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Journal articles on the topic 'Mucopolysaccharidosis type IIIB'

Author: Grafiati

Published: 4 June 2021

Last updated: 25 April 2022

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1

Gorbunova, V. N., and N. V. Buchinskaya. "Lysosomal storage diseases. Mucopolysaccharidosis type III, sanfilippo syndrome." Pediatrician (St. Petersburg) 12, no. 4 (2021): 69–81. http://dx.doi.org/10.17816/ped12469-81.

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The review describes the clinical, biochemical and molecular genetic characteristics of autosomal recessive mucopolysaccharidosis type III, or Sanfilippo syndrome. This is a genetically heterogeneous group of rare, but similar in nature, diseases caused by a deficiency of one of the four lysosomal enzymes involved in the degradation of heparan sulfate. All types of mucopolysaccharidosis III are characterized by severe degeneration of the central nervous system in combination with mild somatic manifestations, which is explained by the accumulation of high concentrations of heparan sulfate in th

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2

Karageorgos, L., B. Hill, M. J. Bawden, and J. J. Hopwood. "Bovine mucopolysaccharidosis type IIIB." Journal of Inherited Metabolic Disease 30, no. 3 (2007): 358–64. http://dx.doi.org/10.1007/s10545-007-0539-5.

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3

Kim, Min-Sun, Aram Yang, Eu-seon Noh, et al. "Natural History and Molecular Characteristics of Korean Patients with Mucopolysaccharidosis Type III." Journal of Personalized Medicine 12, no. 5 (2022): 665. http://dx.doi.org/10.3390/jpm12050665.

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Background: Mucopolysaccharidosis type III (MPS III) is an autosomal recessive lysosomal storage disorder characterised by progressive neurocognitive deterioration. MPS III subtypes are clinically indistinguishable, with a wide range of symptoms and variable severity. The natural history of this disorder within an Asian population has not yet been extensively studied. This study investigated the natural history of Korean patients with MPS III. Methods: Thirty-four patients from 31 families diagnosed with MPS III from January 1997 to May 2020 in Samsung Medical Centre were enrolled. Clinical, m

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4

Brady, J., A. Trehan, D. Landis, and C. Toro. "Mucopolysaccharidosis type IIIB (MPS IIIB) masquerading as a behavioural disorder." Case Reports 2013, may08 1 (2013): bcr2013009592. http://dx.doi.org/10.1136/bcr-2013-009592.

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5

Wilkinson, Fiona L., Rebecca J. Holley, Kia J. Langford-Smith, et al. "Neuropathology in Mouse Models of Mucopolysaccharidosis Type I, IIIA and IIIB." PLoS ONE 7, no. 4 (2012): e35787. http://dx.doi.org/10.1371/journal.pone.0035787.

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6

Hemsley, Kim, and Adeline Lau. "Intracerebral gene therapy for mucopolysaccharidosis type IIIB syndrome." Lancet Neurology 16, no. 9 (2017): 681–82. http://dx.doi.org/10.1016/s1474-4422(17)30200-4.

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7

Yang, Qiang, Xueyan Zhao, Yuyun Xing, et al. "A model of mucopolysaccharidosis type IIIB in pigs." Biology Open 7, no. 10 (2018): bio035386. http://dx.doi.org/10.1242/bio.035386.

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8

Losada, Juan Camilo, Carlos J. Alméciga, and Janneth Gonzalez. "identification of pharmacological chaperones for mucopolysaccharidosis type IIIB." Molecular Genetics and Metabolism 129, no. 2 (2020): S101. http://dx.doi.org/10.1016/j.ymgme.2019.11.256.

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9

De Pasquale, Valeria, Michele Costanzo, Rosa Siciliano, et al. "Proteomic Analysis of Mucopolysaccharidosis IIIB Mouse Brain." Biomolecules 10, no. 3 (2020): 355. http://dx.doi.org/10.3390/biom10030355.

