نتایج جستجو برای: als gene

تعداد نتایج: 1166211  

Journal: :Journal of neuropathology and experimental neurology 2014
Leeanne McGurk Virginia M Lee John Q Trojanowksi Vivianna M Van Deerlin Edward B Lee Nancy M Bonini

Amyotrophic lateral sclerosis (ALS) is an adult-onset motor neuron disease in which the loss of spinal cord motor neurons leads to paralysis and death within a few years of clinical disease onset. In almost all cases of ALS, transactive response DNA binding protein of 43 kDa (TDP-43) forms cytoplasmic neuronal inclusions. A second causative gene for a subset of ALS is fused in sarcoma, an RNA b...

2016
Kim A. Staats Stephanie Humblet-Baron Andre Bento-Abreu Wendy Scheveneels Alexandros Nikolaou Kato Deckers Robin Lemmens An Goris Jo A. Van Ginderachter Philip Van Damme Chihiro Hisatsune Katsuhiko Mikoshiba Adrian Liston Wim Robberecht Ludo Van Den Bosch

Amyotrophic lateral sclerosis (ALS) is a devastating progressive neurodegenerative disease characterized by the selective death of motor neurons. Disease pathophysiology is complex and not yet fully understood. Higher gene expression of the inositol 1,4,5-trisphosphate receptor 2 gene (ITPR2), encoding the IP3 receptor 2 (IP3R2), was detected in sporadic ALS patients. Here, we demonstrate that ...

Journal: :American journal of physiology. Endocrinology and metabolism 2001
P J Delhanty C D Scott S Babu R C Baxter

The initiation of liver regeneration is regulated by endogenously produced growth factors and cytokines and is accompanied by suppression of growth hormone (GH) binding to hepatocytes. We have demonstrated some of these factors, particularly GH, which modulate acid-labile subunit (ALS) expression in vitro. Consequently, we investigated ALS hepatic mRNA and serum levels in rats for 24 h after pa...

2013
Stephanie A. Fernandes Andrew G. L. Douglas Miguel A. Varela Matthew J. A. Wood Yoshitsugu Aoki

Amyotrophic lateral sclerosis (ALS) is a progressive and lethal disease of motor neuron degeneration, leading to paralysis of voluntary muscles and death by respiratory failure within five years of onset. Frontotemporal dementia (FTD) is characterised by degeneration of frontal and temporal lobes, leading to changes in personality, behaviour, and language, culminating in death within 5-10 years...

Journal: :Journal of neurology, neurosurgery, and psychiatry 2014
Adriano Chiò Stefania Battistini Andrea Calvo Claudia Caponnetto Francesca L Conforti Massimo Corbo Fabio Giannini Jessica Mandrioli Gabriele Mora Mario Sabatelli Clara Ajmone Enza Mastro Debora Pain Paola Mandich Silvana Penco Gabriella Restagno Marcella Zollino Antonella Surbone

The clinical approach to patients with amyotrophic lateral sclerosis (ALS) has been largely modified by the identification of novel genes, the detection of gene mutations in apparently sporadic patients, and the discovery of the strict genetic and clinical relation between ALS and frontotemporal dementia (FTD). As a consequence, clinicians are increasingly facing the dilemma on how to handle ge...

Journal: :Journal of neuroimmunology 2011
Rongzhen Zhang Kenneth G Hadlock Hien Do Stephanie Yu Ronald Honrada Stacey Champion Dallas Forshew Catherine Madison Jonathan Katz Robert G Miller Michael S McGrath

The aim of this study was to identify gene expression profiles in peripheral blood mononuclear cells (PBMCs) from sporadic amyotrophic lateral sclerosis (sALS) patients to gain insights into the pathogenesis of ALS. We found that upregulation of LPS/TLR4-signaling associated genes was observed in the PMBCs from sALS patients after short-term cultivation, and that elevated levels of gene express...

2017
Philip Van Damme Wim Robberecht Ludo Van Den Bosch

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder that primarily affects the motor system and presents with progressive muscle weakness. Most patients survive for only 2-5 years after disease onset, often due to failure of the respiratory muscles. ALS is a familial disease in ∼10% of patients, with the remaining 90% developing sporadic ALS. Over the past decade, major advances...

Journal: :BMC Neurology 2006
Parastoo Momeni Jennifer Schymick Shushant Jain Mark R Cookson Nigel J Cairns Elisa Greggio Matthew J Greenway Stephen Berger Stuart Pickering-Brown Adriano Chiò Hon Chung Fung David M Holtzman Edward D Huey Eric M Wassermann Jennifer Adamson Michael L Hutton Ekaterina Rogaeva Peter St George-Hyslop Jeffrey D Rothstein Orla Hardiman Jordan Grafman Andrew Singleton John Hardy Bryan J Traynor

BACKGROUND A new locus for amyotrophic lateral sclerosis--frontotemporal dementia (ALS-FTD) has recently been ascribed to chromosome 9p. METHODS We identified chromosome 9p segregating haplotypes within two families with ALS-FTD (F476 and F2) and undertook mutational screening of candidate genes within this locus. RESULTS Candidate gene sequencing at this locus revealed the presence of a di...

2012
Ryu Katsumata Shinsuke Ishigaki Masahisa Katsuno Kaori Kawai Jun Sone Zhe Huang Hiroaki Adachi Fumiaki Tanaka Fumihiko Urano Gen Sobue

BACKGROUND Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by progressive death of motor neurons. Although the pathogenesis of ALS remains unclear, several cellular processes are known to be involved, including apoptosis. A previous study revealed the apoptosis-related gene c-Abl to be upregulated in sporadic ALS motor neurons. METHODOLOGY/FINDINGS We in...

Journal: :Journal of medical genetics 2017
Ai-Ling Ji Xia Zhang Wei-Wei Chen Wen-Juan Huang

Recent genetic discoveries have dramatically changed our understanding of two major neurodegenerative conditions. Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are common, devastating diseases of the brain. For decades, ALS and FTD were classified as movement and cognitive disorders, respectively, due to their distinct clinical phenotypes. The recent identification of ch...

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