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https://www.readbyqxmd.com/read/29143882/enzymatic-properties-of-%C3%AE-n-acetylglucosaminidases
#1
REVIEW
Rui Zhang, Junpei Zhou, Zhifeng Song, Zunxi Huang
β-N-Acetylglucosaminidases (GlcNAcases) hydrolyse N-acetylglucosamine-containing oligosaccharides and proteins. These enzymes produce N-acetylglucosamine (GlcNAc) and have a wide range of promising applications in the food, energy, and pharmaceutical industries, such as synergistic degradation of chitin with endo-chitinases and using GlcNAc to produce sialic acid, bioethanol, single-cell proteins, and pharmaceutical therapeutics. GlcNAcases also play an important role in the dynamic balance of cellular O-linked GlcNAc levels, catabolism of ganglioside storage in Tay-Sachs disease, and bacterial cell wall recycling and flagellar assembly...
November 16, 2017: Applied Microbiology and Biotechnology
https://www.readbyqxmd.com/read/29100724/expression-of-the-gm2-activator-protein-in-mouse-testis
#2
Yu-Teh Li, Su-Chen Li, I-Li Chen
The GM2-activator protein (GM2-AP), revealed by Li et al. in 1973 in human liver, was initially identified as a protein cofactor that stimulated β-hexosaminidase A to hydrolyze N-acetylgalactosamine from GM2 ganglioside. This cofactor was found to be missing in human variant AB Tay-Sachs disease. Over the years, the GM2-AP has also been shown to be involved in kidney vesicular transport, lipid presentation by CD1 molecule to T-cells, and interaction of human sperm with zona pellucida. Since the expression of the GM2-AP via mRNA detection in mouse tissues was found to be the highest in testis, we became interested in the localization of the GM2-AP at cellular level in mouse testis during spermatogenesis...
October 31, 2017: Reproductive Biology
https://www.readbyqxmd.com/read/29029825/-cherry-red-spot-macula-in-the-context-of-tay-sachs-disease
#3
M Zarrouki, M El Yadari, S Azennoud, S Harchali, S El Merrouni, W Bengarai, W Belaydi, Z Hajji, A Boulanouar, A Berraho
No abstract text is available yet for this article.
November 2017: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/28974375/murine-sialidase-neu3-facilitates-gm2-degradation-and-bypass-in-mouse-model-of-tay-sachs-disease
#4
Volkan Seyrantepe, Secil Akyildiz Demir, Zehra Kevser Timur, Johanna Von Gerichten, Christian Marsching, Esra Erdemli, Emin Oztas, Kohta Takahashi, Kazunori Yamaguchi, Nurselin Ates, Buket Dönmez Demir, Turgay Dalkara, Katrin Erich, Carsten Hopf, Roger Sandhoff, Taeko Miyagi
Tay-Sachs disease is a severe lysosomal storage disorder caused by mutations in Hexa, the gene that encodes for the α subunit of lysosomal β-hexosaminidase A (HEXA), which converts GM2 to GM3 ganglioside. Unexpectedly, Hexa(-/-) mice have a normal lifespan and show no obvious neurological impairment until at least one year of age. These mice catabolize stored GM2 ganglioside using sialidase(s) to remove sialic acid and form the glycolipid GA2, which is further processed by β-hexosaminidase B. Therefore, the presence of the sialidase (s) allows the consequences of the Hexa defect to be bypassed...
September 30, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28959811/in-silico-analyses-of-essential-interactions-of-iminosugars-with-the-hex-a-active-site-and-evaluation-of-their-pharmacological-chaperone-effects-for-tay-sachs-disease
#5
Atsushi Kato, Izumi Nakagome, Shinpei Nakagawa, Kyoko Kinami, Isao Adachi, Sarah F Jenkinson, Jérôme Désiré, Yves Blériot, Robert J Nash, George W J Fleet, Shuichi Hirono
The affinity of a series of iminosugar-based inhibitors exhibiting various ring sizes toward Hex A and their essential interactions with the enzyme active site were investigated. All the Hex A-inhibiting iminosugars tested formed hydrogen bonds with Arg178, Asp322, Tyr421 and Glu462 and had the favorable cation-π interaction with Trp460. Among them, DMDP amide (6) proved to be the most potent competitive inhibitor with a Ki value of 0.041 μM. We analyzed the dynamic properties of both DMDP amide (6) and DNJNAc (1) in aqueous solution using molecular dynamics (MD) calculations; the distance of the interaction between Asp322 and 3-OH and Glu323 and 6-OH was important for stable interactions with Hex A, reducing fluctuations in the plasticity of the active site...
