS), a progressively lethal motor neuron disease, are commonly found in ubiquitously expressed genes. In addition to direct defects within motor neurons, growing evidence suggests that dysfunction of non-neuronal cells is also an important driver of disease. Previously, we demonstrated that mutations in DNA/RNA binding protein fused in sarcoma (FUS) induce neurotoxic phenotypes in astrocytes in vitro, via activation of the NF-κB pathway and release of pro-inflammatory cytokine TNFα. Here, we developed an intraspinal cord injection model to test whether astrocyte-specific expression of ALS-causative FUS
MeSH term(s)	Amyotrophic Lateral Sclerosis/pathology ; Animals ; Astrocytes/metabolism ; DNA-Binding Proteins/metabolism ; Mice ; Motor Neurons/pathology ; Sarcoma/metabolism ; Sarcoma/pathology ; Tumor Necrosis Factor-alpha/metabolism
Chemical Substances	DNA-Binding Proteins ; Tumor Necrosis Factor-alpha
Language	English
Publishing date	2022-04-26
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
ZDB-ID	639414-0
ISSN	1098-1136 ; 0894-1491
ISSN (online)	1098-1136
ISSN	0894-1491
DOI	10.1002/glia.24183
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 2345: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article ; Online: Mitochondria-associated membrane collapse is a common pathomechanism in SIGMAR1- and SOD1-linked ALS.

Watanabe, Seiji / Ilieva, Hristelina / Tamada, Hiromi / Nomura, Hanae / Komine, Okiru / Endo, Fumito / Jin, Shijie / Mancias, Pedro / Kiyama, Hiroshi / Yamanaka, Koji

EMBO molecular medicine

2016 Volume 8, Issue 12, Page(s) 1421–1437

Abstract: A homozygous mutation in the gene for sigma 1 receptor (Sig1R) is a cause of inherited juvenile amyotrophic lateral sclerosis (ALS16). Sig1R localizes to the mitochondria-associated membrane (MAM), which is an interface of mitochondria and endoplasmic ... ...

Abstract	A homozygous mutation in the gene for sigma 1 receptor (Sig1R) is a cause of inherited juvenile amyotrophic lateral sclerosis (ALS16). Sig1R localizes to the mitochondria-associated membrane (MAM), which is an interface of mitochondria and endoplasmic reticulum. However, the role of the MAM in ALS is not fully elucidated. Here, we identified a homozygous p.L95fs mutation of Sig1R as a novel cause of ALS16. ALS-linked Sig1R variants were unstable and incapable of binding to inositol 1,4,5-triphosphate receptor type 3 (IP
MeSH term(s)	Amyotrophic Lateral Sclerosis/genetics ; Amyotrophic Lateral Sclerosis/pathology ; Animals ; Child ; Endoplasmic Reticulum/physiology ; Female ; Humans ; Mice ; Mitochondrial Membranes/physiology ; Receptors, sigma/genetics ; Superoxide Dismutase-1/genetics ; Sigma-1 Receptor
Chemical Substances	Receptors, sigma ; Sod1 protein, mouse (EC 1.15.1.1) ; Superoxide Dismutase-1 (EC 1.15.1.1)
Language	English
Publishing date	2016-12-01
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2467145-9
ISSN	1757-4684 ; 1757-4676
ISSN (online)	1757-4684
ISSN	1757-4676
DOI	10.15252/emmm.201606403
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 6784: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Mitochondria‐associated membrane collapse is a common pathomechanism in SIGMAR1‐ and SOD1‐linked ALS

Seiji Watanabe / Hristelina Ilieva / Hiromi Tamada / Hanae Nomura / Okiru Komine / Fumito Endo / Shijie Jin / Pedro Mancias / Hiroshi Kiyama / Koji Yamanaka

EMBO Molecular Medicine, Vol 8, Iss 12, Pp 1421-

2016 Volume 1437

Abstract: Abstract A homozygous mutation in the gene for sigma 1 receptor (Sig1R) is a cause of inherited juvenile amyotrophic lateral sclerosis (ALS16). Sig1R localizes to the mitochondria‐associated membrane (MAM), which is an interface of mitochondria and ... ...

Abstract	Abstract A homozygous mutation in the gene for sigma 1 receptor (Sig1R) is a cause of inherited juvenile amyotrophic lateral sclerosis (ALS16). Sig1R localizes to the mitochondria‐associated membrane (MAM), which is an interface of mitochondria and endoplasmic reticulum. However, the role of the MAM in ALS is not fully elucidated. Here, we identified a homozygous p.L95fs mutation of Sig1R as a novel cause of ALS16. ALS‐linked Sig1R variants were unstable and incapable of binding to inositol 1,4,5‐triphosphate receptor type 3 (IP3R3). The onset of mutant Cu/Zn superoxide dismutase (SOD1)‐mediated ALS disease in mice was accelerated when Sig1R was deficient. Moreover, either deficiency of Sig1R or accumulation of mutant SOD1 induced MAM disruption, resulting in mislocalization of IP3R3 from the MAM, calpain activation, and mitochondrial dysfunction. Our findings indicate that a loss of Sig1R function is causative for ALS16, and collapse of the MAM is a common pathomechanism in both Sig1R‐ and SOD1‐linked ALS. Furthermore, our discovery of the selective enrichment of IP3R3 in motor neurons suggests that integrity of the MAM is crucial for the selective vulnerability in ALS.
Keywords	amyotrophic lateral sclerosis ; inositol 1,4,5‐triphosphate receptor type 3 ; mitochondria‐associated membrane ; sigma 1 receptor ; Medicine (General) ; R5-920 ; Genetics ; QH426-470
Language	English
Publishing date	2016-12-01T00:00:00Z
Publisher	Wiley
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

Full text online

Full text

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article ; Online: Non-cell autonomous toxicity in neurodegenerative disorders: ALS and beyond.

