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Disease modeling for Mucopolysaccharidosis type IIIB using patient derived induced pluripotent stem cells.
Huang W, Cheng YS, Yang S, Swaroop M, Xu M, Huang W, Zheng W. Huang W, et al. Exp Cell Res. 2021 Oct 1;407(1):112785. doi: 10.1016/j.yexcr.2021.112785. Epub 2021 Aug 16. Exp Cell Res. 2021. PMID: 34411609 Free PMC article.
Mucopolysaccharidosis type IIIB (MPS IIIB) is a lysosomal disease caused by mutations in the NAGLU gene encoding alpha-N-acetylglucosaminidase (NAGLU) which degrades heparan sulfate in lysosomes. Deficiency in NAGLU results in lysosomal a …
Mucopolysaccharidosis type IIIB (MPS IIIB) is a lysosomal disease caused by mutations in the NAGLU gene encoding alpha-N …
A Drosophila model of mucopolysaccharidosis IIIB.
Simkhada B, Nazario-Yepiz NO, Freymuth PS, Lyman RA, Shankar V, Wiggins K, Flanagan-Steet H, Basu A, Weiss RJ, Anholt RRH, Mackay TFC. Simkhada B, et al. Genetics. 2025 Mar 17;229(3):iyae219. doi: 10.1093/genetics/iyae219. Genetics. 2025. PMID: 39737777 Free PMC article.
Mucopolysaccharidosis type IIIB is a rare lysosomal storage disorder caused by defects in alpha-N-acetylglucosaminidase (NAGLU) and characterized by severe effects in the central nervous system. ...Here, we used the functional Drosophila melanogaster o …
Mucopolysaccharidosis type IIIB is a rare lysosomal storage disorder caused by defects in alpha-N-acetylglucosaminidase …
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network.
Montenegro YHA, de Souza CFM, Kubaski F, Trapp FB, Burin MG, Michelin-Tirelli K, Leistner-Segal S, Facchin ACB, Medeiros FS, Giugliani L, Ribeiro EM, Lourenço CM, Cardoso-Dos-Santos AC, Ribeiro MG, Kim CA, Castro MAA, Embiruçu EK, Steiner CE, Moreira MLC, Montano HQ, Baldo G, Giugliani R. Montenegro YHA, et al. Am J Med Genet A. 2022 Mar;188(3):760-767. doi: 10.1002/ajmg.a.62572. Epub 2021 Nov 22. Am J Med Genet A. 2022. PMID: 34806811
Mucopolysaccharidosis type IIIB is a rare autosomal recessive disorder characterized by deficiency of the enzyme N-acetyl-alpha-d-glucosaminidase (NAGLU), caused by biallelic pathogenic variants in the NAGLU gene, which leads to storage of heparan sulfate and a seri …
Mucopolysaccharidosis type IIIB is a rare autosomal recessive disorder characterized by deficiency of the enzyme N-acetyl-alpha-d-glucosamin …
Early-onset motor polyneuropathy associated with a novel dominant NAGLU mutation.
Lopergolo D, Salvatore S, Sorrentino V, Malandrini A, Santorelli FM, Battisti C. Lopergolo D, et al. Neurol Sci. 2023 Apr;44(4):1415-1418. doi: 10.1007/s10072-023-06607-0. Epub 2023 Jan 17. Neurol Sci. 2023. PMID: 36648562
INTRODUCTION: NAGLU encodes N-acetyl-alpha-glucosaminidase, an enzyme that degrades heparan sulfate. ...However, to date, only one family with a dominant NAGLU-related neuropathy has been described. CASE REPORT: Here we describe a patient …
INTRODUCTION: NAGLU encodes N-acetyl-alpha-glucosaminidase, an enzyme that degrades heparan sulfate. ...H …
Cell-Mediated Immunity to NAGLU Transgene Following Intracerebral Gene Therapy in Children With Mucopolysaccharidosis Type IIIB Syndrome.
Gougeon ML, Poirier-Beaudouin B, Ausseil J, Zérah M, Artaud C, Heard JM, Deiva K, Tardieu M. Gougeon ML, et al. Front Immunol. 2021 May 10;12:655478. doi: 10.3389/fimmu.2021.655478. eCollection 2021. Front Immunol. 2021. PMID: 34040605 Free PMC article.
Mucopolysaccharidosis type IIIB syndrome (Sanfilippo disease) is a rare autosomic recessif disorder caused by mutations in the alpha-N-acetylglucosaminidase (NAGLU) gene coding for a lysosomal enzyme, leading to neurodegeneration and progressive deteri …
Mucopolysaccharidosis type IIIB syndrome (Sanfilippo disease) is a rare autosomic recessif disorder caused by mutations in the alpha- …
Schizophreniform presentation and abrupt neurologic decline in a patient with late-onset mucopolysaccharidosis type IIIB.
