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Select item 115735761.

Engineering memory T cells as a platform for long-term enzyme replacement therapy in lysosomal storage disorders

Evan W. Kleinboehl, Kanut Laoharawee, Jacob D. Jensen, Joseph J. Peterson, Nicholas J. Slipek, Bryce J. Wick, Matthew J. Johnson, Beau R. Webber, Branden S. Moriarity

Mol Ther. 2024 Nov 6; 32(11): 3865–3878. Published online 2024 Oct 4. doi: 10.1016/j.ymthe.2024.09.033

PMCID:: PMC11573576

Abstract Article PDF–3.0M

Select item 115335052.

Early structural valve deterioration following transcatheter aortic valve implantation in a patient with Scheie syndrome: a case report

Yusuke Yanagino, Satoshi Kainuma, Koichi Toda, Ai Kawamura, Takuji Kawamura, Daisuke Yoshioka, Masaki Taira, Kazuo Shimamura, Shigeru Miyagawa

Gen Thorac Cardiovasc Surg Cases. 2024; 3: 46. Published online 2024 Oct 21. doi: 10.1186/s44215-024-00170-6

PMCID:: PMC11533505

Abstract Article PDF–1.2M

Select item 114711813.

Intracranial tumor in a patient with mucopolysaccharidosis type 1 (Scheie syndrome): An extremely rare combination

Sandhaya Kukreja, Atiqa Imtiaz Soomro, Sapna Lohana, Asifa Kalwar, Sidhant Ochani, Rachna, Md Al Hasibuzzaman

Heliyon. 2024 Oct 15; 10(19): e38652. Published online 2024 Sep 27. doi: 10.1016/j.heliyon.2024.e38652

PMCID:: PMC11471181

Abstract Article PDF–12M

Select item 114628114.

Mucopolysaccharidosis type I: founder effect of the p.P533R mutation in North Africa

Latifa Chkioua, Houda El Fissi, Yessine Amri, Chayma Sahli, Fadoua Bouzid, Hela Boudabous, Neji Tbib, Salima Ferchichi, Taieb Massoud, Najat Alif, Sandrine Laradi, Hassen Ben Abdennebi

BMC Genomics. 2024; 25: 948. Published online 2024 Oct 9. doi: 10.1186/s12864-024-10724-1

PMCID:: PMC11462811

Abstract Article PDF–1.1M

Select item 113180275.

Whole paternal uniparental disomy of chromosome 4 with a novel homozygous IDUA splicing variant, c.159‐9T>A, in a Chinese patient with mucopolysaccharidosis type I

Lulu Yan, Shuxia Ding, Yan He, Bin Fu, Changshui Chen, Haibo Li

Mol Genet Genomic Med. 2024 Aug; 12(8): e2507. Published online 2024 Aug 12. doi: 10.1002/mgg3.2507

PMCID:: PMC11318027

Abstract Article PDF–5.3M

Select item 111046096.

Discovery of allosteric regulators with clinical potential to stabilize alpha-L-iduronidase in mucopolysaccharidosis type I

Elena Cubero, Ana Ruano, Aida Delgado, Xavier Barril, Sara Morales, Ana Trapero, Lorenzo Leoni, Manolo Bellotto, Roberto Maj, Beatriz Calvo-Flores Guzmán, Natalia Pérez-Carmona, Ana Maria Garcia-Collazo

PLoS One. 2024; 19(5): e0303789. Published online 2024 May 20. doi: 10.1371/journal.pone.0303789

PMCID:: PMC11104609

Abstract Article PDF–1.9M

Select item 111017597.

Inhibitors of dermatan sulfate epimerase 1 decreased accumulation of glycosaminoglycans in mucopolysaccharidosis type I fibroblasts

Marco Maccarana, Binjie Li, Honglian Li, Jianping Fang, Mingjia Yu, Jin-ping Li

Glycobiology. 2024 Jun; 34(6): cwae025. Published online 2024 May 17. doi: 10.1093/glycob/cwae025

PMCID:: PMC11101759

Abstract Article PDF–1.7M

Select item 109725928.

Modeling skeletal dysplasia in Hurler syndrome using patient-derived bone marrow osteoprogenitor cells

Samantha Donsante, Alice Pievani, Biagio Palmisano, Melissa Finamore, Grazia Fazio, Alessandro Corsi, Andrea Biondi, Shunji Tomatsu, Rocco Piazza, Marta Serafini, Mara Riminucci

JCI Insight. 2024 Mar 8; 9(5): e173449. Published online 2024 Mar 8. doi: 10.1172/jci.insight.173449

PMCID:: PMC10972592

Abstract Article PDF–7.3M

Select item 108346489.

Evaluation of etanercept (a tumor necrosis factor alpha inhibitor) as an effective treatment for joint disease in mucopolysaccharidosis type I. A case report with whole-body magnetic resonance imaging

Natalia V. Buchinskaya, Eugenia A. Isupova, Anastasia O. Vechkasova, Damir A. Malekov, Dmitry O. Ivanov, Mikhail M. Kostik

Front Med (Lausanne) 2023; 10: 1252704. Published online 2024 Jan 19. doi: 10.3389/fmed.2023.1252704

PMCID:: PMC10834648

Abstract Article PDF–379K

Select item 1078340710.

