Abstract：
:Neurodegeneration with brain iron accumulation (NBIA) is a group of seriously devastating and life-threatening rare monogenic diseases characterized by focal iron accumulation in the brain. The main symptoms of NBIA comprise progressive movement disorder, often including painful dystonia, parkinsonism, mental disability, and early death. Currently, a single established therapy is not available to reverse the progression of these debilitating disorders. The complexity of NBIA emerged from the identification of various causative genes, and up to 15 genes have been identified to date. Although the NBIA genes are involved in different cellular biochemical pathways, they show the common characteristic of generating severe iron accumulation in the basal ganglia of the patients' brains. Thus, the molecular events that lead to brain iron overload and their important roles in the pathophysiology of the diseases are not easy to identify and are poorly understood. This review summarizes the current knowledge on NBIA disorders, with a particular focus on the data describing the role of iron in the pathogenic mechanisms.
journal_name
Adv Exp Med Bioljournal_title
Advances in experimental medicine and biologyauthors
Levi S,Cozzi A,Santambrogio Pdoi
10.1007/978-981-13-9589-5_9subject
Has Abstractpub_date
2019-01-01 00:00:00pages
153-177eissn
0065-2598issn
2214-8019journal_volume
1173pub_type
杂志文章,评审abstract：:Inhibition of human phospholipases A2 by cis-unsaturated fatty acids and their oxidative metabolites and/or polymers was studied using partially purified human phospholipases A2 and [1-14C]oleate labelled, autoclaved E. coli as substrate. As previously reported for other phospholipases A2, oleic and arachidonic acids ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4613-0651-1_15
更新日期：1990-01-01 00:00:00
abstract：:Expression of voltage-gated sodium channels (Nav) takes place in the airways and the role of Nav1.7 and Nav1.8 in the control of airway's defense reflexes has been confirmed. The activation of Nav channels is crucial for cough initiation and airway smooth muscle reactivity, but it is unknown whether these channels reg...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/5584_2016_244
更新日期：2016-01-01 00:00:00
abstract：:Immune cell activation is a feature of infection with the human immunodeficiency virus (HIV). Here we report our studies on a cohort of over 400 patients with HIV infection studied cross-sectionally and longitudinally to examine the relationship between markers of immune cell activation and disease progression. To exa...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4615-1995-9_2
更新日期：1995-01-01 00:00:00
abstract：:[1-14C]-Eicosapentaenoic acid (EPA) was incubated with porcine leukocytes. Three polar metabolites were isolated after RP-HPLC separation in addition to pentaene leukotrienes and mono-hydroxy fatty acids. These compounds display U.V. absorbance with U.V. lambda max at 302 nm with shoulders at 289 and 317 nm which were...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4757-0937-7_5
更新日期：1988-01-01 00:00:00
abstract：:Immunohistochemical localizations of calcineurin subunits A (60 KDa) and B (20 KDa) were examined in a rat brain using subunit specific monoclonal antibodies. The immunoreactivity of the subunit A was abundant in the hippocampus, in the striatum, and in the thalamus, but weak in the neocortex. On the contrary, the imm...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4684-5679-0_40
更新日期：1989-01-01 00:00:00
abstract：:The in vitro response of early haematopoietic progenitors or stem cells (CD34+)--common for myeloid (granulocyte, eosinophil, megakaryocyte) and marrow stromal cell lineages, to neopterin, exogenously added to the liquid mouse bone marrow cultures, at doses 12.5-25 microg/ml culture medium, has been studied. The resul...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-0-387-34133-0_8
更新日期：2006-01-01 00:00:00
abstract：:Multichain immune recognitionreceptors (MIRRs) represent a family of surfacereceptors expressed on different cells of the hematopoietic system and function to transduce signals leading to a variety of biologic responses. The most intriguing and distinct structural feature ofMIRR family members is that extracellular re...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-0-387-09789-3_12
更新日期：2008-01-01 00:00:00
abstract：:Frailty and cardiovascular disease (CVD) are both highly prevalent in older adults. Cardiovascular disease has been identified as the most frequent cause of death, while frailty has been identified as one of geriatric giants characterized by decreased physiological reserves and increased vulnerability. However, the ex...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-030-33330-0_10
