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Genotype-phenotype study in patients with VCP valosin-containing protein mutations associated with multisystem proteinopathy.

Genotype-phenotype study in patients with VCP valosin-containing protein mutations associated with multisystem proteinopathy. Clin Genet. 2017 Jul 10;: Authors: Al-Obeidi E, Al-Tahan S, Surampalli A, Goyal N, Wang A, Hermann A, Omizo M, Smith C, Mozaffar T, Kimonis V Abstract Mutations in valosin-containing protein (VCP), an ATPase involved in protein degradation and autophagy, cause VCP disease, a progressive autosomal dominant adult onset multisystem proteinopathy. The goal of this study is to examine if phenotypic differences in this disorder could be explained by the specific gene mutations. We therefore studied 231 individuals (118 males, 113 females) from 36 families carrying 15 different VCP mutations. We analyzed correlation between the different mutations and prevalence, age of onset and severity of myopathy, PDB, and FTD, and other comorbidities. Myopathy, PDB and FTD was present in 90%, 42% and 30% of the patients respectively, beginning at an average age of 43 years, 41 years, and 56 years respectively. Approximately 9% of patients with VCP mutations had an ALS phenotype, 4% had been diagnosed with Parkinson's disease (PD), and 2% had been diagnosed with Alzheimer's disease (AD). Large inter and intra-familial variation made establishing correlations difficult. We did not find a correlation between the mutation type and the incidence of any of the clinical features associated with VCP disease, except for the absence of PDB with the R159C muta...
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research

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In conclusion, the 2‐benzylidene‐1‐tetralone derivatives can be considered as lead compounds to design a new class of dual acting adenosine A1/A2A receptor antagonists that may have potential in treating both dementia and locomotor deficits in Parkinson's disease. This article is protected by copyright. All rights reserved. Substitution of 2‐benzylidene‐1‐tetralone with a hydroxy group on ring A and/or B played a key role in modulating the binding affinity and selectivity for the adenosine A1 and A2A receptors. Generally, C5‐hydroxy substitution on ring A favored A1 affinity, while C4′‐hydroxy substi...
Source: Chemical Biology and Drug Design - Category: Biology Authors: Tags: Research Article Source Type: research
This article is open to POST-PUBLICATION REVIEW. Registered readers (see "For Readers") may comment by clicking on ABSTRACT on the issue's contents page. PMID: 28719359 [PubMed - in process]
Source: J Pharm Pharm Sci - Category: Drugs & Pharmacology Authors: Tags: J Pharm Pharm Sci Source Type: research
In this study, we determine whether intranasally (IN) administered DFO is beneficial in the intracerebroventricular streptozotocin (ICV STZ) rat model of sporadic Alzheimer's disease, which is different from previous models in that it exhibits dysregulation of insulin metabolism as well as oxidative stress and inflammation.
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Source Type: research
Authors: He YE, Qiu HX, Jiang JB, Wu RZ, Xiang RL, Zhang YH Abstract The aim of the present study was to identify key genes that may be involved in the pathogenesis of Tetralogy of Fallot (TOF) using bioinformatics methods. The GSE26125 microarray dataset, which includes cardiovascular tissue samples derived from 16 children with TOF and five healthy age‑matched control infants, was downloaded from the Gene Expression Omnibus database. Differential expression analysis was performed between TOF and control samples to identify differentially expressed genes (DEGs) using Student's t‑test, and the R/limma package, ...
Source: Molecular Medicine Reports - Category: Molecular Biology Tags: Mol Med Rep Source Type: research
Abstract Overload or dysfunction of ubiquitin-proteasome system (UPS) is implicated in mechanisms of neurodegeneration associated with neurodegenerative diseases, e.g. Parkinson and Alzheimer disease, and ischemia-reperfusion injury. The aim of this study was to investigate the possible association between viability of neuroblastoma SH-SY5Y and glioblastoma T98G cells treated with bortezomib, inhibitor of 26S proteasome, and accumulation of ubiquitin-conjugated proteins with respect to direct cytotoxicity of aggregates of ubiquitin-conjugated proteins. Bortezomib-induced death of SH-SY5Y cells was documented after...
Source: Neurochemical Research - Category: Neuroscience Authors: Tags: Neurochem Res Source Type: research
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Source: Biochimica et Biophysica Acta (BBA) General Subjects - Category: Biochemistry Source Type: research
Influence of physical exercise on β-amyloid, α-synuclein and tau accumulation: an in vitro model of oxidative stress in human red blood cells. Arch Ital Biol. 2017 Jul 01;155(1-2):33-42 Authors: Iofrida C, Daniele S, Pietrobono D, Fusi J, Galetta F, Trincavelli ML, Bonuccelli U, Franzoni F, Martini C Abstract A common pathological feature of neurodegenerative disorders (NDs), such as Alzheimer's (AD) and Parkinson's (PD) diseases, is the abnormal accumulation and misfolding of specific proteins, primarily α-synuclein (α-syn), β-amyloid1-42 (Aβ) and tau, in brain and in ...
Source: Archives Italiennes de Biologie - Category: Neuroscience Tags: Arch Ital Biol Source Type: research
(Louisiana State University Health Sciences Center) Understanding how dietary essential fatty acids work may lead to effective treatments for diseases and conditions such as stroke, Alzheimer's disease, age-related macular degeneration, Parkinson's disease and other retinal and neurodegenerative diseases. The key is to be able to intervene during the early stages of the disease.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
Mutations in LRRK2, which encodes leucine-rich repeat kinase 2, are the most common genetic cause of familial and sporadic Parkinson’s disease (PD), a degenerative disease of the central nervous system that causes impaired motor function and, in advanced stages, dementia. Dementia is a common symptom of another neurodegenerative disease, Alzheimer’s disease, and research suggests that there may be pathophysiological and genetic links between the two diseases. Aggregates of β amyloid [a protein produced through cleavage of amyloid precursor protein (APP)] are seen in both diseases and in PD patients carryin...
Source: Signal Transduction Knowledge Environment - Category: Science Authors: Tags: STKE Research Articles Source Type: news
Publication date: Available online 17 July 2017 Source:Life Sciences Author(s): Swati Chandra, Divya Vimal, Divya Sharma, Vipin Rai, Subash Chandra Gupta, D. Kar Chowdhuri MicroRNAs (miRNAs) constitute a class of small (21–24 nucleotides) non-coding RNAs that regulate gene expression at the post-transcriptional level. Caenorhabditis elegans, Drosophila melanogaster, and many other small organisms have been instrumental in deciphering the biological functions of miRNAs. While some miRNAs from small organisms are highly conserved across the taxa, others are organism specific. The miRNAs are known to play a crucial rol...
Source: Life Sciences - Category: Biology Source Type: research
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