Results 21 to 30 of about 2,842 (215)

Genome Analysis of Planctomycetes Inhabiting Blades of the Red Alga [PDF]

, 2016
Porphyra is a macrophytic red alga of the Bangiales that is important ecologically and economically. We describe the genomes of three bacteria in the phylum Planctomycetes (designated P1, P2 and P3) that were isolated from blades of Porphyra umbilicalis (
A Stamatakis, Arthur R. Grossman, B Kloareg, C Burke, C Jenkins, C Jogler, CE Wegner, CJ Gobler, D Ghosh, D Rentsch, DL Hatfield, E Alm, E Kazamia, ES Arner, F Goecke, FO Glockner, G Barbeyron, G Correc, G Levican, G Michel, G Michel, GM Preston, H Romero, HP Harding, J Allouch, J Allouch, J Bondoso, J Waring, JA Vorholt, JA Vorholt, Jane Grimwood, Jay W. Kim, Jean-François Pombert, Jeremy Schmutz, Jerry Jenkins, JH Hehemann, JH Hehemann, JH Hehemann, JH Skerratt, JL Rosner, JM Sieburth, John W. Stiller, JW Stiller, K Tait, Konstantinos Mavromatis, Kurt LaButti, L Fries, L Johansson, L Provasoli, L Puerto-Galan, LN Miranda, LS Mukai, M Jam, M Magrane, M Spoerner, M Toesch, Mansi Chovatia, Matt Nolan, Matthew Zane, MM Bengtsson, N Fernandes, NA Blouin, NA Blouin, OI Nedashkovskaya, OM Lage, P Lu, Q Zhang, R Pushker, R Santarella-Mellwig, R Santarella-Mellwig, S Arbogast, S Gromer, S Hou, S Kraan, Simon Prochnik, SR Hanson, SR Longford, Susan H. Brawley, T Barbeyron, T Barbeyron, T Dierks, T Lachnit, T Woyke, TJ Treangen, V Hofstetter, Y Matsuo, Y Matsuo, Y Zhang, ZA Popper   +88 more
core   +8 more sources

Ex Vivo Gene Therapy Treats Bone Complications of Mucopolysaccharidosis Type II Mouse Models through Bone Remodeling Reactivation

Molecular Therapy: Methods & Clinical Development, 2020
Mucopolysaccharidosis type II is a disease caused by organ accumulation of glycosaminoglycans due to iduronate 2-sulfatase deficiency. This study investigated the pathophysiology of the bone complications associated with mucopolysaccharidosis II and the ...
Miho Wada, Yohta Shimada, Sayoko Iizuka, Natsumi Ishii, Hiromi Hiraki, Toshiaki Tachibana, Kazuhiro Maeda, Mitsuru Saito, Shoutaro Arakawa, Takuya Ishimoto, Takayoshi Nakano, Hiroyuki Ida, Toya Ohashi, Hiroshi Kobayashi   +13 more
doaj   +1 more source

Allergic Reactions at Enzyme Replacement Therapy in Children with Mucopolysaccharidosis Type II

Вопросы современной педиатрии, 2021
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is rare hereditary disease caused by changes in the IDS gene and associated deficiency of lysosomal enzyme iduronate-2-sulfatase (I2S).
Julia G. Levina, Nato D. Vashakmadze, Leyla S. Namazova-Baranova, Elena A. Vishneva, Natalia V. Zhurkova, Kamilla E. Efendieva, Anna A. Alekseeva, Vera G. Kalugina   +7 more
doaj   +1 more source

Hurler Syndrome Glycosaminoglycans Decrease in Cerebrospinal Fluid without Brain‐Targeted Therapy

Annals of Neurology, Volume 94, Issue 6, Page 1182-1186, December 2023., 2023
Novel therapies for Hurler syndrome aim to cross the blood–brain barrier (BBB) to target neurodegeneration by degrading glycosaminoglycans (GAG). BBB penetration has been assumed with decreased cerebrospinal fluid (CSF) GAG, yet little is known about CSF GAG without brain‐targeting therapies.
Troy C. Lund, Elizabeth Braunlin, Lynda E. Polgreen, Ashish O. Gupta, Paul J. Orchard, Julie B. Eisengart   +5 more
wiley   +1 more source

Drug delivery in overcoming the blood-brain barrier: role of nasal mucosal grafting [PDF]

, 2017
The blood–brain barrier (BBB) plays a fundamental role in protecting and maintaining the homeostasis of the brain. For this reason, drug delivery to the brain is much more difficult than that to other compartments of the body. In order to bypass or cross
Carafa, Maria, Di Marzio, Luisa, Hanieh, PATRIZIA NADIA, Marianecci, Carlotta, Paolino, Donatella, Rinaldi, Federica   +5 more
core   +1 more source

Dose selection for biological enzyme replacement therapy indicated for inborn errors of metabolism