Mucopolysaccharidosis type I Hurler-Scheie syndrome: a case report

Samit Lamichhane, Aashish Sapkota, Sanjiv Sapkota, Nishob Adhikari, Shishir Aryal, Pradeep Adhikari

Ann Med Surg (Lond) 2024 Jan; 86(1): 588–593. Published online 2023 Nov 27. doi: 10.1097/MS9.0000000000001557

PMCID:: PMC10783407

Abstract Article PDF–694K

Select item 1059135511.

Utilizing AAV-mediated LEAPER 2.0 for programmable RNA editing in non-human primates and nonsense mutation correction in humanized Hurler syndrome mice

Zongyi Yi, Yanxia Zhao, Zexuan Yi, Yongjian Zhang, Gangbin Tang, Xiaoxue Zhang, Huixian Tang, Wei Zhang, Ying Zhao, Huayuan Xu, Yuyang Nie, Xueqing Sun, Lijun Xing, Lian Dai, Pengfei Yuan, Wensheng Wei

Genome Biol. 2023; 24: 243. Published online 2023 Oct 23. doi: 10.1186/s13059-023-03086-6

PMCID:: PMC10591355

Abstract Article PDF–3.6M

Select item 1040426012.

Mapping brain networks in MPS I mice and their restoration following gene therapy

Wei Zhu, Li Ou, Lin Zhang, Isaac H. Clark, Ying Zhang, Xiao-Hong Zhu, Chester B. Whitley, Perry B. Hackett, Walter C. Low, Wei Chen

Sci Rep. 2023; 13: 12716. Published online 2023 Aug 5. doi: 10.1038/s41598-023-39939-0

PMCID:: PMC10404260

Abstract Article PDF–2.4M

Select item 1022820613.

Mucopolysaccharidosis III: Molecular basis and treatment

Lidvana Spahiu, Emir Behluli, Borut Peterlin, Hilada Nefic, Rifat Hadziselimovic, Thomas Liehr, Gazmend Temaj

Pediatr Endocrinol Diabetes Metab. 2021 Sep; 27(3): 199–208. Published online 2021 Sep 30. doi: 10.5114/pedm.2021.109270

PMCID:: PMC10228206

Abstract Article PDF–1.4M

Select item 1018557114.

A novel mucopolysaccharidosis type II mouse model with an iduronate-2-sulfatase-P88L mutation

Ryuichi Mashima, Mari Ohira, Torayuki Okuyama, Masafumi Onodera, Shuji Takada

Sci Rep. 2023; 13: 7865. Published online 2023 May 15. doi: 10.1038/s41598-023-34541-w

PMCID:: PMC10185571

Abstract Article PDF–1.4M

Select item 1013670815.

Mucopolysaccharidosis Type I in Mexico: Case-Based Review

Consuelo Cantú-Reyna, Diana Laura Vazquez-Cantu, Héctor Cruz-Camino, Yuriria Arlette Narváez-Díaz, Óscar Flores-Caloca, Óscar González-Llano, Carolina Araiza-Lozano, René Gómez-Gutiérrez

Children (Basel) 2023 Apr; 10(4): 642. Published online 2023 Mar 30. doi: 10.3390/children10040642

PMCID:: PMC10136708

Abstract Article PDF–1.2M

Select item 1006643016.

Medium-term outcome of transcatheter aortic valve replacement in mucopolysaccharidosis type I-HS (Hurler-Scheie syndrome)

Yoichi Sugiyama, Hirokazu Miyashita, Mika Laine

J Cardiol Cases. 2023 Apr; 27(4): 196–198. Published online 2023 Jan 7. doi: 10.1016/j.jccase.2022.12.015

PMCID:: PMC10066430

Abstract Article PDF–610K

Select item 1002407117.

Neurologic Recovery in MPS I and MPS II Mice by AAV9-Mediated Gene Transfer to the CNS After the Development of Cognitive Dysfunction

Kelly M. Podetz-Pedersen, Kanut Laoharawee, Sajya Singh, Tam T. Nguyen, Miles C. Smith, Alexa Temme, Karen Kozarsky, R. Scott McIvor, Lalitha R. Belur

Hum Gene Ther. January 2023; 34(1-2): 8–18. Published online 2023 Jan 17. doi: 10.1089/hum.2022.162

PMCID:: PMC10024071

Abstract Article PDF–671K

Select item 1000343718.

Triamterene Functions as an Effective Nonsense Suppression Agent for MPS I-H (Hurler Syndrome)

Amna Siddiqui, Halil Dundar, Jyoti Sharma, Aneta Kaczmarczyk, Josh Echols, Yanying Dai, Chuanxi Richard Sun, Ming Du, Zhong Liu, Rui Zhao, Tim Wood, Shalisa Sanders, Lynn Rasmussen, James Robert Bostwick, Corinne Augelli-Szafran, Mark Suto, Steven M. Rowe, David M. Bedwell, Kim M. Keeling

Int J Mol Sci. 2023 Mar; 24(5): 4521. Published online 2023 Feb 24. doi: 10.3390/ijms24054521