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https://www.readbyqxmd.com/read/29772390/pathobiology-of-christianson-syndrome-linking-disrupted-endosomal-lysosomal-function-with-intellectual-disability-and-sensory-impairments
#1
Mallory Kerner-Rossi, Maria Gulinello, Steven Walkley, Kostantin Dobrenis
Christianson syndrome (CS) is a recently described rare neurogenetic disorder presenting early in life with a broad range of neurological symptoms, including severe intellectual disability with nonverbal status, hyperactivity, epilepsy, and progressive ataxia due to cerebellar atrophy. CS is due to loss-of-function mutations in SLC9A6, encoding NHE6, a sodium-hydrogen exchanger involved in the regulation of early endosomal pH. Here we review what is currently known about the neuropathogenesis of CS, based on insights from experimental models, which to date have focused on mechanisms that affect the CNS, specifically the brain...
May 14, 2018: Neurobiology of Learning and Memory
https://www.readbyqxmd.com/read/29768373/acute-myelitis-of-children-with-positive-anti-gm1-antibody-case-series-and-literature-review
#2
Zhiling Wang, Di Qie, Hui Zhou, Xiao Tang Cai
RATIONALE: To explore the clinical features, treatment, and prognosis of acute myelitis (AM) of children with positive blood anti- ganglioside (GM1) antibodies. PATIENT CONCERNS: Two cases of AM of children with positive anti-GM1 antibody were retrospectively collected and followed up for 6 months. Two cases had positive helicobacter pylori IgG antibody, and Case 2 also had positive mycoplasma IgM antibody. DIAGNOSES: Two cases had typical symptoms of myelitis, abnormal spinal magnetic resonance imaging (MRI), and positive serum anti-GM1 IgM...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29760097/the-glycolipid-gm1-reshapes-asymmetric-biomembranes-and-giant-vesicles-by-curvature-generation
#3
Raktim Dasgupta, Markus S Miettinen, Nico Fricke, Reinhard Lipowsky, Rumiana Dimova
The ganglioside GM1 is present in neuronal membranes at elevated concentrations with an asymmetric spatial distribution. It is known to generate curvature and can be expected to strongly influence the neuron morphology. To elucidate these effects, we prepared giant vesicles with GM1 predominantly present in one leaflet of the membrane, mimicking the asymmetric GM1 distribution in neuronal membranes. Based on pulling inward and outward tubes, we developed a technique that allowed the direct measurement of the membrane spontaneous curvature...
May 14, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29752599/assignment-by-negative-ion-electrospray-tandem-mass-spectrometry-of-the-tetrasaccharide-backbones-of-monosialylated-glycans-released-from-bovine-brain-gangliosides
#4
Wengang Chai, Yibing Zhang, Laura Mauri, Maria G Ciampa, Barbara Mulloy, Sandro Sonnino, Ten Feizi
Gangliosides, as plasma membrane-associated sialylated glycolipids, are antigenic structures and they serve as ligands for adhesion proteins of pathogens, for toxins of bacteria, and for endogenous proteins of the host. The detectability by carbohydrate-binding proteins of glycan antigens and ligands on glycolipids can be influenced by the differing lipid moieties. To investigate glycan sequences of gangliosides as recognition structures, we have underway a program of work to develop a "gangliome" microarray consisting of isolated natural gangliosides and neoglycolipids (NGLs) derived from glycans released from them, and each linked to the same lipid molecule for arraying and comparative microarray binding analyses...
May 11, 2018: Journal of the American Society for Mass Spectrometry
https://www.readbyqxmd.com/read/29748690/untargeted-lipidomic-analysis-of-primary-human-epidermal-melanocytes-acutely-and-chronically-exposed-to-uv-radiation
#5
Núria Dalmau, Nathalie Andrieu-Abadie, Romà Tauler, Carmen Bedia
Ultraviolet (UV) radiation present in sunlight has been related to harmful effects on skin such as premature aging and skin cancer. In order to study the effects of UV radiation on skin, many investigations have been carried out at transcriptomic and proteomic levels. However, studies on the effects of UV radiation on lipid composition are scarce. In this work, primary cultures of melanocytes were exposed to UV radiation in a similar UVA/UVB ratio to that found in solar light. The UV exposure was carried out twice a week and different endpoints were investigated at 0...