Clinical and Translational Science, Volume 16, Issue 12, Page 2438-2457, December 2023., 2023
Abstract This paper summarizes key features of the dose‐finding strategies used in the development of 11 approved new molecular entities that are first‐in‐class enzyme replacement therapy (ERT), with a goal to gain insight into the dose exploration approaches to inform efficient dose‐finding in future development of biological products for Inborn ...
Yuen Yi Hon, Jie Wang, Henrietta Abodakpi, Anand Balakrishnan, Michael Pacanowski, Sushanta Chakder, Patroula Smpokou, Kathleen Donohue, Yow‐Ming C. Wang   +8 more
wiley   +1 more source

Diagnosing mucopolysaccharidosis IVA [PDF]

, 2013
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) activity. Diagnosis can be challenging and requires agreement of
A Fujimoto, A James, A Megarbane, A Ohashi, A Tylki-Szymanska, AI Arbisser, AL Beaudet, AM Montano, AN Doman, Andrea Schenone, C Prat, CA Pennock, CB Whitley, CB Whitley, CG Summers, Christian J. Hendriksz, Chunli Yu, D Krakow, David Ketteridge, DH Cohn, DW Hollister, E Baker, E Wessler, EF Neufeld, G Gray, G Kohn, G Nishimura, GR Fraser, H Groebe, H Northover, H Zhao, Heather J. Church, HV Dyggve, J Glossl, J Glossl, J Muenzer, J Nelson, J Singh, J Spranger, JE Wraith, JE Wraith, Jerry N. Thompson, JG Jong de, JG Jong de, JJ Hopwood, JN Isenberg, JP Hintze, K Longdon, K Nakamura, K Ullrich, Karen Tylee, Katie Harvey, LA Martell, LS Levin, M Aldenhoven, M Beck, M Burin, M Masuno, M Piraud, M Shohat, Maira Graeff Burin, Marzia Pasquali, Michael Beck, Michael Fietz, MP Whyte, MV Camelier, Nicole Miller, OP Diggelen van, Otto P. van Diggelen, P Harmatz, Paul Harmatz, R Hata, R Humbel, R Lawrence, R Matalon, Roberto Giugliani, S Catarzi, S Chaisomchit, S Fukuda, S Gosele, S Pajares, S Tomatsu, S Tomatsu, S Tomatsu, S Tomatsu, S Tomatsu, Sara M. Hawley, SB Frazier, T Dierks, T Khaliq, T Oguma, T Wood, T Yutaka, TA Duffey, Timothy C. Wood, TJ Lehman, V El Ghouzzi, VA McKusick, Vânia D’Almeida, W Holzgreve, WJ Kleijer, Wuh-Liang Hwu, Y Miyamoto, Y Nakashima, Yin-Hsiu Chien, Zoltan Lukacs, ZS Gucev   +106 more
core   +4 more sources

Bioinformatic Analysis of the Human Recombinant Iduronate 2-Sulfate Sulfatase [PDF]

The Open Microbiology Journal, 2016
Mucopolysaccharidosis type II is a human recessive disease linked to the X chromosome caused by deficiency of lysosomal enzyme Iduronate 2-Sulfate Sulfatase (IDS), which leads to accumulation of glycosaminoglycans in tissues and organs. The human enzyme has been expressed inEscherichia coliandPichia pastorisin attempt to develop more successful ...
Morales-Álvarez, Edwin D., Rivera-Hoyos, Claudia M., Landázuri, Patricia, Poutou-Piñales, Raúl A., Pedroza-Rodríguez, Aura M.   +4 more
openaire   +2 more sources

Advances in therapies for neurological lysosomal storage disorders

Journal of Inherited Metabolic Disease, Volume 46, Issue 5, Page 874-905, September 2023., 2023
Abstract Lysosomal Storage Disorders (LSDs) are a diverse group of inherited, monogenic diseases caused by functional defects in specific lysosomal proteins. The lysosome is a cellular organelle that plays a critical role in catabolism of waste products and recycling of macromolecules in the body.
S. Ellison, H. Parker, B. Bigger
wiley   +1 more source

Multiple sulfatase deficiency with neonatal manifestation. [PDF]

, 2014
Multiple Sulfatase Deficiency (MSD; OMIM 272200) is a rare autosomal recessive inborn error of metabolism caused by mutations in the sulfatase modifying factor 1 gene, encoding the formylglycine-generating enzyme (FGE), and resulting in tissue ...
Ballabio, A., Bernasconi, S., Braibanti, S., Frattini, D., Gabrielli, O., Galeazzi, T., Garavelli, L., Gargano, G., Gelmini, C., Iori, A., Iughetti, L., Ivanovski, I., Melli, N., Padella, L., Pedori, S., Pepe, S., Rosato, S., Santoro, L., Superti-Furga, A., Wischmeijer, A., Zampini, L.   +20 more
core   +1 more source