Abstract:
:Parkinson's disease (PD) is a major neurodegenerative disorder for which the etiology and pathogenesis remain as elusive as for Alzheimer's disease. PD appears to be caused by genetic and environmental factors, and pedigree and cohort studies have identified numerous susceptibility genes and loci related to PD. Autosomal recessive mutations in the genes Parkin, Pink1, DJ-1, ATP13A2, PLA2G6, and FBXO7 have been linked to PD susceptibility. Such mutations in ATP13A2, also named PARK9, were first identified in 2006 in a Chilean family and are associated with a juvenile-onset, levodopa-responsive type of Parkinsonism called Kufor-Rakeb syndrome (KRS). KRS involves pyramidal degeneration, supranuclear palsy, and cognitive impairment. Here we review current knowledge about the ATP13A2 gene, clinical characteristics of patients with PD-associated ATP13A2 mutations, and models of how the ATP13A2 protein may help prevent neurodegeneration by inhibiting α-synuclein aggregation and supporting normal lysosomal and mitochondrial function. We also discuss another ATP13A2 mutation that is associated with the family of neurodegenerative disorders called neuronal ceroid lipofuscinoses (NCLs), and we propose a single pathway whereby ATP13A2 mutations may contribute to NCLs and Parkinsonism. Finally, we highlight how studies of mutations in this gene may provide new insights into PD pathogenesis and identify potential therapeutic targets.
journal_name
Biomed Res Intjournal_title
BioMed research internationalauthors
Yang X,Xu Ydoi
10.1155/2014/371256subject
Has Abstractpub_date
2014-01-01 00:00:00pages
371256eissn
2314-6133issn
2314-6141journal_volume
2014pub_type
杂志文章,评审abstract::Molecular recognition elements (MREs) can be short sequences of single-stranded DNA, RNA, small peptides, or antibody fragments. They can bind to user-defined targets with high affinity and specificity. There has been an increasing interest in the identification and application of nucleic acid molecular recognition el...
journal_title:BioMed research international
pub_type: 杂志文章,评审
doi:10.1155/2015/419318
更新日期:2015-01-01 00:00:00
abstract:INTRODUCTION:The PiCCO transpulmonary thermodilution technique provides two indices of cardiac systolic function, the cardiac function index (CFI) and the global ejection fraction (GEF). Both appear to be correlated with left ventricular ejection fraction (LVEF) measured by echocardiography in patients with circulatory...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2014/598029
更新日期:2014-01-01 00:00:00
abstract::This study aimed to evaluate the genes that were expressed in the healing bones around SLA-treated titanium orthodontic mini-implants in a beagle at early (1-week) and late (4-week) stages with RNA-sequencing (RNA-Seq). Samples from sites of surgical defects were used as controls. Total RNA was extracted from the tiss...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2015/538080
更新日期:2015-01-01 00:00:00
abstract::[This corrects the article DOI: 10.1155/2017/8193821.]. ...
journal_title:BioMed research international
pub_type: 已发布勘误
doi:10.1155/2017/6418529
更新日期:2017-01-01 00:00:00
abstract::We have evaluated the cloning and functional expression of previously described broad antimicrobial spectrum bacteriocins SRCAM 602, OR-7, E-760, and L-1077, by recombinant Pichia pastoris. Synthetic genes, matching the codon usage of P. pastoris, were designed from the known mature amino acid sequence of these bacter...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2015/767183
更新日期:2015-01-01 00:00:00
abstract:Purpose:To explore the effects of depression on cardiac autonomic nerve function and related metabolic pathways, the heart rate variability (HRV) and urinary differential metabolites were detected on the college students with depression. Methods:12 female freshmen with depression were filtered by the Beck Depression I...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2020/5246350
更新日期:2020-02-27 00:00:00
abstract::Osteoarthritis (OA) is one of the most common debilitating disorders among the elderly population. At present, there is no definite cure for the underlying causes of OA. However, adipose tissue-derived stem cells (ADSCs) in the form of stromal vascular fraction (SVF) may offer an alternative at this time. ADSCs are on...