May 11, 2018: Molecular omics
https://www.readbyqxmd.com/read/29747826/preface-and-ganglioside-nomenclature
#6
EDITORIAL
Ronald L Schnaar, Pablo H H Lopez
No abstract text is available yet for this article.
2018: Progress in Molecular Biology and Translational Science
https://www.readbyqxmd.com/read/29747825/gangliosides-in-membrane-organization
#7
Sandro Sonnino, Elena Chiricozzi, Sara Grassi, Laura Mauri, Simona Prioni, Alessandro Prinetti
Since the structure of GM1 was elucidated 55years ago, researchers have been attracted by the sialylated glycans of gangliosides. Gangliosides head groups, protruding toward the extracellular space, significantly contribute to the cell glycocalyx; and in certain cells, such as neurons, are major determinants of the features of the cell surface. Expression of glycosyltransferases involved in the de novo biosynthesis of gangliosides is tightly regulated along cell differentiation and activation, and is regarded as the main metabolic mechanism responsible for the acquisition of cell-specific ganglioside patterns...
2018: Progress in Molecular Biology and Translational Science
https://www.readbyqxmd.com/read/29747824/congenital-disorders-of-ganglioside-biosynthesis
#8
T August Li, Ronald L Schnaar
Gangliosides are expressed on all vertebrate cells and tissues, but are particularly abundant in the mammalian brain, where they constitute major cell-surface determinants on all nerve cells. The same four ganglioside structures, GM1, GD1a, GD1b, and GT1b, constitute the great majority of brain gangliosides in all mammals. Biosynthesis of these major brain gangliosides starts with addition of glucose to the ceramide lipid carrier followed by stepwise addition of up to six additional monosaccharides. This primarily involves the sequential action of seven glycosyltransferases, many of which appear to act specifically on glycolipid (rather than glycoprotein) acceptors...
2018: Progress in Molecular Biology and Translational Science
https://www.readbyqxmd.com/read/29747823/gangliosides-%C3%AE-synuclein-and-parkinson-s-disease
#9
Robert W Ledeen, Gusheng Wu
This review addresses the role of α-synuclein (αSyn) in the etiopathology of Parkinson's disease (PD), with emphasis on its interaction with GM1 ganglioside. We begin with a brief review of some of the milestone discoveries that helped to elucidate PD neuropathology, including the fibrous inclusions of Lewy that characterize the degenerating dopaminergic neurons of the substantia nigra and the presence of αSyn as a major constituent of these Lewy bodies and neurites. This enabled Braak et al. to define the progressive nature of PD in developing their staging hypothesis which described the topographically predictable sequence of neuropathological changes giving rise to prodromal nonmotor symptoms that precede the classical motor dysfunctions...
2018: Progress in Molecular Biology and Translational Science
https://www.readbyqxmd.com/read/29747822/ganglioside-mediated-assembly-of-amyloid-%C3%AE-protein-roles-in-alzheimer-s-disease
#10
Katsumi Matsuzaki, Koichi Kato, Katsuhiko Yanagisawa
Assembly and deposition of amyloid β-protein (Aβ) is an early and invariable pathological event of Alzheimer's disease (AD), a chronic neurodegenerative disease affecting the neurons in the brain of aging population. Thus, clarification of the molecular mechanism underlying Aβ assembly is crucial not only for understanding the pathogenesis of AD, but also for developing disease-modifying remedies. In 1995, ganglioside-bound Aβ (GAβ), with unique molecular characteristics, including its altered immunoreactivity and its conspicuous ability to accelerate Aβ assembly, was discovered in an autopsied brain showing early pathological changes of AD...