更新日期：2020-01-01 00:00:00
abstract：:PNA-LNA PCR clamp real-time PCR method represents allele-specific approach to mutation analysis of EGFR gene in NSCLC. Due to its unique design, it is characterized by exceptionally high specificity and sensitivity but also allows detection of rare or not specifically-targeted EGFR mutations within examined exons, oth...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-94-007-4549-0_39
更新日期：2013-01-01 00:00:00
abstract：:Redox signaling plays a critical role in the pathophysiology of cardiovascular diseases. The pentose phosphate pathway is a major source of NADPH redox in the cell. The activities of glucose-6-phosphate dehydrogenase (the rate-limiting enzyme in the pentose shunt) and glucose flux through the shunt pathway is increase...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-3-319-63245-2_4
更新日期：2017-01-01 00:00:00
abstract：:The world of noncoding RNAs (ncRNAs) has gained widespread attention in recent years due to their novel and crucial potency of biological regulation. Noncoding RNAs play essential regulatory roles in a broad range of developmental processes and diseases, notably human cancers. Regulatory ncRNAs represent multiple leve...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-981-10-1498-7_1
更新日期：2016-01-01 00:00:00
abstract：:Hypoxia is a hallmark of tumors leading to (mal-)adaptive processes, development of aggressive phenotypes and treatment resistance. Based on underlying mechanisms and their duration, two main types of hypoxia have been identified, coexisting with complex spatial and temporal heterogeneities. Chronic hypoxia is mainly ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4939-0620-8_3
更新日期：2014-01-01 00:00:00
abstract：:Peroxisome proliferator-activated receptors (PPARs) are multi-domains proteins, belonging to the superfamily of nuclear receptors, which mainly act as ligand-activated transcription factors. A variety of lipophilic molecules, including long-chain polyunsaturated fatty acids and eicosanoids, are capable of binding to P...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-030-11488-6_3
更新日期：2019-01-01 00:00:00
abstract：:The clinical success of gene replacement therapies in recent years has served as a proof of concept for the treatment of inherited retinal degenerations using adeno-associated virus (AAV) as viral vector. However, inherited retinal degenerative diseases showcase a broad genetic and mechanistic heterogeneity, challengi...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-75402-4_10
更新日期：2018-01-01 00:00:00
abstract：:Cytochrome P450 enzymes (P450s or CYPs) catalyze an enormous variety of oxidative reactions in organisms from all major domains of life. Their monooxygenase activity relies on the reductive scission of molecular oxygen (O2) bound to P450 heme iron, and thus on the delivery of two electrons to the heme iron at discrete...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-16009-2_11
更新日期：2015-01-01 00:00:00
abstract：:The clinical importance of high density lipoproteins has grown in recent years with demonstrations of their impact on diverse pathological mechanisms implicated not only in vascular disease, but also in other physiological systems. This is related to the multiple functions associated with high-density lipoproteins (HD...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-07320-0_3
更新日期：2014-01-01 00:00:00
abstract：:The effect of compression on the elementary steps of the cross-bridge cycle was investigated with the sinusoidal analysis technique and ATP hydrolysis rate measurement. The lattice spacing of rabbit psoas muscle fibers was osmotically compressed with a macromolecule, dextran T-500 (0-16%). The effects of MgATP, MgADP,...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4615-2872-2_52
更新日期：1993-01-01 00:00:00
abstract：:In a primary and secondary MLC the in vitro immunogenicity of allogeneic PHA induced blast cells (which lack i region coded determinants) was compared to that of LPS imduced blast cells. Unlike LPS induced blast lymphocytes (stimulator cells) which induced high cytotoxic activity, PHA induced blast cells were found to...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4613-4355-4_49
更新日期：1976-01-01 00:00:00
abstract：:Fibers are broadly classified as soluble and insoluble based on their physical or analytical properties. Two human studies have been carried out in this laboratory utilizing soluble gums. The first compared a low fiber diet to the diet with an average of 19.5 g of added fiber per day from cellulose, an insoluble fiber...