November 15, 2017: Organic & Biomolecular Chemistry
https://www.readbyqxmd.com/read/28923328/mutation-frequency-of-three-neurodegenerative-lysosomal-storage-diseases-from-screening-to-treatment
#6
Ana Joana Duarte, Diogo Ribeiro, Pedro Oliveira, Olga Amaral
BACKGROUND: The ascertainment of mutation frequencies in the general population may have impact on the population's wellbeing and respective healthcare services. Furthermore, it may help define which approaches will be more effective for certain patients based on the genetic cause of disease. AIM OF THE STUDY: Determine the frequency of three mutations, known to be a major cause of three distinct Lysosomal Storage Diseases (LSDs). METHODS: The following pre-requisites were met: each mutation accounted for over 55% of the disease alleles among previously reported unrelated patients, all three diseases were among the most prevalent LSDs in the population under study, they all involved devastating deterioration of the nervous system, lacked curative treatment and may be fatal in childhood or adolescence...
April 2017: Archives of Medical Research
https://www.readbyqxmd.com/read/28922945/adeno-associated-virus-gene-therapy-in-a-sheep-model-of-tay-sachs-disease
#7
Heather L Gray-Edwards, Ashley N Randle, Stacy A Maitland, Hector R Benatti, Spencer M Hubbard, Peter F Canning, Matthew B Vogel, Brandon L Brunson, Misako Hwang, Lauren E Ellis, Allison M Bradbury, Atoska S Gentry, Amanda R Taylor, Anne A Wooldridge, Dewey R Wilhite, Randolph L Winter, Brian K Whitlock, Jacob A Johnson, Merilee Holland, Nouha Salibi, Ronald J Beyers, James L Sartin, Thomas S Denney, Nancy R Cox, Miguel Sena-Esteves, Douglas R Martin
Tay-Sachs disease (TSD) is a fatal neurodegenerative disorder caused by a deficiency of the enzyme hexosaminidase A (HexA). TSD also occurs in sheep, the only experimental model of TSD that has clinical signs of disease. The natural history of sheep TSD was characterized using serial neurological evaluations, 7 Tesla magnetic resonance imaging, echocardiograms, electrodiagnostics, and cerebrospinal fluid biomarkers. Intracranial gene therapy was also tested using AAVrh8 monocistronic vectors encoding the α-subunit of Hex (TSD α) or a mixture of two vectors encoding both the α and β subunits separately (TSD α + β) injected at high (1...
September 18, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28902054/ethical-issues-with-genetic-testing-for-tay-sachs
#8
Tricia Clayton
Several genetic disorders are specific to Jewish heritage; one of the most devastating is Tay-Sachs disease.Tay-Sachs is a fatal hereditary disease, causing progressive neurological problems for which there is no cure. Ethical issues surrounding genetic testing for Tay-Sachs within the Jewish community continue to be complex and multifaceted. A perspective of Tay-Sachs, using rights-based ethics and virtue ethics as a theoretical framework, is explored.
October 2017: Journal of Christian Nursing: a Quarterly Publication of Nurses Christian Fellowship
https://www.readbyqxmd.com/read/28748763/induced-pluripotent-stem-cell-technology-a-paradigm-shift-in-medical-science-for-drug-screening-and-disease-modeling
#9
Meera Nair, Sardul Singh Sandhu, Anil Kumar Sharma
BACKGROUND: Induced Pluripotent Stem Cell (IPSC) Technology is the most advanced research as it offers an attractive alternative for establishing patient-specific IPSCs to recapitulate phenotypes of not only monogenic diseases (viz. Thalassaemia, Sickle cell anemia, Haemophilia, Tay-Sachs disease), but also late-onset polygenic diseases (viz. Parkinson's disease, Alzheimer's disease, schizophrenia). Over the hindsight, numerous studies of the past and current scientists have led to the production, maturation and understanding of induced pluripotent stem cell technology and its use in basic and clinical research...