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Mucopolysaccharidosis IIIB (MPS IIIB) is an inherited metabolic disease due to deficiency of α-N-Acetylglucosaminidase (NAGLU) enzyme with subsequent storage of undegraded heparan sulfate (HS). The main clinical manifestations of the disease are profound intellectual disability and neurodegeneration. A label-free quantitative proteomic approach was applied to compare the proteome profile of brains from MPS IIIB and control mice to identify altered neuropathological pathways of MPS IIIB. Proteins were identified through a bottom up analysis and 130 were significantly under-represented and 74 ov

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10

VILLANI, Guglielmo R. D., Antonia FOLLENZI, Borghina VANACORE, Carmela di DOMENICO, Luigi NALDINI, and Paola di NATALE. "Correction of mucopolysaccharidosis type IIIb fibroblasts by lentiviral vector-mediated gene transfer." Biochemical Journal 364, no. 3 (2002): 747–53. http://dx.doi.org/10.1042/bj20011872.

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Mucopolysaccharidosis type IIIB (MPS IIIB; or Sanfilippo syndrome type B) is a lysosomal disease, due to glycosaminoglycan storage caused by mutations on the α-N-acetylglucosaminidase (NAGLU) gene. The disease is characterized by neurological dysfunction but relatively mild somatic manifestations. No effective treatment is available for affected patients. In the present study, we evaluated the role of a lentiviral vector as the transducing agent of NAGLU cDNA in MPS IIIB fibroblasts. The vector expressed high transduction efficiency and high levels of enzymic activity, 20-fold above normal lev

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11

Kuzenkova, Ludmila M., Anait K. Gevorkyan, Liliya A. Osipova, et al. "Subdural hematomas in a boy with mucopolysaccharidosis type IIIB." Molecular Genetics and Metabolism 120, no. 1-2 (2017): S79. http://dx.doi.org/10.1016/j.ymgme.2016.11.189.

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12

Beesley, C. E., M. Jackson, E. P. Young, A. Vellodi, and B. G. Winchester. "Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB)." Journal of Inherited Metabolic Disease 28, no. 5 (2005): 759–67. http://dx.doi.org/10.1007/s10545-005-0093-y.

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13

Yogalingam, Gouri, and John J. Hopwood. "Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications." Human Mutation 18, no. 4 (2001): 264–81. http://dx.doi.org/10.1002/humu.1189.

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14

Shapiro, E., K. King, A. Ahmed, et al. "The neurobehavioral phenotype in mucopolysaccharidosis Type IIIB: An exploratory study." Molecular Genetics and Metabolism Reports 6 (March 2016): 41–47. http://dx.doi.org/10.1016/j.ymgmr.2016.01.003.

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15

Kan, Shih-hsin, Larisa A. Troitskaya, Carolyn S. Sinow та ін. "Insulin-like growth factor II peptide fusion enables uptake and lysosomal delivery of α-N-acetylglucosaminidase to mucopolysaccharidosis type IIIB fibroblasts". Biochemical Journal 458, № 2 (2014): 281–89. http://dx.doi.org/10.1042/bj20130845.

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Treatment of mucopolysaccharidosis type IIIB is hindered by inadequate intracellular uptake of recombinantly produced NAGLU (α-N-acetylglucosaminidase). We generated an improved form of NAGLU by fusing it to insulin-like growth factor II, which is a natural ligand for the mannose 6-phosphate receptor.

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16

Lee-Chen, G.-J. "Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB)." Journal of Medical Genetics 39, no. 2 (2002): 3e—3. http://dx.doi.org/10.1136/jmg.39.2.e3.

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17

Vitry, Sandrine, Jérôme Ausseil, Michael Hocquemiller, Stéphanie Bigou, Renata dos Santos Coura, and Jean Michel Heard. "Enhanced degradation of synaptophysin by the proteasome in mucopolysaccharidosis type IIIB." Molecular and Cellular Neuroscience 41, no. 1 (2009): 8–18. http://dx.doi.org/10.1016/j.mcn.2009.01.001.

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18

Brady, Jacqueline, Aditi Trehan, Rena Godfrey, et al. "Mucopolysaccharidosis IIIB (Sanfilippo syndrome type B) masquerading as a behavioral disorder." Molecular Genetics and Metabolism 108, no. 2 (2013): S26. http://dx.doi.org/10.1016/j.ymgme.2012.11.042.

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19

Kubaski, Francyne, Marina Zambrano, Luciana Giugliani, et al. "MPS Brazil Network: A summary of all mucopolysaccharidosis type IIIB patients." Molecular Genetics and Metabolism 126, no. 2 (2019): S88. http://dx.doi.org/10.1016/j.ymgme.2018.12.218.