journal_title：Advances in experimental medicine and biology
pub_type： 临床试验,杂志文章
doi：10.1007/978-1-4684-5784-1_2
更新日期：1990-01-01 00:00:00
abstract：:Calcium (Ca2+) accumulation inside mitochondria represents a pleiotropic signal controlling a wide range of cellular functions, including key metabolic pathways and life/death decisions. This phenomenon has been first described in the 1960s, but the identity of the molecules controlling this process remained a mystery...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-55330-6_2
更新日期：2017-01-01 00:00:00
abstract：:The extracellular calcium ([Formula: see text])-sensing receptor (CaSR) was the first GPCR identified whose principal physiological ligand is an ion, namely extracellular Ca(2+). It maintains the near constancy of [Formula: see text] that complex organisms require to ensure normal cellular function. A wealth of inform...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-94-007-2888-2_5
更新日期：2012-01-01 00:00:00
abstract：:The glucose metabolism in human polymorphonuclear (PMN) leukocytes was stimulated by latex particles, zymosan particles, gamma-G globulin and formylmet-leu-phe (FMLP) peptide. Maximum stimulation occurred when zymosan particles in amounts above 0.25 mg/ml per 4 X 10(6) leukocytes were used. Latex particles, gamma-G gl...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4684-8088-7_37
更新日期：1982-01-01 00:00:00
abstract：:The activation of 17beta-estradiol (E2) to 2-hydroxyestradiol (2-HO-E2), the more genotoxic 4-hydroxyestradiol (4-HO-E2), and the oxidation to the respective quinones constitutes a risk factor in hormonal carcinogenesis. 2-HO-E2 is formed by cytochrome P450 CYP1A1, and 4-HO-E2 is formed by CYP1B1. Both are detoxified ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-0-387-69080-3_65
更新日期：2008-01-01 00:00:00
abstract：:Although many studies have described the role of periostin in various diseases, the functions of periostin derived from alternative splicing and proteinase cleavage at its C-terminus remain unknown. Further experiments investigating the periostin structures that are relevant to diseases are essential for an in-depth u...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-981-13-6657-4_2
更新日期：2019-01-01 00:00:00
abstract：:Epigenetic memories are acquired information included in the chromatin or DNA such as methylation and histone modifications. Recent studies suggest that epigenetic memories determine the types of differentiated cells in each tissue. Moreover, the development of metabolic diseases induced by environmental factors durin...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-981-10-5526-3_2
更新日期：2018-01-01 00:00:00
abstract：:In hypoxic rabbits, different levels of Pco2 before and after carotid chemodenervation were applied in order to get information about the acid-base status and the position of the O2-Hb dissociation curve (ODC). A CO2-induced change in pH caused a smaller change in the half-saturation pressure (P50) than was to be expe...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4684-1188-1_10
更新日期：1984-01-01 00:00:00
abstract：:Anumber of observations have lent support to a model in which thermal stress is transduced into a signal at the level of the cellular membranes. Our alternative, but not exclusive, approach is based on the concept that the initial stress-sensing events are associated with the physical state and lipid composition of ce...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-0-387-39975-1_11
更新日期：2007-01-01 00:00:00
abstract：:The loss of biological activity upon heating or agitation of human interferons is markedly altered by changing their aqueous environment. Low pH significantly stabilizes liquid fibroblast interferon at 68 degrees C and 37 degrees C whereas chaotropic salts stabilize at 68 degrees C but not at 37 degrees C; this anomal...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4615-9080-4_11
更新日期：1978-01-01 00:00:00
abstract：:Because several antigenic peptides of human tumors that are recognized by T-lymphocytes have been identified, immune responses against cancer can now be artificially manipulated. Furthermore, since T-lymphocytes have been found to play an important role in the rejection of tumors by the host and also to have antigen-s...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4614-3146-6_6
更新日期：2012-01-01 00:00:00
abstract：:A k-bounded (k ≥ 2) transposition is an operation that switches two elements that have at most k - 2 elements in between. We study the problem of sorting a circular permutation π of length n for k = 2, i.e., adjacent swaps and k = 3, i.e., short swaps. These transpositions mimic microrearrangements of gene order in vi...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4419-5913-3_81
更新日期：2010-01-01 00:00:00