Montenegro YHA, Baldo G, Giugliani R, Poswar FO, Sobrinho RPO, Steiner CE. Montenegro YHA, et al. Psychiatr Genet. 2021 Oct 1;31(5):199-204. doi: 10.1097/YPG.0000000000000294. Psychiatr Genet. 2021. PMID: 34347683 Review.
Laboratory tests indicated high levels of urinary glycosaminoglycans and almost undetectable NAGLU activity, confirming the diagnosis. Sequencing of the NAGLU gene revealed the c.1318G>C (p.Gly440Arg) and c.1834A>G (p.Ser612Gly) mutations....
Laboratory tests indicated high levels of urinary glycosaminoglycans and almost undetectable NAGLU activity, confirming the diagnosis …
Gene expression in the striatum of cynomolgus monkeys after chronic administration of cocaine and heroin.
Choi MR, Jin YB, Kim HN, Chai YG, Im CN, Lee SR, Kim DJ. Choi MR, et al. Basic Clin Pharmacol Toxicol. 2021 May;128(5):686-698. doi: 10.1111/bcpt.13554. Epub 2021 Jan 19. Basic Clin Pharmacol Toxicol. 2021. PMID: 33404192 Free article.
Functional annotation analysis indicated that genes associated with nervous system development (NAGLU, MOBP and TTL7) and stress granule disassembly (KIF5B and KLC1) were differentially expressed in the cocaine-treated group compared to the control group, whereas gene asso …
Functional annotation analysis indicated that genes associated with nervous system development (NAGLU, MOBP and TTL7) and stress gran …
Induced pluripotent stem cell line (SDQLCHi041-A) from a male patient with mucopolysaccharidosis type IIIB.
Guan J, Tian G, Dong R, Zhang H, Yang X, Li Y, Gai Z, Liu Y. Guan J, et al. Stem Cell Res. 2021 Apr;52:102212. doi: 10.1016/j.scr.2021.102212. Epub 2021 Jan 29. Stem Cell Res. 2021. PMID: 33550137 Free article.
Mucopolysaccharidosis type IIIB (MPS IIIB) is an autosomal recessive metabolic disorder caused by mutations in NAGLU gene, and characterized by progressive cognitive decline and behavioral difficulties and motor function retardation. A human induced pluripotent stem cell l …
Mucopolysaccharidosis type IIIB (MPS IIIB) is an autosomal recessive metabolic disorder caused by mutations in NAGLU gene, and charac …
Transcriptomic signatures in peripheral CD4+T-lymphocytes may reflect melanoma staging and immunotherapy responsiveness prior to ICI initiation.
Palli E, Lavigne M, Verginis P, Alissafi T, Anastasopoulou A, Lyrarakis G, Kirkwood JM, Gogas H, Ziogas DC. Palli E, et al. Front Immunol. 2025 Mar 28;16:1529707. doi: 10.3389/fimmu.2025.1529707. eCollection 2025. Front Immunol. 2025. PMID: 40226614 Free PMC article.
For metastatic cases: inflammatory response(logp-value=-9.2:ADGRE5/2,CYBA,GRN,HMOX1,IRF5,ITGAM), adaptive immunity(logp-value=-7.7:CD1C,CD74,CYBB,NCF2,CTSA,S100A8/9,BCL3,FCER1G), T-cell activation(logp-value=-6.3:BCL3,CD1C,CD74,FCER1G,FGL2)and lipid metabolism/catabolism(logp-val …
For metastatic cases: inflammatory response(logp-value=-9.2:ADGRE5/2,CYBA,GRN,HMOX1,IRF5,ITGAM), adaptive immunity(logp-value=-7.7:CD1C,CD74 …
Untypically mild phenotype of a patient suffering from Sanfilippo syndrome B with the c.638C>T/c.889C>T (p.Pro213Leu/p.Arg297Ter) mutations in the NAGLU gene.
Pierzynowska K, Mański A, Limanówka M, Wierzba J, Gaffke L, Anikiej P, Węgrzyn G. Pierzynowska K, et al. Mol Genet Genomic Med. 2020 Sep;8(9):e1356. doi: 10.1002/mgg3.1356. Epub 2020 Jun 24. Mol Genet Genomic Med. 2020. PMID: 32578945 Free PMC article.
Biochemical analyses included glycosaminoglycan level determination and measurement of alpha-N-acetylglucosaminidase activity. Molecular analyses included exome sequencing and detailed analysis of the NAGLU gene. ...The patient is a compound heterozygo …
Biochemical analyses included glycosaminoglycan level determination and measurement of alpha-N-acetylglucosaminidase ac …
20 results