2018: Progress in Molecular Biology and Translational Science
https://www.readbyqxmd.com/read/29747821/gangliosides-in-axon-stability-and-regeneration
#11
Pablo H H Lopez, Bárbara Beatriz Báez
Gangliosides are a family of sialic acid-containing glycosphingolipids highly expressed in the nervous system of vertebrates. Over the last 25years, research has unmasked several of their neurobiological functions but the role of gangliosides in the nervous system remains not fully elucidated. Genetic disruption of genes for key enzymes involved in ganglioside biosynthesis led to the discovery of their diverse functions and highlighted the exquisite structural specificity required in this processes. In the nervous system, gangliosides regulate axonal caliber and organize ion channels at the nodes of Ranvier, a critical step to ensure fast conduction velocity of myelinated fibers...
2018: Progress in Molecular Biology and Translational Science
https://www.readbyqxmd.com/read/29747820/gangliosides-and-autoimmune-peripheral-nerve-diseases
#12
John A Goodfellow, Hugh J Willison
A wide range of neuroimmunological diseases, referred to as autoimmune neuropathies, affect the peripheral nervous systems (PNS). The PNS is structurally diverse with complex anatomical compartments enriched in many different myelin and neuronal glycolipids, notably gangliosides. Autoimmune neuropathies are a proportion of autoimmune neuropathies mediated by autoimmune attack due to antibodies reactive with these compartmentally localized gangliosides. Antiganglioside antibodies are principally associated with the acute paralytic disease, Guillain-Barré syndrome, and are also found in several chronic autoimmune neuropathy syndromes...
2018: Progress in Molecular Biology and Translational Science
https://www.readbyqxmd.com/read/29747819/protein-toxins-that-utilize-gangliosides-as-host-receptors
#13
Madison Zuverink, Joseph T Barbieri
Subsets of protein toxins utilize gangliosides as host receptors. Gangliosides are preferred receptors due to their extracellular localization on the eukaryotic cell and due to their essential nature in host physiology. Glycosphingolipids, including gangliosides, are mediators of signal transduction within and between eukaryotic cells. Protein toxins possess AB structure-function organization, where the A domain encodes a catalytic function for the posttranslational modification of a host macromolecule, including proteins and nucleic acids, and a B domain, which encodes host receptor recognition, including proteins and glycosphingolipids, alone or in combination...
2018: Progress in Molecular Biology and Translational Science
https://www.readbyqxmd.com/read/29747818/glycan-chains-of-gangliosides-functional-ligands-for-tissue-lectins-siglecs-galectins
#14
Robert W Ledeen, Jürgen Kopitz, José Abad-Rodríguez, Hans-Joachim Gabius
Molecular signals on the cell surface are responsible for adhesion and communication. Of relevance in this respect, their chemical properties endow carbohydrates with the capacity to store a maximum of information in a minimum of space. One way to present glycans on the cell surface is their covalent conjugation to a ceramide anchor. Among the resulting glycosphingolipids, gangliosides are special due to the presence of at least one sialic acid in the glycan chains. Their spatial accessibility and the dynamic regulation of their profile are factors that argue in favor of a role of glycans of gangliosides as ligands (counterreceptors) for carbohydrate-binding proteins (lectins)...
2018: Progress in Molecular Biology and Translational Science
https://www.readbyqxmd.com/read/29747817/gangliosides-in-inflammation-and-neurodegeneration
#15
Koichi Furukawa, Yuhsuke Ohmi, Orie Tajima, Yuki Ohkawa, Yuji Kondo, Ji Shuting, Noboru Hashimoto, Keiko Furukawa
Gangliosides play roles in the regulation of cell signaling that are mediated via membrane microdomains, lipid rafts. In this review, functions of gangliosides in the maintenance of nervous systems with a focus on regulation of inflammation and neurodegeneration are addressed. During analyses of various ganglioside-lacking mutant mice, we demonstrated that nervous tissues exhibited inflammatory reactions and subsequent neurodegeneration. Among inflammation-related genes, factors of the complement system showed up-regulation with aging...