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20

Kim, Ja Hye, Yang Hyun Chi, Gu-Hwan Kim, Han-Wook Yoo, and Jun Hwa Lee. "Long-term clinical course of a patient with mucopolysaccharidosis type IIIB." Korean Journal of Pediatrics 59, Suppl 1 (2016): S37. http://dx.doi.org/10.3345/kjp.2016.59.11.s37.

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21

Valstar, Marlies J., Hennie T. Bruggenwirth, Renske Olmer, et al. "Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype." Journal of Inherited Metabolic Disease 33, no. 6 (2010): 759–67. http://dx.doi.org/10.1007/s10545-010-9199-y.

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22

Kaczor-Kamińska, Marta, Kamil Kamiński, and Maria Wróbel. "Heparan Sulfate, Mucopolysaccharidosis IIIB and Sulfur Metabolism Disorders." Antioxidants 11, no. 4 (2022): 678. http://dx.doi.org/10.3390/antiox11040678.

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Mucopolysaccharidosis, type IIIB (MPS IIIB) is a rare disease caused by mutations in the N-alpha-acetylglucosaminidase (NAGLU) gene resulting in decreased or absent enzyme activity. On the cellular level, the disorder is characterized by the massive lysosomal storage of heparan sulfate (HS)—one species of glycosaminoglycans. HS is a sulfur-rich macromolecule, and its accumulation should affect the turnover of total sulfur in cells; according to the studies presented here, it, indeed, does. The lysosomal degradation of HS in cells produces monosaccharides and inorganic sulfate (SO42−). Sulfate

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23

Samia, Pauline, Nicky Wieselthaler, George F. van der Watt, and Jo M. Wilmshurst. "Hemiatrophy of the Spinal Cord in a Patient With Mucopolysaccharidosis Type IIIB." Journal of Child Neurology 25, no. 10 (2010): 1288–91. http://dx.doi.org/10.1177/0883073809360416.

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24

Valentine, Bethann N., N. M. Ellinwood, and Jodi D. Smith. "Evaluation of neurofilament light chain as a biomarker for mucopolysaccharidosis type IIIB." Molecular Genetics and Metabolism 135, no. 2 (2022): S122. http://dx.doi.org/10.1016/j.ymgme.2021.11.325.

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25

Ellinwood, N. M., P. Wang, T. Skeen та ін. "A model of mucopolysaccharidosis IIIB (Sanfilippo syndrome type IIIB): N -acetyl-α-D-glucosaminidase deficiency in Schipperke dogs". Journal of Inherited Metabolic Disease 26, № 5 (2003): 489–504. http://dx.doi.org/10.1023/a:1025177411938.

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26

Oh, Loreanne S., Michele D. Poe, and Maria L. Escolar. "Validation of an expert system-generated checklist for the early diagnosis of mucopolysaccharidosis type IIIA and IIIB." Molecular Genetics and Metabolism 129, no. 2 (2020): S118—S119. http://dx.doi.org/10.1016/j.ymgme.2019.11.307.

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27

Bigger, Brian, Stuart Ellison, Daniel Fil, et al. "Neurological correction of mucopolysaccharidosis type IIIB mice by haematopoietic stem cell gene therapy." Molecular Genetics and Metabolism 120, no. 1-2 (2017): S28. http://dx.doi.org/10.1016/j.ymgme.2016.11.043.

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28

Hocquemiller, Michaël, Sandrine Vitry, Stéphanie Bigou, Julie Bruyère, Jérôme Ausseil, and Jean Michel Heard. "GAP43 overexpression and enhanced neurite outgrowth in mucopolysaccharidosis type IIIB cortical neuron cultures." Journal of Neuroscience Research 88, no. 1 (2009): 202–13. http://dx.doi.org/10.1002/jnr.22190.

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29

Di NATALE, Paola, Carmela Di DOMENICO, Nadia GARGIULO, et al. "Treatment of the mouse model of mucopolysaccharidosis type IIIB with lentiviral-NAGLU vector." Biochemical Journal 388, no. 2 (2005): 639–46. http://dx.doi.org/10.1042/bj20041702.

