Abstract：
:The human Usher syndrome (USH) is the most frequent cause of combined hereditary deaf-blindness. USH is genetically and clinically heterogeneous: 15 chromosomal loci assigned to 3 clinical types, USH1-3. All USH1 and 2 proteins are organized into protein networks by the scaffold proteins harmonin (USH1C), whirlin (USH2D) and SANS (USH1G). This has contributed essentially to our current understanding of the USH protein function in the eye and the ear and explains why defects in proteins of different families cause very similar phenotypes. Ongoing in depth analyses of USH protein networks in the eye indicated cytoskeletal functions as well as roles in molecular transport processes and ciliary cargo delivery in photoreceptor cells. The analysis of USH protein networks revealed molecular links of USH to other ciliopathies, including non-syndromic inner ear defects and isolated retinal dystrophies but also to kidney diseases and syndromes like the Bardet-Biedl syndrome. These findings provide emerging evidence that USH is a ciliopathy molecularly related to other ciliopathies, which opens an avenue for common therapy strategies to treat these diseases.
journal_name
Adv Exp Med Bioljournal_title
Advances in experimental medicine and biologyauthors
Sorusch N,Wunderlich K,Bauss K,Nagel-Wolfrum K,Wolfrum Udoi
10.1007/978-1-4614-3209-8_67subject
Has Abstractpub_date
2014-01-01 00:00:00pages
527-33eissn
0065-2598issn
2214-8019journal_volume
801pub_type
杂志文章,评审abstract：:In the post-genomic era, the first step in any study of protein function is a homology search against the complete genome sequence of the organism of interest. By analogy, if we also wish to elucidate the cadre of signaling and regulatory pathways in the cell, an extremely powerful first step is to construct a complet...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4419-8861-4_3
更新日期：2004-01-01 00:00:00
abstract：:The Cannabis sativa plant has been used medicinally and recreationally for thousands of years, but recently only relatively some of its constituents have been identified. There are more than 550 chemical compounds in cannabis, with more than 100 phytocannabinoids being identified, including Δ9-tetrahydrocannabinol (TH...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-3-030-57369-0_1
更新日期：2021-01-01 00:00:00
abstract：:Biological samples of human and animal origin are utilized in research for many purposes and in a variety of scientific fields, including mass spectrometry-based proteomics. Various types of samples, including organs, tissues, cells, body fluids such as blood, plasma, cerebrospinal fluid, saliva and semen, can be coll...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-41448-5_1
更新日期：2016-01-01 00:00:00
abstract：:Network-based approach for psychological phenotypes assumes the dynamical interactions among the psychiatric symptoms, psychological characteristics, and neurocognitive performances arise, as they coexist, propagate, and inhibit other components within the network of mental phenomena. For differential types of dataset...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-981-32-9705-0_2
更新日期：2020-01-01 00:00:00
abstract：:Numerous kindreds with familial frontotemporal lobar degeneration have been linked to mutations in microtubule-associated protein tau (MAPT) or progranulin (GRN) genes. While there are many similarities in the clinical manifestations and associated neuroimaging findings, there are also distinct differences. In this re...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-3-030-51140-1_6
更新日期：2021-01-01 00:00:00
abstract：:Cholesterol-protein interactions play a critical role in lipid metabolism and maintenance of cell integrity. To elucidate the molecular mechanisms underlying these interactions, a growing number of studies have focused on determining the crystal structures of a variety of proteins complexed with cholesterol. These inc...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-030-14265-0_3
更新日期：2019-01-01 00:00:00
abstract：:There are two alternative approaches to ultrasound-assisted drug delivery. First, the drug can be entrapped into or attached onto the ultrasound-responsive particles and administered in the vasculature, to achieve ultrasound-triggered drug release from the particles and localized tissue deposition in response to ultra...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-22536-4_12
更新日期：2016-01-01 00:00:00
abstract：:Mitochondria Na(+)-Ca(2+) exchange (NCX(mit)) was first discovered by Carafoli et al. in 1974. Thereafter, the mechanisms and roles of NCX(mit) have been extensively studied. We review NCX(mit) in cardiomyocytes and lymphocytes by presenting our recent studies on it. Studies of NCX(mit) in rat ventricular cells demons...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4614-4756-6_16
