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Select item 115736171.

Anti-amyloid treatment is broadly effective in neuronopathic mucopolysaccharidoses and synergizes with gene therapy in MPS-IIIA

Marianna Giaccio, Antonio Monaco, Laura Galiano, Andrea Parente, Luigi Borzacchiello, Riccardo Rubino, Frank-Gerrit Klärner, Dennis Killa, Claudia Perna, Pasquale Piccolo, Marcello Marotta, Xuefang Pan, Marie Khijniak, Ibrar Siddique, Thomas Schrader, Alexey V. Pshezhetsky, Nicolina Cristina Sorrentino, Gal Bitan, Alessandro Fraldi

Mol Ther. 2024 Nov 6; 32(11): 4108–4121. Published online 2024 Sep 28. doi: 10.1016/j.ymthe.2024.09.030

PMCID:: PMC11573617

Article PDF–4.4M

Select item 114510202.

Different diseases, different needs: Patient preferences for gene therapy in lysosomal storage disorders, a probabilistic threshold technique survey

Eleonore M. Corazolla, Eline C. B. Eskes, Jorien Veldwijk, Marion M. M. G. Brands, Hanka Dekker, Erica van de Mheen, Mirjam Langeveld, Carla E. M. Hollak, Barbara Sjouke

Orphanet J Rare Dis. 2024; 19: 367. Published online 2024 Oct 3. doi: 10.1186/s13023-024-03371-y

PMCID:: PMC11451020

Article PDF–1.7M

Select item 113544873.

The Role of the Gut Microbiota in Sanfilippo Syndrome’s Physiopathology: An Approach in Two Affected Siblings

Raquel Barbero-Herranz, María Garriga-García, Ana Moreno-Blanco, Esther Palacios, Pedro Ruiz-Sala, Saioa Vicente-Santamaría, Sinziana Stanescu, Amaya Belanger-Quintana, Guillem Pintos-Morell, Beatriz Arconada, Rosa del Campo, José Avendaño-Ortiz

Int J Mol Sci. 2024 Aug; 25(16): 8856. Published online 2024 Aug 14. doi: 10.3390/ijms25168856

PMCID:: PMC11354487

Article PDF–1.6M

Select item 113156784.

Evaluation of neuroretina following i.v. or intra‐CSF AAV9 gene replacement in mice with MPS IIIA, a childhood dementia

Helen Beard, Leanne Winner, Andrew Shoubridge, Emma Parkinson‐Lawrence, Adeline A. Lau, Siti N. Mubarokah, Tabitha‐Rose Lance, Barbara King, William Scott, Marten F. Snel, Paul J. Trim, Kim M. Hemsley

CNS Neurosci Ther. 2024 Aug; 30(8): e14919. Published online 2024 Aug 9. doi: 10.1111/cns.14919

PMCID:: PMC11315678

Article PDF–6.0M

Select item 112816165.

Role of Botulinum Toxin in Treatment of Secondary Dystonia: A Case Series and Overview of Literature

Diksha Mohanty, Heather R. M. Riordan, Peter Hedera

Toxins (Basel) 2024 Jul; 16(7): 286. Published online 2024 Jun 24. doi: 10.3390/toxins16070286

PMCID:: PMC11281616

Article PDF–250K

Select item 112221666.

AAV gene replacement therapy for treating MPS IIIC: Facilitating bystander effects via EV‐mRNA cargo

Tierra A. Bobo, Michael Robinson, Christopher Tofade, Marina Sokolski‐Papkov, Peter Nichols, Stephen Vorobiov, Haiyan Fu

J Extracell Vesicles. 2024 Jul; 13(7): e12464. Published online 2024 Jul 3. doi: 10.1002/jev2.12464

PMCID:: PMC11222166

Article PDF–852K

Select item 111996447.

Structural and mechanistic insights into a lysosomal membrane enzyme HGSNAT involved in Sanfilippo syndrome

Boyang Zhao, Zhongzheng Cao, Yi Zheng, Phuong Nguyen, Alisa Bowen, Robert H. Edwards, Robert M. Stroud, Yi Zhou, Menno Van Lookeren Campagne, Fei Li

Nat Commun. 2024; 15: 5388. Published online 2024 Jun 25. doi: 10.1038/s41467-024-49614-1

PMCID:: PMC11199644

Article PDF–2.2M

Select item 111499698.

Clinical and Molecular Characterization of Mucopolysaccharidosis Type 3A and 3B in a Turkish Series

Bilge Noyan, Nursel H. Elcioglu, Abdellah Tebani, Soumeya Bekri

Mol Syndromol. 2024 Jun; 15(3): 194–201. Published online 2024 Jan 16. doi: 10.1159/000535888

PMCID:: PMC11149969

Article PDF–428K

Select item 111301889.

Novel gene-specific Bayesian Gaussian mixture model to predict the missense variants pathogenicity of Sanfilippo syndrome

Eman E. A. Mohammed, Alaaeldin G. Fayez, Nabil M. Abdelfattah, Ekram Fateen

Sci Rep. 2024; 14: 12148. Published online 2024 May 27. doi: 10.1038/s41598-024-62352-0

PMCID:: PMC11130188

Article PDF–1.7M

Select item 1112011010.

Heterologous HSPC Transplantation Rescues Neuroinflammation and Ameliorates Peripheral Manifestations in the Mouse Model of Lysosomal Transmembrane Enzyme Deficiency, MPS IIIC

Xuefang Pan, Antoine Caillon, Shuxian Fan, Shaukat Khan, Shunji Tomatsu, Alexey V. Pshezhetsky

Cells. 2024 May; 13(10): 877. Published online 2024 May 20. doi: 10.3390/cells13100877

PMCID:: PMC11120110

Article PDF–4.5M

Select item 1106495111.