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The Sanfilippo syndrome type B (mucopolysaccharidosis IIIB) is an autosomal recessive disorder due to mutations in the gene encoding NAGLU (α-N-acetylglucosaminidase), one of the enzymes required for the degradation of the GAG (glycosaminoglycan) heparan sulphate. No therapy exists for affected patients. We have shown previously the efficacy of lentiviral-NAGLU-mediated gene transfer in correcting in vitro the defect on fibroblasts of patients. In the present study, we tested the therapy in vivo on a knockout mouse model using intravenous injections. Mice (8–10 weeks old) were injected with on

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30

Huang, Wei, Yu-Shan Cheng, Shu Yang, et al. "Disease modeling for Mucopolysaccharidosis type IIIB using patient derived induced pluripotent stem cells." Experimental Cell Research 407, no. 1 (2021): 112785. http://dx.doi.org/10.1016/j.yexcr.2021.112785.

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31

Wilkinson, Fiona, Rebecca Holley, Kia Langford-Smith, et al. "Neuropathological changes are more pronounced in mouse models of Mucopolysaccharidosis (MPS) type IIIA and IIIB over MPS I." Molecular Genetics and Metabolism 108, no. 2 (2013): S99—S100. http://dx.doi.org/10.1016/j.ymgme.2012.11.273.

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32

Heard, Jean-Michel, Sandrine Vitry, Julie Bruyère, et al. "58. Abnormal vacuoles distinct from lysosomes in a mouse model of mucopolysaccharidosis type IIIB." Molecular Genetics and Metabolism 99, no. 2 (2010): S20. http://dx.doi.org/10.1016/j.ymgme.2009.10.075.

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33

Palmieri, C., U. Giger, P. Wang, M. Pizarro, and H. L. Shivaprasad. "Pathological and Biochemical Studies of Mucopolysaccharidosis Type IIIB (Sanfilippo Syndrome Type B) in Juvenile Emus (Dromaius novaehollandiae)." Veterinary Pathology 52, no. 1 (2014): 160–69. http://dx.doi.org/10.1177/0300985814529314.

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34

Mohammed, Eman E. A., Elizabeth M. Snella, Michelle M. Rutz-Mendicino, et al. "Accelerated clinical disease and pathology in mucopolysaccharidosis type IIIB and GalNAc transferase double knockout mice." Molecular Genetics and Metabolism 107, no. 1-2 (2012): 129–35. http://dx.doi.org/10.1016/j.ymgme.2012.07.017.

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35

Chu, Samuel S., Chloe L. Christensen, and Francis Y. M. Choy. "The impact of GC content on CRISPR/Cas9 gene editing: implications for mucopolysaccharidosis type IIIB." Molecular Genetics and Metabolism 123, no. 2 (2018): S32. http://dx.doi.org/10.1016/j.ymgme.2017.12.061.

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36

Ribera, Albert, Virginia Haurigot, Miguel Garcia, et al. "Biochemical, histological and functional correction of mucopolysaccharidosis Type IIIB by intra-cerebrospinal fluid gene therapy." Human Molecular Genetics 24, no. 7 (2014): 2078–95. http://dx.doi.org/10.1093/hmg/ddu727.

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37

Guan, Jingyun, Guangyan Tian, Rui Dong, et al. "Induced pluripotent stem cell line (SDQLCHi041-A) from a male patient with mucopolysaccharidosis type IIIB." Stem Cell Research 52 (April 2021): 102212. http://dx.doi.org/10.1016/j.scr.2021.102212.

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38

De Pasquale, Valeria, Marianna Caterino, Michele Costanzo, Roberta Fedele, Margherita Ruoppolo, and Luigi Michele Pavone. "Targeted Metabolomic Analysis of a Mucopolysaccharidosis IIIB Mouse Model Reveals an Imbalance of Branched-Chain Amino Acid and Fatty Acid Metabolism." International Journal of Molecular Sciences 21, no. 12 (2020): 4211. http://dx.doi.org/10.3390/ijms21124211.

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Mucopolysaccharidoses (MPSs) are inherited disorders of the glycosaminoglycan (GAG) metabolism. The defective digestion of GAGs within the intralysosomal compartment of affected patients leads to a broad spectrum of clinical manifestations ranging from cardiovascular disease to neurological impairment. The molecular mechanisms underlying the progression of the disease downstream of the genetic mutation of genes encoding for lysosomal enzymes still remain unclear. Here, we applied a targeted metabolomic approach to a mouse model of PS IIIB, using a platform dedicated to the diagnosis of inherit

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39

Kaczor-Kamińska, Marta, Krystyna Stalińska, Kamil Kamiński, et al. "Murine cellular model of mucopolysaccharidosis, type IIIB (MPS IIIB) – A preliminary study with particular emphasis on the non-oxidative l-cysteine metabolism." Biochimie 174 (July 2020): 84–94. http://dx.doi.org/10.1016/j.biochi.2020.04.015.