journal_title:BioMed research international
pub_type: 杂志文章,评审
doi:10.1155/2016/4702674
更新日期:2016-01-01 00:00:00
abstract::Nowadays, several screening strategies are available to prevent cervical cancer, but inadequate resources, sociocultural barriers, and sampling issues impede their success in low-income countries. To overcome these issues, this study aimed to evaluate the performance of human papillomavirus (HPV) testing from dried ur...
journal_title:BioMed research international
pub_type: 临床试验,杂志文章
doi:10.1155/2015/283036
更新日期:2015-01-01 00:00:00
abstract::Models using large animals that are suitable for studying artificial liver support system (ALSS) are urgently needed. Presently available acute liver failure (ALF) models mainly involve pigs or dogs. Establishment of current surgical ALF models (hepatectomy/devascularization) requires either very good surgical skills ...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2016/3518989
更新日期:2016-01-01 00:00:00
abstract::Prior to the "onset of hearing," developing cochlear inner hair cells (IHCs) and primary auditory neurons undergo experience-independent activity, which is thought to be important in retaining and refining neural connections in the absence of sound. One of the major hypotheses regarding the origin of such activity inv...
journal_title:BioMed research international
pub_type: 杂志文章,评审
doi:10.1155/2014/367939
更新日期:2014-01-01 00:00:00
abstract:INTRODUCTION:Spectroscopic analysis of urine samples from laboratory animals can be used to predict the efficacy and side effects of drugs. This employs methods combining (1)H NMR spectroscopy with quantification of biomarkers or with multivariate data analysis. The most critical steps in data evaluation are analytical...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2013/878374
更新日期:2013-01-01 00:00:00
abstract::Amylase is an industrially important enzyme and applied in many industrial processes such as saccharification of starchy materials, food, pharmaceutical, detergent, and textile industries. This research work deals with the optimization of fermentation conditions for α-amylase production from thermophilic bacterial str...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2017/9173040
更新日期:2017-01-01 00:00:00
abstract::The craniofacial complex is the billboard of sorts containing information about sex, health, ancestry, kinship, genes, and environment. A thorough knowledge of the genes underlying craniofacial morphology is fundamental to understanding craniofacial biology and evolution. These genes can also provide an important foun...
journal_title:BioMed research international
pub_type: 杂志文章,评审
doi:10.1155/2016/3054578
更新日期:2016-01-01 00:00:00
abstract::The aim of this study was to detect oral bacteremia and offer the antibiotic resistance patterns. Bacterial resistance pattern was evaluated in 50 patients. A spectrophotometer device equipped with UV and electrophoresis of the extracted samples on agarose gel for antibiogram test were used. PCR test 15 minutes after ...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2020/9502959
更新日期:2020-10-01 00:00:00
abstract::Spinal cord injured (SCI) individuals show an altered hemodynamic response to metaboreflex activation due to a reduced capacity to vasoconstrict the venous and arterial vessels below the level of the lesion. Exercise training was found to enhance circulating catecholamines and to improve cardiac preload and venous ton...
journal_title:BioMed research international
pub_type: 临床试验,杂志文章
doi:10.1155/2014/893468
更新日期:2014-01-01 00:00:00
abstract:Background:Health-related physical fitness is vital for children with intellectual and developmental disabilities (IDD) to gain healthier lives. The adapted rhythmic gymnastics (ARG) program was designed for children with IDD and is aimed at testing the effects of the exercise program on children's physical fitness. M...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2020/2345607
更新日期:2020-08-10 00:00:00
abstract:Background:The aim of this study was to examine whether oral propranolol has any effect on neurodevelopment outcomes in young children with problematic infantile hemangiomas (IHs). Methods:Thirty-six children with a diagnosis of problematic IH who were treated with oral propranolol were compared with 34 healthy childr...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2018/5821369
更新日期:2018-02-25 00:00:00
abstract::We have reported that folic acid, vitamin B12, and omega-3 fatty acids are interlinked in the one carbon cycle and have implications for fetal programming. Our earlier studies demonstrate that an imbalance in maternal micronutrients influence long chain polyunsaturated fatty acid metabolism and global methylation in r...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2014/613078
更新日期:2014-01-01 00:00:00
