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Select item 84100351.

Early defects in mucopolysaccharidosis type IIIC disrupt excitatory synaptic transmission

Camila Pará, Poulomee Bose, Luigi Bruno, Erika Freemantle, Mahsa Taherzadeh, Xuefang Pan, Chanshuai Han, Peter S. McPherson, Jean-Claude Lacaille, Éric Bonneil, Pierre Thibault, Claire O’Leary, Brian Bigger, Carlos Ramon Morales, Graziella Di Cristo, Alexey V. Pshezhetsky

JCI Insight. 2021 Aug 9; 6(15): e142073. Published online 2021 Aug 9. doi: 10.1172/jci.insight.142073

PMCID:: PMC8410035

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Select item 82806742.

Facile Synthesis of MPS₃/C (M = Ni and Sn) Hybrid Materials and Their Application in Lithium-Ion Batteries

Xianyu Liu, Tayyaba Najam, Ghulam Yasin, Mohan Kumar, Miao Wang

ACS Omega. 2021 Jul 13; 6(27): 17247–17254. Published online 2021 Jun 29. doi: 10.1021/acsomega.1c01042

PMCID:: PMC8280674

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Select item 81253303.

A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis

Elena R. Schiff, Malena Daich Varela, Anthony G. Robson, Karen Pierpoint, Rola Ba‐Abbad, Savita Nutan, Wadih M. Zein, Ehsan Ullah, Laryssa A. Huryn, Sari Tuupanen, Omar A. Mahroo, Michel Michaelides, Derek Burke, Katie Harvey, Gavin Arno, Robert B. Hufnagel, Andrew R. Webster

Am J Med Genet C Semin Med Genet. 2020 Sep; 184(3): 631–643. Published online 2020 Aug 7. doi: 10.1002/ajmg.c.31822

PMCID:: PMC8125330

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Select item 71413234.

Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development

Noelia Benetó, Monica Cozar, Laura Castilla-Vallmanya, Oskar G. Zetterdahl, Madalina Sacultanu, Eulalia Segur-Bailach, María García-Morant, Antonia Ribes, Henrik Ahlenius, Daniel Grinberg, Lluïsa Vilageliu, Isaac Canals

J Clin Med. 2020 Mar; 9(3): 644. Published online 2020 Feb 28. doi: 10.3390/jcm9030644

PMCID:: PMC7141323

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Select item 52559495.

Klüver–Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)

Hao Hu, Christoph Hübner, Zoltan Lukacs, Luciana Musante, Esther Gill, Thomas F Wienker, Hans-Hilger Ropers, Ellen Knierim, Markus Schuelke

Eur J Hum Genet. 2017 Feb; 25(2): 253–256. Published online 2016 Nov 9. doi: 10.1038/ejhg.2016.149

PMCID:: PMC5255949

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Select item 46250336.

Activity and High-Order Effective Connectivity Alterations in Sanfilippo C Patient-Specific Neuronal Networks

Isaac Canals, Jordi Soriano, Javier G. Orlandi, Roger Torrent, Yvonne Richaud-Patin, Senda Jiménez-Delgado, Simone Merlin, Antonia Follenzi, Antonella Consiglio, Lluïsa Vilageliu, Daniel Grinberg, Angel Raya

Stem Cell Reports. 2015 Oct 13; 5(4): 546–557. Published online 2015 Sep 24. doi: 10.1016/j.stemcr.2015.08.016

PMCID:: PMC4625033

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Select item 45618827.

EXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndrome

Isaac Canals, Noelia Benetó, Mónica Cozar, Lluïsa Vilageliu, Daniel Grinberg

Sci Rep. 2015; 5: 13654. Published online 2015 Sep 8. doi: 10.1038/srep13654

PMCID:: PMC4561882

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Select item 44593928.

Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)

Lonneke Haer-Wigman, Hadas Newman, Rina Leibu, Nathalie M. Bax, Hagit N Baris, Leah Rizel, Eyal Banin, Amir Massarweh, Susanne Roosing, Dirk J. Lefeber, Marijke N. Zonneveld-Vrieling, Ofer Isakov, Noam Shomron, Dror Sharon, Anneke I. Den Hollander, Carel B. Hoyng, Frans P.M. Cremers, Tamar Ben-Yosef

Hum Mol Genet. 2015 Jul 1; 24(13): 3742–3751. Published online 2015 Apr 9. doi: 10.1093/hmg/ddv118

PMCID:: PMC4459392

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Select item 42798009.

Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations

Liliana Matos, Isaac Canals, Larbi Dridi, Yoo Choi, Maria João Prata, Peter Jordan, Lourdes R Desviat, Belén Pérez, Alexey V Pshezhetsky, Daniel Grinberg, Sandra Alves, Lluïsa Vilageliu

Orphanet J Rare Dis. 2014; 9: 180. Published online 2014 Dec 10. doi: 10.1186/s13023-014-0180-y

PMCID:: PMC4279800

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Select item 353520110.

The First Korean Case of Mucopolysaccharidosis IIIC (Sanfilippo Syndrome Type C) Confirmed by Biochemical and Molecular Investigation

Hee Jae Huh, Ja Young Seo, Sung Yoon Cho, Chang-Seok Ki, Soo-Youn Lee, Jong-Won Kim, Hyung-Doo Park, Dong-Kyu Jin

Ann Lab Med. 2013 Jan; 33(1): 75–79. Published online 2012 Dec 17. doi: 10.3343/alm.2013.33.1.75

PMCID:: PMC3535201

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Select item 169855611.

Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)

Martin Hřebíček, Lenka Mrázová, Volkan Seyrantepe, Stéphanie Durand, Nicole M. Roslin, Lenka Nosková, Hana Hartmannová, Robert Ivánek, Alena Čížková, Helena Poupětová, Jakub Sikora, Jana Uřinovská, Viktor Stránecký, Jiří Zeman, Pierre Lepage, David Roquis, Andrei Verner, Jérôme Ausseil, Clare E. Beesley, Irène Maire, Ben J. H. M. Poorthuis, Jiddeke van de Kamp, Otto P. van Diggelen, Ron A. Wevers, Thomas J. Hudson, T. Mary Fujiwara, Jacek Majewski, Kenneth Morgan, Stanislav Kmoch, Alexey V. Pshezhetsky

Am J Hum Genet. 2006 Nov; 79(5): 807–819. Published online 2006 Sep 8. doi: 10.1086/508294

PMCID:: PMC1698556

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Select item 33629012.

Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts.

U Klein, H Kresse, K von Figura

Proc Natl Acad Sci U S A. 1978 Oct; 75(10): 5185–5189. doi: 10.1073/pnas.75.10.5185

PMCID:: PMC336290

Summary Page Browse PDF–921K Cite

Select item 948238613.

Adults with lysosomal storage diseases in the undiagnosed diseases network

Changrui Xiao, Mary Koziura, Heidi Cope, Rebecca Spillman, Khoon Tan, Fuki M. Hisama, Cynthia J. Tifft, Camilo Toro

Mol Genet Genomic Med. 2022 Sep; 10(9): e2013. Published online 2022 Jul 18. doi: 10.1002/mgg3.2013

PMCID:: PMC9482386

Article PubReader PDF–998K Cite

Select item 920447214.

Glucosamine amends CNS pathology in mucopolysaccharidosis IIIC mouse expressing misfolded HGSNAT

Xuefang Pan, Mahsa Taherzadeh, Poulomee Bose, Rachel Heon-Roberts, Annie L.A. Nguyen, TianMeng Xu, Camila Pará, Yojiro Yamanaka, David A. Priestman, Frances M. Platt, Shaukat Khan, Nidhi Fnu, Shunji Tomatsu, Carlos R. Morales, Alexey V. Pshezhetsky

J Exp Med. 2022 Aug 1; 219(8): e20211860. Published online 2022 Jun 15. doi: 10.1084/jem.20211860

PMCID:: PMC9204472

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Select item 504768315.

Progressive neurologic and somatic disease in a novel mouse model of human mucopolysaccharidosis type IIIC

Sara Marcó, Anna Pujol, Carles Roca, Sandra Motas, Albert Ribera, Miguel Garcia, Maria Molas, Pilar Villacampa, Cristian S. Melia, Víctor Sánchez, Xavier Sánchez, Joan Bertolin, Jesús Ruberte, Virginia Haurigot, Fatima Bosch

Dis Model Mech. 2016 Sep 1; 9(9): 999–1013. doi: 10.1242/dmm.025171

PMCID:: PMC5047683

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Select item 454561016.

Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases

Marta Gómez-Grau, Elena Garrido, Mónica Cozar, Víctor Rodriguez-Sureda, Carmen Domínguez, Concepción Arenas, Richard A. Gatti, Bru Cormand, Daniel Grinberg, Lluïsa Vilageliu

PLoS One. 2015; 10(8): e0135873. Published online 2015 Aug 19. doi: 10.1371/journal.pone.0135873