July 27, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28540636/gm2-activator-deficiency-caused-by-a-homozygous-exon-2-deletion-in-gm2a
#10
Patricia L Hall, Regina Laine, John J Alexander, Arunkanth Ankala, Lisa A Teot, Hart G W Lidov, Irina Anselm
GM2 activator (GM2A) deficiency (OMIM 613109) is a rare lysosomal storage disorder, with onset typically in infancy or early childhood. Clinically, it is almost indistinguishable from Tay-Sachs disease (OMIM 272800) or Sandhoff disease (OMIM 268800); however, traditionally available biochemical screening tests will most likely reveal normal results. We report a 2-year-old male with initially normal development until the age of 9 months, when he presented with developmental delay and regression. Workup at that time was unrevealing; at 15 months, he had abnormal brain MRI findings and a cherry red spot on ophthalmological examination...
May 25, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28503624/temporary-efficacy-of-pyrimethamine-in-juvenile-onset-tay-sachs-disease-caused-by-2-unreported-hexa-mutations-in-the-indian-population
#11
Anaita Udwadia-Hegde, Omkar Hajirnis
BACKGROUND: Juvenile Tay-Sachs disease is rarer than other forms of Tay-Sachs disease and is usually seen in children between the age of 2 and 10 years. Pyrimethamine as a pharmacological chaperone was used to increase β-hexosaminidase A activity in this patient. PATIENT: We describe a patient with Tay-Sachs disease from the Indian population, a juvenile case who presented with developmental regression starting at the age of three, initially with motor followed by language regression...
January 2017: Child neurology open
https://www.readbyqxmd.com/read/28476546/infantile-gangliosidoses-mapping-a-timeline-of-clinical-changes
#12
Jeanine R Jarnes Utz, Sarah Kim, Kelly King, Richard Ziegler, Lynn Schema, Evelyn S Redtree, Chester B Whitley
BACKGROUND: Infantile gangliosidoses include GM1 gangliosidosis and GM2 gangliosidosis (Tay-Sachs disease, Sandhoff disease). To date, natural history studies in infantile GM2 (iGM2) have been retrospective and conducted through surveys. Compared to iGM2, there is even less natural history information available on infantile GM1 disease (iGM1). There are no approved treatments for infantile gangliosidoses. Substrate reduction therapy using miglustat has been tried, but is limited by gastrointestinal side effects...
June 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28456990/prenatal-diagnosis-of-lysosomal-storage-disorders-using-chorionic-villi
#13
Jyotsna Verma, Sunita Bijarnia-Mahay, Ishwar C Verma
Prenatal enzymatic diagnosis for an array of lysosomal storage disorders (LSDs) can be performed accurately, provided that a confirmed diagnosis by biochemical/molecular study in the index case is available and a strict defined protocol, specific to each individual disorder is followed. The present chapter describes the protocols for reliable and accurate prenatal enzymatic diagnoses by fluorometric and spectrophotometric methods of lysosomal storage disorders: Gaucher, Fabry, Pompe, Niemann Pick A/B, Tay Sach, Sandhoff, GM1, Mucoplysaccharidoses, Wolman, Krabbe, Metachromatic leukodystrophy, and Batten diseases using uncultured chorionic villi samples...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28442549/neuraminidases-3-and-4-regulate-neuronal-function-by-catabolizing-brain-gangliosides
#14
Xuefang Pan, Camila De Britto Pará De Aragão, Juan P Velasco-Martin, David A Priestman, Harry Y Wu, Kohta Takahashi, Kazunori Yamaguchi, Luisella Sturiale, Domenico Garozzo, Frances M Platt, Nathalie Lamarche-Vane, Carlos R Morales, Taeko Miyagi, Alexey V Pshezhetsky
Gangliosides (sialylated glycolipids) play an essential role in the CNS by regulating recognition and signaling in neurons. Metabolic blocks in processing and catabolism of gangliosides result in the development of severe neurologic disorders, including gangliosidoses manifesting with neurodegeneration and neuroinflammation. We demonstrate that 2 mammalian enzymes, neuraminidases 3 and 4, play important roles in catabolic processing of brain gangliosides by cleaving terminal sialic acid residues in their glycan chains...