abstract:Objective:The aim of this study is to explore the potential pathogenesis of juvenile dermatomyositis by bioinformatics analysis of gene chips, which would screen the hub genes, identify potential biomarkers, and reveal the development mechanism of juvenile dermatomyositis. Material and Methods:We retrieved juvenile de...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2019/7814287
更新日期:2019-12-07 00:00:00
abstract:OBJECTIVE:To analyze the clinical relevance of the levels of TNFα blockers and anti-drug antibodies (anti-drug Ab) in patients with rheumatoid arthritis (RA) and spondyloarthritis (SpA) treated with adalimumab (ADA), etanercept (ETA), or infliximab (INF) for a prolonged period of time. METHODS:Clinical characteristics...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2015/604872
更新日期:2015-01-01 00:00:00
abstract::Infective endocarditis (IE) is a life-threatening disease that is associated with high morbidity and mortality. Its long-term prognosis strongly depends on a timely and optimized antibiotic treatment. Therefore, identification of the causative pathogen is crucial and currently based on blood cultures followed by chara...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2016/7923874
更新日期:2016-01-01 00:00:00
abstract::One of the most important tasks of a living organism is to maintain its genetic integrity with respect to stress. Endoplasmic reticulum (ER) has a crucial role in sensing cellular homeostasis by controlling metabolism, proteostasis, and several signaling processes. ER stressors can induce autophagy-dependent survival;...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2015/319589
更新日期:2015-01-01 00:00:00
abstract::New and innovative treatment strategies for cancer patients in the fields of immunotherapy and radiotherapy are rapidly developing in parallel. Among the most promising preclinical treatment approaches is combining immunotherapy with radiotherapy where early data suggest synergistic effects in several tumor model syst...
journal_title:BioMed research international
pub_type: 杂志文章,评审
doi:10.1155/2013/658126
更新日期:2013-01-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:Over the past decade, image quality in low-dose computed tomography has been greatly improved by various compressive sensing- (CS-) based reconstruction methods. However, these methods have some disadvantages including high computational cost and slow convergence rate. Many different speed-up t...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2017/6753831
更新日期:2017-01-01 00:00:00
abstract::The zebrafish constitutes a powerful model organism with unique advantages for investigating the vertebrate circadian timing system and its regulation by light. In particular, the remarkably early and rapid development of the zebrafish circadian system has facilitated exploring the factors that control the onset of ci...
journal_title:BioMed research international
pub_type: 杂志文章,评审
doi:10.1155/2014/235781
更新日期:2014-01-01 00:00:00
abstract::In patients with sepsis and septic shock, the hemodynamic management in both early and later phases of these "organ dysfunction syndromes" is a key therapeutic component. It needs, however, to be differentiated between "early goal-directed therapy" (EGDT) as proposed for the first 6 hours of emergency department treat...
journal_title:BioMed research international
pub_type: 杂志文章,评审
doi:10.1155/2016/8268569
更新日期:2016-01-01 00:00:00
abstract:Objective:To investigate the clinicopathological characteristics and risk factors in patients with lung cancer and COPD. Materials and Methods:We retrospectively reviewed the clinical data of 282 patients with lung cancer, including 174 and 108 patients with and without COPD, respectively. Information on age, sex, smo...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2018/8398156
更新日期:2018-02-14 00:00:00
abstract::Objective. To evaluate the association of -174G/C IL-6 polymorphism with failure in therapeutic response to methotrexate (MTX) or leflunomide (LEF). This prospective, observational cohort included 96 Mexican-Mestizo patients with moderate or severe rheumatoid arthritis (RA), initiating MTX or LEF, genotyped for IL-6 -...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2016/4193538
更新日期:2016-01-01 00:00:00
abstract::The present study showed that oral mushroom beta-glucan treatment significantly increased IFN-γ mRNA expression but significantly reduced COX-2 mRNA expression within the lung. For LLC tumor model, oral Ganoderma lucidum or Antrodia camphorata polysaccharides treatments significantly reduced TGF-β production in serum....
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2015/604385
更新日期:2015-01-01 00:00:00
abstract:Background:Anion gap (AG) has been proved to be associated with prognosis of many cardiovascular diseases. This study is aimed at exploring the association of AG with inhospital all-cause mortality and adverse clinical outcomes in coronary care unit (CCU) patients. Method:All data of this study was extracted from Medi...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2020/4598462
更新日期:2020-08-27 00:00:00