2018: Progress in Molecular Biology and Translational Science
https://www.readbyqxmd.com/read/29747816/gangliosides-in-nerve-cell-specification
#16
Yutaka Itokazu, Jing Wang, Robert K Yu
The central nervous system is generated from progenitor cells that are recognized as neural stem cells (NSCs). NSCs are defined as undifferentiated neural cells that are characterized by the capacity for self-renewal and multipotency. Throughout neural development, NSCs undergo proliferation, migration, and cellular differentiation, and dynamic changes are observed in the composition of carbohydrate-rich molecules, including gangliosides. Gangliosides are sialic acid-containing glycosphingolipids with essential and multifaceted functions in brain development and NSC maintenance, which reflects the complexity of brain development...
2018: Progress in Molecular Biology and Translational Science
https://www.readbyqxmd.com/read/29747815/gangliosides-in-diabetic-wound-healing
#17
Duncan Hieu M Dam, Amy S Paller
An organized series of complicated biological and molecular phenomena is required for normal skin wound healing. These processes depend on normal cellular responses to cytokines, growth factors, and other mediators, such as clotting factors, prostaglandins, free radicals, and nitric oxide. In diabetic ulcers, impaired responses to these molecules lead to abnormalities in vascularization, innervation, matrix reconstruction, and reepithelialization of wounds. keratinocyte migration and proliferation on an extracellular matrix is critical in reepithelialization, but the response to growth factors is blunted in diabetes, including the insulin/IGF-1signaling axis...
2018: Progress in Molecular Biology and Translational Science
https://www.readbyqxmd.com/read/29747814/gangliosides-in-cancer-cell-signaling
#18
Sophie Groux-Degroote, Macarena Rodríguez-Walker, Justine H Dewald, Jose L Daniotti, Philippe Delannoy
At the outer leaflet of the plasma membrane, gangliosides are found with other glycosphingolipids, phospholipids, and cholesterol in glycolipid-enriched microdomains, in which they interact with signaling molecules including receptor tyrosine kinases and signal transducers. The role of gangliosides in the regulation of signal transduction has been reported for many cases and in different cell types. The biosynthesis of gangliosides involves specific enzymes, mainly glycosyltransferases that control together with glycohydrolases, the steady state of gangliosides at the cell surface...
2018: Progress in Molecular Biology and Translational Science
https://www.readbyqxmd.com/read/29747813/biology-of-gm3-ganglioside
#19
Jin-Ichi Inokuchi, Kei-Ichiro Inamori, Kazuya Kabayama, Masakazu Nagafuku, Satoshi Uemura, Shinji Go, Akemi Suzuki, Isao Ohno, Hirotaka Kanoh, Fumi Shishido
Since the successful molecular cloning in 1998 of GM3 synthase (GM3S, ST3GAL5), the enzyme responsible for initiating biosynthesis of all complex gangliosides, the efforts of our research group have been focused on clarifying the physiological and pathological implications of gangliosides, particularly GM3. We have identified isoforms of GM3S proteins having distinctive lengths of N-terminal cytoplasmic tails, and found that these cytoplasmic tails define subcellular localization, stability, and in vivo activity of GM3S isoforms...
2018: Progress in Molecular Biology and Translational Science
https://www.readbyqxmd.com/read/29747812/biological-and-pathological-roles-of-ganglioside-sialidases
#20
Taeko Miyagi, Kohta Takahashi, Koji Yamamoto, Kazuhiro Shiozaki, Kazunori Yamaguchi
Sialidases are glycosidases responsible for the removal of α-glycosidically linked sialic acid residues from carbohydrate portions of glycoproteins and glycolipids, this process being the initial step in the degradation of such glycoconjugates. Sialic acids are considered to play important roles in various biological processes largely in two ways, one related to their hydrophilic and acidic properties exerting physicochemical effects on the glycoconjugates to which they are attached, and the other as recognition sites or in an opposing fashion as masking sites...
2018: Progress in Molecular Biology and Translational Science
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