August 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28260576/shelley-z-reuter-testing-fate-tay-sachs-disease-and-the-right-to-be-responsible-minneapolis-mn-university-of-minnesota-press-2016-pp-%C3%A2-264-27-00-paperback-isbn-978-0-8166-9996-4
#15
https://www.readbyqxmd.com/read/28132521/direct-intracranial-injection-of-aavrh8-encoding-monkey-%C3%AE-n-acetylhexosaminidase-causes-neurotoxicity-in-the-primate-brain
#16
Diane Golebiowski, Imramsjah M J van der Bom, Churl-Su Kwon, Andrew D Miller, Keiko Petrosky, Allison M Bradbury, Stacy Maitland, Anna Luisa Kühn, Nina Bishop, Elizabeth Curran, Nilsa Silva, Dwijit GuhaSarkar, Susan V Westmoreland, Douglas R Martin, Matthew J Gounis, Wael F Asaad, Miguel Sena-Esteves
GM2 gangliosidoses, including Tay-Sachs disease and Sandhoff disease, are lysosomal storage disorders caused by deficiencies in β-N-acetylhexosaminidase (Hex). Patients are afflicted primarily with progressive central nervous system (CNS) dysfunction. Studies in mice, cats, and sheep have indicated safety and widespread distribution of Hex in the CNS after intracranial vector infusion of AAVrh8 vectors encoding species-specific Hex α- or β-subunits at a 1:1 ratio. Here, a safety study was conducted in cynomolgus macaques (cm), modeling previous animal studies, with bilateral infusion in the thalamus as well as in left lateral ventricle of AAVrh8 vectors encoding cm Hex α- and β-subunits...
June 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28048545/we-de-207a-04-advances-in-radiological-neuro-endovascular-interventional-imaging
#17
S Rudin
1. Parallels in the evolution of x-ray angiographic systems and devices used for minimally invasive endovascular therapy Charles Strother - DSA, invented by Dr. Charles Mistretta at UW-Madison, was the technology which enabled the development of minimally invasive endovascular procedures. As DSA became widely available and the potential benefits for accessing the cerebral vasculature from an endovascular approach began to be apparent, industry began efforts to develop tools for use in these procedures. Along with development of catheters, embolic materials, pushable coils and the GDC coils there was simultaneous development and improvement of 2D DSA image quality and the introduction of 3D DSA...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28048454/we-de-207a-00-advances-in-image-guided-neurointerventions-clinical-pull-and-technology-push
#18
Jeffrey Siewerdsen, Rebecca Fahrig
1. Parallels in the evolution of x-ray angiographic systems and devices used for minimally invasive endovascular therapy Charles Strother - DSA, invented by Dr. Charles Mistretta at UW-Madison, was the technology which enabled the development of minimally invasive endovascular procedures. As DSA became widely available and the potential benefits for accessing the cerebral vasculature from an endovascular approach began to be apparent, industry began efforts to develop tools for use in these procedures. Along with development of catheters, embolic materials, pushable coils and the GDC coils there was simultaneous development and improvement of 2D DSA image quality and the introduction of 3D DSA...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28047800/we-de-207a-01-parallels-in-the-evolution-of-x-ray-angiographic-systems-and-devices-used-for-minimally-invasive-endovascular-therapy
#19
C Strother
1. Parallels in the evolution of x-ray angiographic systems and devices used for minimally invasive endovascular therapy Charles Strother - DSA, invented by Dr. Charles Mistretta at UW-Madison, was the technology which enabled the development of minimally invasive endovascular procedures. As DSA became widely available and the potential benefits for accessing the cerebral vasculature from an endovascular approach began to be apparent, industry began efforts to develop tools for use in these procedures. Along with development of catheters, embolic materials, pushable coils and the GDC coils there was simultaneous development and improvement of 2D DSA image quality and the introduction of 3D DSA...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28047144/we-de-207a-02-advances-in-cone-beam-ct-anatomical-and-functional-imaging-in-angio-suite-to-enable-one-stop-shop-stroke-imaging-workflow
#20
G Chen
1. Parallels in the evolution of x-ray angiographic systems and devices used for minimally invasive endovascular therapy Charles Strother - DSA, invented by Dr. Charles Mistretta at UW-Madison, was the technology which enabled the development of minimally invasive endovascular procedures. As DSA became widely available and the potential benefits for accessing the cerebral vasculature from an endovascular approach began to be apparent, industry began efforts to develop tools for use in these procedures. Along with development of catheters, embolic materials, pushable coils and the GDC coils there was simultaneous development and improvement of 2D DSA image quality and the introduction of 3D DSA...
June 2016: Medical Physics
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