mRNA Degradation as a Therapeutic Solution for Mucopolysaccharidosis Type IIIC: Use of Antisense Oligonucleotides to Promote Downregulation of Heparan Sulfate Synthesis.

Authors: Santos, Juliana Inês^1,2,3,4 (AUTHOR) mprata@ipatimup.pt, Gonçalves, Mariana^1,2,3,5 (AUTHOR) mariana.goncalves@insa.min-saude.pt, Almeida, Matilde Barbosa^1,2,3,6 (AUTHOR) matilde.almeida@insa.min-saude.pt, Rocha, Hugo⁷ (AUTHOR) hugo.rocha@insa.min-saude.pt, Duarte, Ana Joana^1,2,3,8 (AUTHOR) ana.duarte@insa.min-saude.pt, Matos, Liliana^1,2,3 (AUTHOR) liliana.matos@insa.min-saude.pt, Moreira, Luciana Vaz^1,2,3 (AUTHOR) luciana.moreira@insa.min-saude.pt, Encarnação, Marisa^1,2,3 (AUTHOR) marisa.encarnacao@insa.min-saude.pt, Gaspar, Paulo⁷ (AUTHOR) paulo.gaspar@insa.min-saude.pt, Prata, Maria João^4,9 (AUTHOR), Coutinho, Maria Francisca^1,2,3 (AUTHOR) francisca.coutinho@insa.min-saude.pt, Alves, Sandra^1,2,3 (AUTHOR) sandra.alves@insa.min-saude.pt

Source: International Journal of Molecular Sciences. Feb2025, Vol. 26 Issue 3, p1273. 16p.

Subject Terms: *MOLECULES, *SANFILIPPO syndrome, *HEPARAN sulfate, *LYSOSOMAL storage diseases, *ANTISENSE RNA, *OLIGONUCLEOTIDES

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

Authors: Barbero-Herranz, Raquel¹ (AUTHOR) rql1898@gmail.com, Garriga-García, María² (AUTHOR) maria.garriga@salud.madrid.org, Moreno-Blanco, Ana^1,3 (AUTHOR) anamorenoblanco1993@gmail.com, Palacios, Esther¹ (AUTHOR) esthepalgo@gmail.com, Ruiz-Sala, Pedro^4,5 (AUTHOR) pedro.ruiz@inv.uam.es, Vicente-Santamaría, Saioa² (AUTHOR) saioa.vicente@salud.madrid.org, Stanescu, Sinziana⁶ (AUTHOR) sinziana.stanescu@salud.madrid.org, Belanger-Quintana, Amaya⁶ (AUTHOR) amaya.belanguer@salud.madrid.org, Pintos-Morell, Guillem⁷ (AUTHOR) guillempintos@gmail.com, Arconada, Beatriz⁸ (AUTHOR) b.arconada@enfermedades-raras.org, del Campo, Rosa^1,3,9 (AUTHOR) rosacampo@yahoo.com, Avendaño-Ortiz, José^1,3 (AUTHOR) rosacampo@yahoo.com

Source: International Journal of Molecular Sciences. Aug2024, Vol. 25 Issue 16, p8856. 15p.

Subject Terms: *SANFILIPPO syndrome, *GUT microbiome, *HEPARAN sulfate, *CONGENITAL disorders, *QUALITY of life, *BACTEROIDES fragilis

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

Authors: Beard, Helen¹ (AUTHOR), Winner, Leanne¹ (AUTHOR), Shoubridge, Andrew² (AUTHOR), Parkinson‐Lawrence, Emma³ (AUTHOR), Lau, Adeline A.¹ (AUTHOR), Mubarokah, Siti N.¹ (AUTHOR), Lance, Tabitha‐Rose¹ (AUTHOR), King, Barbara¹ (AUTHOR), Scott, William¹ (AUTHOR), Snel, Marten F.⁴ (AUTHOR), Trim, Paul J.⁴ (AUTHOR), Hemsley, Kim M.¹ (AUTHOR) kim.hemsley@flinders.edu.au

Source: CNS Neuroscience & Therapeutics. Aug2024, Vol. 30 Issue 8, p1-13. 13p.

Subject Terms: *PEDIATRIC therapy, *SANFILIPPO syndrome, *THERAPEUTICS, *BRAIN diseases, *RETINAL degeneration

An immune deficient mouse model for mucopolysaccharidosis IIIA (Sanfilippo syndrome).

Authors: Pollock, Kari¹ (AUTHOR) kmpollock@ucdavis.edu, Noritake, Sabrina¹ (AUTHOR), Imai, Denise M.² (AUTHOR), Pastenkos, Gabrielle² (AUTHOR), Olson, Marykate¹ (AUTHOR), Cary, Whitney¹ (AUTHOR), Yang, Sheng¹ (AUTHOR), Fierro, Fernando A.¹ (AUTHOR), White, Jeannine¹ (AUTHOR), Graham, Justin¹ (AUTHOR), Dahlenburg, Heather¹ (AUTHOR), Johe, Karl³ (AUTHOR), Nolta, Jan A.¹ (AUTHOR)

Source: Scientific Reports. 10/27/2023, Vol. 13 Issue 1, p1-11. 11p.

Subject Terms: *SANFILIPPO syndrome, *B cells, *LABORATORY mice, *ANIMAL disease models, *LYSOSOMAL storage diseases, *MUCOPOLYSACCHARIDOSIS

Femoral Structure and Biomechanical Characteristics in Sanfilippo Syndrome Type-B Mice.