更新日期：2013-01-01 00:00:00
abstract：:Late-stage age-related macular degeneration (AMD) is a common sight-threatening disease of the central retina affecting approximately 1 in 30 Caucasians. Besides age and smoking, common genetic variants from at least 19 gene loci have reproducibly been associated with AMD likely explaining a large proportion of diseas...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4614-3209-8_37
更新日期：2014-01-01 00:00:00
abstract：:Phagocytosis and elimination of shed aged photoreceptor outer segments (POS) by retinal pigment epithelial cells is crucial for photoreceptor function and survival. Genetic studies on a natural animal model of recessive retinal degeneration allowed the identification of MerTK, the gene encoding the surface receptor re...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-17121-0_35
更新日期：2016-01-01 00:00:00
abstract：:P-ANCA that do not react with myeloperoxidase (MPO) have been claimed to serve as a useful diagnostic marker in the differential diagnosis of inflammatory bowel disease (IBD). Therefore, in this study we determined the frequency of MPO-negative-p-ANCA in patients with inflammatory bowel disease and correlated the pres...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4757-9182-2_96
更新日期：1993-01-01 00:00:00
abstract：:A novel cancer treatment method is being designed using a combination of iron oxide (Fe(3)O(4)) nanoparticles (IONPs) and Pluronic F-127 (PF127). IONPs have been used for heating tumors via an alternating electromagnetic (AEM) field. PF127 is a polymer possessing thermo-reversible and concentration-dependent gelation ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4614-4989-8_44
更新日期：2013-01-01 00:00:00
abstract：:Following the Golden Age of antibiotic discovery in the previous century, the rate of antibiotic discovery has plummeted during the past 50 years while the incidence of antimicrobial resistance is ever-increasing. Presently, humankind is forced to address a major public health threat in the form of multiple drug resis...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-981-10-7572-8_5
更新日期：2018-01-01 00:00:00
abstract：:Articular cartilage contains any ectoenzyme activity, NTP-PPH, which is capable of generating PPi from NTP substrates. The PPi generated is from the cleavage of the alpha-beta pyrophosphate bond of NTP and does not result from the effects of NTP catabolites. NTP-PPH activity is expressed on human skin fibroblasts in c...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4684-5104-7_23
更新日期：1986-01-01 00:00:00
abstract：:The effects of taurine and chelerythrine (CHT) on ATP-dependent calcium uptake and the phosphorylation of the approximately 20 kDa phosphoprotein in the retina were compared. In the absence of the CHT, taurine stimulated ATP-dependent calcium uptake and attenuated the phosphorylation of the approximately 20 kDa phosph...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4899-0117-0_53
更新日期：1998-01-01 00:00:00
abstract：:Among the pathological alterations that give tumor cells invasive potential, purinergic signaling is emerging as an important component. Studies performed in in vitro, in vivo and ex vivo glioma models indicate that alterations in the purinergic signaling are involved in the progression of these tumors. Gliomas have l...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-030-30651-9_5
更新日期：2020-01-01 00:00:00
abstract：:Stem cell-based therapy has shown exciting efficacy in pre-clinical studies on different neurodegenerative diseases (NDs). However, no clinically applicable stem-cell-derived neurons are available to the patients with NDs. There exist some obstacles associated with stem cell therapy, which need to be overcome in futur...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-981-15-4370-8_10
更新日期：2020-01-01 00:00:00
abstract：:Since many aspects of schizophrenia are also manifested at the peripheral level in proliferating cell types, this chapter describes the analysis of skin fibroblasts biopsied from living patients. The method focuses on cell culture and sample preparation for characterization of the model. The resulting cell extracts ca...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-3-319-52479-5_29
更新日期：2017-01-01 00:00:00
abstract：:Serine/threonine kinase Akt is a downstream effector of insulin receptor/PI3K pathway that is involved in many processes, including providing neuroprotection to stressed rod photoreceptor cells. Akt signaling is known to be regulated by the serine/threonine phosphatases, PHLPP (PH domain and leucine rich repeat protei...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-3-319-17121-0_55