Ilieva, Hristelina / Polymenidou, Magdalini / Cleveland, Don W

The Journal of cell biology

2009 Volume 187, Issue 6, Page(s) 761–772

Abstract: Selective degeneration and death of one or more classes of neurons is the defining feature of human neurodegenerative disease. Although traditionally viewed as diseases mainly affecting the most vulnerable neurons, in most instances of inherited disease ... ...

Abstract	Selective degeneration and death of one or more classes of neurons is the defining feature of human neurodegenerative disease. Although traditionally viewed as diseases mainly affecting the most vulnerable neurons, in most instances of inherited disease the causative genes are widely-usually ubiquitously-expressed. Focusing on amyotrophic lateral sclerosis (ALS), especially disease caused by dominant mutations in Cu/Zn superoxide dismutase (SOD1), we review here the evidence that it is the convergence of damage developed within multiple cell types, including within neighboring nonneuronal supporting cells, which is crucial to neuronal dysfunction. Damage to a specific set of key partner cells as well as to vulnerable neurons may account for the selective susceptibility of neuronal subtypes in many human neurodegenerative diseases, including Huntington's disease (HD), Parkinson's disease (PD), prion disease, the spinal cerebellar ataxias (SCAs), and Alzheimer's disease (AD).
MeSH term(s)	Amyotrophic Lateral Sclerosis/enzymology ; Amyotrophic Lateral Sclerosis/genetics ; Amyotrophic Lateral Sclerosis/pathology ; Animals ; Astrocytes/enzymology ; Astrocytes/pathology ; Axonal Transport ; Capillaries/enzymology ; Capillaries/pathology ; Cell Death ; Endoplasmic Reticulum/enzymology ; Endoplasmic Reticulum/pathology ; Glutamic Acid/metabolism ; Humans ; Microglia/enzymology ; Microglia/pathology ; Mutation ; Nerve Degeneration/enzymology ; Nerve Degeneration/genetics ; Nerve Degeneration/pathology ; Neurons/enzymology ; Neurons/pathology ; Stress, Physiological ; Superoxide Dismutase/genetics ; Superoxide Dismutase/metabolism ; Superoxide Dismutase-1 ; Superoxides/metabolism ; T-Lymphocytes/enzymology ; T-Lymphocytes/pathology
Chemical Substances	SOD1 protein, human ; Superoxides (11062-77-4) ; Glutamic Acid (3KX376GY7L) ; Superoxide Dismutase (EC 1.15.1.1) ; Superoxide Dismutase-1 (EC 1.15.1.1)
Language	English
Publishing date	2009-12-01
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	218154-x
ISSN	1540-8140 ; 0021-9525
ISSN (online)	1540-8140
ISSN	0021-9525
DOI	10.1083/jcb.200908164
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Ub I Zs.190: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article: Non-cell autonomous toxicity in neurodegenerative disorders: ALS and beyond

Ilieva, Hristelina / Polymenidou, Magdalini / Cleveland, Don W

Journal of cell biology. 2009, v. 187, no. 6

2009

Abstract	Selective degeneration and death of one or more classes of neurons is the defining feature of human neurodegenerative disease. Although traditionally viewed as diseases mainly affecting the most vulnerable neurons, in most instances of inherited disease the causative genes are widely--usually ubiquitously--expressed. Focusing on amyotrophic lateral sclerosis (ALS), especially disease caused by dominant mutations in Cu/Zn superoxide dismutase (SOD1), we review here the evidence that it is the convergence of damage developed within multiple cell types, including within neighboring nonneuronal supporting cells, which is crucial to neuronal dysfunction. Damage to a specific set of key partner cells as well as to vulnerable neurons may account for the selective susceptibility of neuronal subtypes in many human neurodegenerative diseases, including Huntington's disease (HD), Parkinson's disease (PD), prion disease, the spinal cerebellar ataxias (SCAs), and Alzheimer's disease (AD).
Language	English
Size	p. 761-772.
Publishing place	The Rockefeller University Press
Document type	Article
ZDB-ID	218154-x
ISSN	1540-8140 ; 0021-9525
ISSN (online)	1540-8140
ISSN	0021-9525
Database	NAL-Catalogue (AGRICOLA)

In stock of ZB MED Bonn / Germany

Z 56/32: Show issues

Order via subito

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Details ▾
- See ZB MED holdings
- Order with fees

To top

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

More links

Kategorien

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

Inter-library loan at ZB MED

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Bonn / Germany

Order via subito

Inter-library loan at ZB MED