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40

Meijer, Olga L., Heleen te Brinke, Rob Ofman, Lodewijk IJlst, Naomi van Vlies та Frits A. Wijburg. "Processing and trafficking of N-acetyl-α-glucosaminidase in fibroblasts of patients with mucopolysaccharidosis type IIIB". Molecular Genetics and Metabolism 120, № 1-2 (2017): S95. http://dx.doi.org/10.1016/j.ymgme.2016.11.236.

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41

Meijer, O. L. M., H. te Brinke, R. Ofman, L. IJlst, F. A. Wijburg та N. van Vlies. "Processing of mutant N -acetyl-α-glucosaminidase in mucopolysaccharidosis type IIIB fibroblasts cultured at low temperature". Molecular Genetics and Metabolism 122, № 1-2 (2017): 100–106. http://dx.doi.org/10.1016/j.ymgme.2017.07.005.

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42

Aronovich, Elena L., Jade M. Johnston, Ping Wang, Urs Giger, and Chester B. Whitley. "Molecular Basis of Mucopolysaccharidosis Type IIIB in Emu (Dromaius novaehollandiae): An Avian Model of Sanfilippo Syndrome Type B<." Genomics 74, no. 3 (2001): 299–305. http://dx.doi.org/10.1006/geno.2001.6552.

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43

Tardieu, Marc, Michel Zérah, Marie-Lise Gougeon, et al. "Intracerebral gene therapy in children with mucopolysaccharidosis type IIIB syndrome: an uncontrolled phase 1/2 clinical trial." Lancet Neurology 16, no. 9 (2017): 712–20. http://dx.doi.org/10.1016/s1474-4422(17)30169-2.

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44

McBride, Kim L., Kristen Truxal, Kelly McNally, et al. "Design of a phase I/II gene transfer clinical trial of rAAV9.CMV.hNAGLU for mucopolysaccharidosis type IIIB." Molecular Genetics and Metabolism 117, no. 2 (2016): S78—S79. http://dx.doi.org/10.1016/j.ymgme.2015.12.355.

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45

Kan, S. h., M. Aoyagi-Scharber, S. Q. Le, et al. "Delivery of an enzyme-IGFII fusion protein to the mouse brain is therapeutic for mucopolysaccharidosis type IIIB." Proceedings of the National Academy of Sciences 111, no. 41 (2014): 14870–75. http://dx.doi.org/10.1073/pnas.1416660111.

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46

Alaei, Mohammad Reza, Meghdad Kheirkhahan, Saeed Talebi, Elham Davoudi-Dehaghani, and Mohammad Keramatipour. "Once in a Blue Moon, a Very Rare Coexistence of Glutaric Acidemia Type I and Mucopolysaccharidosis Type IIIB in a Patient." Iranian Biomedical Journal 24, no. 3 (2020): 201–5. http://dx.doi.org/10.29252/ibj.24.3.201.

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47

Meijer, O. L. M., L. Welling, M. J. Valstar та ін. "Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB". Journal of Inherited Metabolic Disease 39, № 3 (2016): 437–45. http://dx.doi.org/10.1007/s10545-016-9916-2.

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48

Ugur, Cagatay, Sabide Duygu Tunas, Ozden Sukran Uneri, Zeynep Goker, and Miray Cetinkaya. "Atomoxetine Treatment for Attention Deficit and Hyperactivity Disorder Symptoms in a Child Who Has Mucopolysaccharidosis Type IIIB Disorder." International Journal of Clinical Pediatrics 5, no. 1 (2016): 15–18. http://dx.doi.org/10.14740/ijcp237w.

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49

Matthew Ellinwood, N., Bethann N. Johnson, Jackie K. Jens, et al. "Twenty-six week or longer intracerebroventricular (ICV) infusion study of BMN 250 administered once every 2weeks in a canine model of mucopolysaccharidosis type IIIB (MPS IIIB)." Molecular Genetics and Metabolism 117, no. 2 (2016): S43. http://dx.doi.org/10.1016/j.ymgme.2015.12.248.

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50

Beesley, C. E., E. P. Young, A. Vellodi, and B. G. Winchester. "Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB)." Journal of Medical Genetics 35, no. 11 (1998): 910–14. http://dx.doi.org/10.1136/jmg.35.11.910.

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