Historia natural de la mucopolisacaridosis III en una serie de pacientes colombianos

Lissete Cabarcas, Jorge L. Ramón, Eugenia Espinosa, Graciela del Pilar Guerrero, Natalia Martínez, Natalia Santamaría, Isabella Lince, Stefanie Reyes

Rev Neurol. 2024; 78(6): 171–177. Spanish. Published online 2024 Mar 16. doi: 10.33588/rn.7806.2023281

PMCID:: PMC11064951

Article PDF–800K

Select item 1102236012.

Characterization of early markers of disease in the mouse model of mucopolysaccharidosis IIIB

Katherine B. McCullough, Amanda Titus, Kate Reardon, Sara Conyers, Joseph D. Dougherty, Xia Ge, Joel R. Garbow, Patricia Dickson, Carla M. Yuede, Susan E. Maloney

J Neurodev Disord. 2024; 16: 16. Published online 2024 Apr 17. doi: 10.1186/s11689-024-09534-z

PMCID:: PMC11022360

Article PDF–2.5M

Select item 1101539213.

Identification and characterization of novel genetic variants in the first Chinese family of mucopolysaccharidosis IIIC (Sanfilippo C syndrome)

Hongjun Zhao, Lijing Wang, Mengfei Zhang, Huakun Wang, Sizhe Zhang, Junjiao Wu, Yu Tang

J Cell Mol Med. 2024 Apr; 28(8): e18307. Published online 2024 Apr 13. doi: 10.1111/jcmm.18307

PMCID:: PMC11015392

Article PDF–7.2M

Select item 1100376014.

The significance of triple-capsid-mutant AAV8 for treatment of Sanfilippo Syndrome Type B

Frederick Ashby, Coy Heldermon

Arch Stem Cell Ther. Author manuscript; available in PMC 2024 Apr 9.

Published in final edited form as: Arch Stem Cell Ther. 2022; 3(1): 11–17. doi: 10.46439/stemcell.3.013

PMCID:: PMC11003760

Article PDF–569K

Select item 1094172815.

Disease progression in Sanfilippo type B: Case series of Brazilian patients

Yorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp, Mariluce Riegel-Giugliani, Carolina Fischinger Moura de Souza, Erlane Marques Ribeiro, Charles Marques Lourenço, Augusto César Cardoso-dos-Santos, Márcia Gonçalves Ribeiro, Chong Ae Kim, Matheus Augusto Araújo Castro, Emília Katiane Embiruçu, Carlos Eduardo Steiner, Filippo Pinto e Vairo, Guilherme Baldo, Roberto Giugliani, Fabiano de Oliveira Poswar

Genet Mol Biol. 2024; 47(1): e20230285. Published online 2024 Mar 8. doi: 10.1590/1678-4685-GMB-2023-0285

PMCID:: PMC10941728

Article PDF–455K

Select item 1087439116.

Evidence of epigenetic landscape shifts in mucopolysaccharidosis IIIB and IVA

Viviana Vargas-López, Luisa F. Prada, Carlos J. Alméciga-Díaz

Sci Rep. 2024; 14: 3961. Published online 2024 Feb 17. doi: 10.1038/s41598-024-54626-4

PMCID:: PMC10874391

Article PDF–1.4M

Select item 1086480717.

Metabolic rewiring and autophagy inhibition correct lysosomal storage disease in mucopolysaccharidosis IIIB

Melania Scarcella, Gianluca Scerra, Mariangela Ciampa, Marianna Caterino, Michele Costanzo, Laura Rinaldi, Antonio Feliciello, Serenella Anzilotti, Chiara Fiorentino, Maurizio Renna, Margherita Ruoppolo, Luigi Michele Pavone, Massimo D’Agostino, Valeria De Pasquale

iScience. 2024 Mar 15; 27(3): 108959. Published online 2024 Jan 29. doi: 10.1016/j.isci.2024.108959

PMCID:: PMC10864807

Article PDF–7.3M

Select item 1082645618.

Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II

Joseph Muenzer, Barbara K. Burton, Paul Harmatz, Luis González Gutiérrez-Solana, Matilde Ruiz-Garcia, Simon A. Jones, Nathalie Guffon, Michal Inbar-Feigenberg, Drago Bratkovic, Michael Hale, Yuna Wu, Karen S. Yee, David A.H. Whiteman, David Alexanderian

Mol Genet Metab. Author manuscript; available in PMC 2024 Jan 30.

Published in final edited form as: Mol Genet Metab. 2022 Sep-Oct; 137(1-2): 92–103. Published online 2022 Aug 2. doi: 10.1016/j.ymgme.2022.07.016

Correction in:: Mol Genet Metab. 2023 Jul 28 : 107646.

PMCID:: PMC10826456

Article PDF–1.1M

Select item 1082642419.

Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study

Mol Genet Metab. Author manuscript; available in PMC 2024 Jan 30.

Published in final edited form as: Mol Genet Metab. 2022 Sep-Oct; 137(1-2): 127–139. Published online 2022 Aug 2. doi: 10.1016/j.ymgme.2022.07.017

Correction in:: Mol Genet Metab. 2023 Aug 3 : 107645.

PMCID:: PMC10826424

Article PDF–874K

Select item 1063822920.

Biochemical diagnosis of Sanfilippo disorder types A and B

Soha S. Nosier, Seham M. S. El Nakeeb, Mona M. Ibrahim, Mona El-Gammal, Ekram M. Fateen

J Genet Eng Biotechnol. 2023 Dec; 21: 112. Published online 2023 Nov 10. doi: 10.1186/s43141-023-00586-7

PMCID:: PMC10638229

Article PDF–1.4M

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