更新日期：2016-01-01 00:00:00
abstract：:For many years it has been known that developing cells of Dictyostelium discoideum show periodic surges as they aggregate. When it was discovered that the cells were responding chemotactically to cAMP gradients produced within the populations, experiments were carried out that demonstrated similar periodic changes in ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-0-387-09794-7_3
更新日期：2008-01-01 00:00:00
abstract：:Protein-protein associations represent the building blocks of biological systems. The classification of different types of protein association is fundamental to an understanding of the interactions they exhibit. A protein association can be classified as homo- (identical components) or hetero- (non-identical component...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4614-3229-6_3
更新日期：2012-01-01 00:00:00
abstract：:There is a growing awareness of the role of tropomyosin in the regulation of the actin filament. Work in the field is increasingly directed at understanding the mechanisms of function at both a molecular and atomic level and developing therapeutic strategies to treat tropomyosin-based pathology. This chapter highlight...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-0-387-85766-4_22
更新日期：2008-01-01 00:00:00
abstract：:The myosin-containing A-filaments of vertebrate skeletal muscle contain 294 myosin molecules packed to give overall 3-fold rotational symmetry, as illustrated by the fraying of the filament into 3 sub-filaments ( Maw and Rowe, 1980). Further studies on slightly frayed filaments are consistent with a highly linear arra...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4684-4703-3_2
更新日期：1984-01-01 00:00:00
abstract：:The medium from cultured optic tectum of the goldfish intact or at various days after optic nerve crush, or the co-culture of this optic tectum with post-crush goldfish retinal explants plating in the absence of fetal calf serum, but in the presence of glucose, modulate its outgrowth. The a dition of taurine did not f...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-0-387-33504-9_49
更新日期：2006-01-01 00:00:00
abstract：:A monoclonal antibody (mAb B7C9) to human factor XII was produced which blocked the surface mediated coagulant activity of factor XII but not the amidolysis of H-D-ProPheArg-pNA. The mAb epitope was localized to a 20 amino acid sequence of 2.5 kDa in the heavy chain of factor XII. ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4615-9543-4_72
更新日期：1989-01-01 00:00:00
abstract：:The effects of adenosine and its derivatives on binding of alpha 2-adrenergic receptor ligands with homogenates of rat vas deferens were examined. Adenosine and 2-chloradenosine increased the amount of [3H]clonidine binding. ATP had a slight effect, but AMP and adenine had none. The effect of adenosine was inhibited b...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4684-4805-4_11
更新日期：1984-01-01 00:00:00
abstract：:Stable isotope labeling by amino acids in cell culture (SILAC) is a powerful approach for high-throughput quantitative proteomics. SILAC allows highly accurate protein quantitation through metabolic encoding of whole cell proteomes using stable isotope labeled amino acids. Since its introduction in 2002, SILAC has bec...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-06068-2_5
更新日期：2014-01-01 00:00:00
abstract：:Neonatal stroke presents with features of encephalopathy and can result in significant morbidity and mortality. We investigated the cerebral metabolic and haemodynamic changes following neonatal stroke in a term infant at 24 h of life. Changes in oxidation state of cytochrome-c-oxidase (oxCCO) concentration were monit...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4939-3023-4_62
更新日期：2016-01-01 00:00:00
abstract：:Three experiments were conducted for the present study. First, to elucidate the mechanism and functional significance underlying ischemic vasoconstriction, we investigated the relationship between arteriolar constriction and tissue energy metabolism during bilateral common carotid artery occlusion in gerbils. Second, ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4939-0620-8_33
更新日期：2014-01-01 00:00:00
abstract：:The steady active muscle force is reduced, but the force generation induced by a standard temperature jump becomes 2-3 fold faster with increased inorganic phosphate level, [Pi]. The increase in the rate of force generation also exhibits saturation at higher [Pi] levels and the relation is hyperbolic. These observatio...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：
更新日期：2003-01-01 00:00:00
