PMC Articles for MedGen (Select 88601) - PMC

Courtney J Rouse, Kimberley Hawkins, Nadia Kabbej, Justin Dalugdug, Aishwarya Kunta, Mi-Jung Kim, Shinichi Someya, Zachary Herbst, Michael Gelb, Isabella Dinelli, Elizabeth Butterworth, Darin J Falk, Erinn Rosenkrantz, Hamza Elmohd, Hamid Khaledi, Samar Mowafy, Frederick Ashby, Coy D Heldermon

Hum Mol Genet. 2023 Feb 1; 32(3): 417–430. Published online 2022 Aug 23. doi: 10.1093/hmg/ddac209

PMCID:: PMC9851742

Abstract Article PDF–1.7M

Select item 98430524.

A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B

Nicole Muschol, Anja Koehn, Katharina von Cossel, Ilyas Okur, Fatih Ezgu, Paul Harmatz, Maria J. de Castro Lopez, Maria Luz Couce, Shuan-Pei Lin, Spyros Batzios, Maureen Cleary, Martha Solano, Igor Nestrasil, Brian Kaufman, Adam J. Shaywitz, Stephen M. Maricich, Bernice Kuca, Joseph Kovalchin, Eric Zanelli

J Clin Invest. 2023 Jan 17; 133(2): e165076. Published online 2023 Jan 17. doi: 10.1172/JCI165076

PMCID:: PMC9843052

Abstract Article PDF–1.1M

Select item 91402105.

Unusual Clinical Manifestations in a Mexican Patient with Sanfilippo B Syndrome

Liliana Fernández-Hernández, Miriam Erandi Reyna-Fabián, Miguel Angel Alcántara-Ortigoza, Carmen Aláez-Verson, Luis L. Flores-Lagunes, Karol Carrillo-Sánchez, Ariadna González-del Angel

Diagnostics (Basel) 2022 May; 12(5): 1268. Published online 2022 May 19. doi: 10.3390/diagnostics12051268

PMCID:: PMC9140210

Abstract Article PDF–1.2M

Select item 84404736.

Disease modeling for Mucopolysaccharidosis type IIIB using patient derived induced pluripotent stem cells

Wei Huang, Yu-Shan Cheng, Shu Yang, Manju Swaroop, Miao Xu, Wenwei Huang, Wei Zheng

Exp Cell Res. Author manuscript; available in PMC 2022 Oct 1.

Published in final edited form as: Exp Cell Res. 2021 Oct 1; 407(1): 112785. Published online 2021 Aug 16. doi: 10.1016/j.yexcr.2021.112785

PMCID:: PMC8440473

Abstract Article PDF–1.8M

Select item 81494857.

Site-specific modifications to AAV8 capsid yields enhanced brain transduction in the neonatal MPS IIIB mouse

Janine A. Gilkes, Benjamin L. Judkins, Brontie N. Herrera, Ronald J. Mandel, Sanford L. Boye, Shannon E. Boye, Arun Srivastava, Coy D. Heldermon

Gene Ther. 2021; 28(7-8): 447–455. Published online 2020 Nov 26. doi: 10.1038/s41434-020-00206-w

Correction in:: Gene Ther. 2023; 30(9): 736.

PMCID:: PMC8149485

Abstract Article PDF–2.6M

Select item 81417438.

Cell-Mediated Immunity to NAGLU Transgene Following Intracerebral Gene Therapy in Children With Mucopolysaccharidosis Type IIIB Syndrome

Marie-Lise Gougeon, Béatrice Poirier-Beaudouin, Jérome Ausseil, Michel Zérah, Cécile Artaud, Jean-Michel Heard, Kumaran Deiva, Marc Tardieu

Front Immunol. 2021; 12: 655478. Published online 2021 May 10. doi: 10.3389/fimmu.2021.655478

PMCID:: PMC8141743

Abstract Article PDF–5.2M

Select item 78539089.

Genotype to Phenotype: Identification of Mucopolysaccharidosis Type IIIB (Sanfilippo's B) Case Using Whole Exome Sequencing

Muhsin Elmas, Basak Gogus, Furkan Kılıçarslan, Aysegul Bukulmez, Mustafa Solak

J Pediatr Genet. 2021 Mar; 10(1): 74–76. Published online 2020 Mar 31. doi: 10.1055/s-0040-1708555

PMCID:: PMC7853908

Abstract Article PDF–147K

Select item 750732310.

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

Karolina Pierzynowska, Arkadiusz Mański, Monika Limanówka, Jolanta Wierzba, Lidia Gaffke, Paulina Anikiej, Grzegorz Węgrzyn

Mol Genet Genomic Med. 2020 Sep; 8(9): e1356. Published online 2020 Jun 24. doi: 10.1002/mgg3.1356

PMCID:: PMC7507323

Abstract Article PDF–634K

Select item 727562011.

Once in a Blue Moon, a Very Rare Coexistence of Glutaric Acidemia Type I and Mucopolysaccharidosis Type IIIB in a Patient

Mohammad Reza Alaei, Meghdad Kheirkhahan, Saeed Talebi, Elham Davoudi-Dehaghani, Mohammad Keramatipour

Iran Biomed J. 2020 May; 24(3): 201–205. Published online 2019 Nov 27. doi: 10.29252/ibj.24.3.201

PMCID:: PMC7275620

Abstract Article PDF–716K

Select item 661527512.

Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data

Elsa Shapiro, Charles Marques Lourenço, Neslihan Onenli Mungan, Nicole Muschol, Cara O’Neill, Suresh Vijayaraghavan

Orphanet J Rare Dis. 2019; 14: 168. Published online 2019 Jul 8. doi: 10.1186/s13023-019-1150-1

PMCID:: PMC6615275

Abstract Article PDF–1.2M

Select item 660696713.

Differential Uptake of NAGLU-IGF2 and Unmodified NAGLU in Cellular Models of Sanfilippo Syndrome Type B

Heather Prill, Amanda Luu, Bryan Yip, John Holtzinger, Melanie J. Lo, Terri M. Christianson, Gouri Yogalingam, Mika Aoyagi-Scharber, Jonathan H. LeBowitz, Brett E. Crawford, Roger Lawrence

Mol Ther Methods Clin Dev. 2019 Sep 13; 14: 56–63. Published online 2019 May 24. doi: 10.1016/j.omtm.2019.05.008

PMCID:: PMC6606967

Abstract Article PDF–1.1M

Select item 658645514.

An Uncommon Presentation of Mucopolysaccharidosis Type IIIb

Alireza REZAYI, Mohammad FESHANGCHI-BONAB, Reza TAHERIAN

Iran J Child Neurol. 2019 Summer; 13(3): 105–111.

PMCID:: PMC6586455

Abstract Article PDF–305K

Select item 655973515.

An induced pluripotent stem cell line (TRNDi006-A) from a MPS IIIB patient carrying homozygous mutation of p.Glu153Lys in the NAGLU gene

Wei Huang, Miao Xu, Rong Li, Amanda Baskfield, Jennifer Kouznetsova, Jeanette Beers, Jizhong Zou, Chengyu Liu, Wei Zheng

Stem Cell Res. Author manuscript; available in PMC 2019 Jun 11.

Published in final edited form as: Stem Cell Res. 2019 May; 37: 101427. Published online 2019 Mar 23. doi: 10.1016/j.scr.2019.101427

PMCID:: PMC6559735

Abstract Article PDF–482K

Select item 633836316.

BMN 250, a fusion of lysosomal alpha-N-acetylglucosaminidase with IGF2, exhibits different patterns of cellular uptake into critical cell types of Sanfilippo syndrome B disease pathogenesis

Gouri Yogalingam, Amanda R. Luu, Heather Prill, Melanie J. Lo, Bryan Yip, John Holtzinger, Terri Christianson, Mika Aoyagi-Scharber, Roger Lawrence, Brett E. Crawford, Jonathan H. LeBowitz

PLoS One. 2019; 14(1): e0207836. Published online 2019 Jan 18. doi: 10.1371/journal.pone.0207836

PMCID:: PMC6338363

Abstract Article PDF–2.4M

Select item 621541517.

A model of mucopolysaccharidosis type IIIB in pigs

Qiang Yang, Xueyan Zhao, Yuyun Xing, Chao Jiang, Kai Jiang, Pan Xu, Weiwei Liu, Jun Ren, Lusheng Huang

Biol Open. 2018 Oct 15; 7(10): bio035386. Published online 2018 Sep 26. doi: 10.1242/bio.035386

PMCID:: PMC6215415

Abstract Article PDF–5.5M

Select item 607636118.

Genetically Corrected iPSC-Derived Neural Stem Cell Grafts Deliver Enzyme Replacement to Affect CNS Disease in Sanfilippo B Mice

Don Clarke, Yewande Pearse, Shih-hsin Kan, Steven Q. Le, Valentina Sanghez, Jonathan D. Cooper, Patricia I. Dickson, Michelina Iacovino

Mol Ther Methods Clin Dev. 2018 Sep 21; 10: 113–127. Published online 2018 Jul 23. doi: 10.1016/j.omtm.2018.06.005

PMCID:: PMC6076361

Abstract Article PDF–3.9M

Select item 598601619.

A novel mutation in the NAGLU gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B)

Dineshani Hettiarachchi, Nilaksha Nethikumara, Bamunu Arachchi Pathiranage Sajeewani Pathirana, Kalum Weththasigha, Weerabaddana Dilshani Niluka Dissanayake, Vajira H. W. Dissanayake

Clin Case Rep. 2018 Jun; 6(6): 1051–1054. Published online 2018 Apr 14. doi: 10.1002/ccr3.1521

PMCID:: PMC5986016

Abstract Article PDF–659K

Select item 595389120.

High-Throughput Screen Fails to Identify Compounds That Enhance Residual Enzyme Activity of Mutant N-Acetyl-α-Glucosaminidase in Mucopolysaccharidosis Type IIIB

O. L. M. Meijer, P. van den Biggelaar, R. Ofman, F. A. Wijburg, N. van Vlies

JIMD Rep. 2018; 39: 97–106. Published online 2017 Aug 24. doi: 10.1007/8904_2017_51

PMCID:: PMC5953891

Abstract Article PDF–606K

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Homo sapiens semaphorin 7A (JohnMiltonHagen blood group) (SEMA7A), transcript va...
Homo sapiens semaphorin 7A (JohnMiltonHagen blood group) (SEMA7A), transcript variant 1, mRNA
gi|1519244410|ref|NM_003612.5|

Nucleotide
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dihydropyrimidinase [Bradyrhizobium diazoefficiens USDA 110]
dihydropyrimidinase [Bradyrhizobium diazoefficiens USDA 110]
gi|27378444|ref|NP_769973.1|

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