Authors: Ashby, Frederick James¹ (AUTHOR) ricky.ashby@ufl.edu, Castillo, Evelyn J.² (AUTHOR) evelynjcastillo@ufl.edu, Ludwig, Yan¹ (AUTHOR) natalia.andraka@medicine.ufl.edu, Andraka, Natalia K.¹ (AUTHOR) juliajamieson@ufl.edu, Chen, Cong³ (AUTHOR) chenc@ortho.ufl.edu, Jamieson, Julia C.¹ (AUTHOR) nadia.kabbej@medicine.ufl.edu, Kabbej, Nadia¹ (AUTHOR) johnsommerville@ufl.edu, Sommerville, John D.¹ (AUTHOR) coy.heldermon@medicine.ufl.edu, Aguirre, Jose I.² (AUTHOR) aguirrej@ufl.edu, Heldermon, Coy D.¹ (AUTHOR)

Source: International Journal of Molecular Sciences. Sep2023, Vol. 24 Issue 18, p13988. 13p.

Subject Terms: *SANFILIPPO syndrome, *ENZYME replacement therapy, *BONE density, *CANCELLOUS bone, *COMPACT bone, *FEMUR

Company/Entity: UNITED States. Food & Drug Administration

Extracellular vesicles from microglial cells activated by abnormal heparan sulfate oligosaccharides from Sanfilippo patients impair neuronal dendritic arborization.

Authors: Dias, Chloé¹ (AUTHOR), Ballout, Nissrine¹ (AUTHOR), Morla, Guillaume¹ (AUTHOR), Alileche, Katia¹ (AUTHOR), Santiago, Christophe¹ (AUTHOR), Guerrera, Ida Chiara² (AUTHOR), Chaubet, Adeline¹ (AUTHOR), Ausseil, Jerome^1,3 (AUTHOR), Trudel, Stephanie^1,3 (AUTHOR) stephanie.trudel-ausseil@inserm.fr

Source: Molecular Medicine. 11/6/2024, Vol. 30 Issue 1, p1-26. 26p.

Subject Terms: *SANFILIPPO syndrome, *EXTRACELLULAR vesicles, *HEPARAN sulfate, *RNA sequencing, *DENDRITIC spines

Photobiomodulation in the infrared spectrum reverses the expansion of circulating natural killer cells and brain microglial activation in Sanfilippo mice.

Authors: Lau, A. A.¹ (AUTHOR), Jin, K.² (AUTHOR), Beard, H.¹ (AUTHOR), Windram, T.¹ (AUTHOR), Xie, K.^2,3 (AUTHOR), O'Brien, J. A.² (AUTHOR), Neumann, D.¹ (AUTHOR), King, B. M.¹ (AUTHOR), Snel, M. F.⁴ (AUTHOR), Trim, P. J.⁴ (AUTHOR), Mitrofanis, J.^5,6 (AUTHOR), Hemsley, K. M.¹ (AUTHOR), Austin, P. J.² (AUTHOR) paul.austin@sydney.edu.au

Source: Journal of Neurochemistry. Sep2024, Vol. 168 Issue 9, p2791-2813. 23p.

Subject Terms: *SANFILIPPO syndrome, *HEPARAN sulfate, *LYMPHOCYTE transformation, *CELL communication, *INFRARED spectra, *T cells, *KILLER cells

Unusual Clinical Manifestations in a Mexican Patient with Sanfilippo B Syndrome.

Authors: Fernández-Hernández, Liliana¹ (AUTHOR) dralilianafernandez@gmail.com, Reyna-Fabián, Miriam Erandi¹ (AUTHOR) erandif@yahoo.com, Alcántara-Ortigoza, Miguel Angel¹ (AUTHOR) malcantaraortigoza@gmail.com, Aláez-Verson, Carmen² (AUTHOR) calaez@inmegen.gob.mx, Flores-Lagunes, Luis L.² (AUTHOR) lflores@inmegen.gob.mx, Carrillo-Sánchez, Karol² (AUTHOR) kcarrillo@inmegen.gob.mx, González-del Angel, Ariadna¹ (AUTHOR) ariadnagonzalezdelangel@gmail.com

Source: Diagnostics (2075-4418). May2022, Vol. 12 Issue 5, pN.PAG-N.PAG. 7p.

Subject Terms: *SANFILIPPO syndrome, *SYMPTOMS, *KALLMANN syndrome, *CONGENITAL heart disease, *HAPLOTYPES, *MUCOPOLYSACCHARIDOSIS

Geographic Terms: MEXICO

Music therapy and Sanfilippo syndrome: an analysis of psychological and physiological variables of three case studies.

Authors: Pérez-Núñez, P.¹ (AUTHOR) paula.perezn@deusto.es, Lázaro, E.¹ (AUTHOR), Amayra, I.¹ (AUTHOR), López-Paz, J. F.¹ (AUTHOR), Caballero, P.¹ (AUTHOR), Martínez, O.¹ (AUTHOR), Pérez, M.¹ (AUTHOR), Berrocoso, S.¹ (AUTHOR), Al-Rashaida, M.¹ (AUTHOR), García, M.¹ (AUTHOR), Rodríguez, A. A.¹ (AUTHOR), Luna, P. M.¹ (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 11/20/2021, Vol. 16 Issue 1, p1-14. 14p.

Subject Terms: *MUSIC therapy, *SANFILIPPO syndrome, *PSYCHOTHERAPY, *PARENTS, *CASE studies

Perioperative care of a child with Sanfilippo syndrome for adenotonsillectomy.

Authors: Bekiroglu, I.¹ Ismail.Bekiroglu@Nationwidechildrens.org, Tobias, J. D.^1,2

Source: Pediatric Anesthesia & Critical Care Journal (PACCJ). 2021, Vol. 9 Issue 1, p30-35. 6p.

Subject Terms: *PERIOPERATIVE care, *SANFILIPPO syndrome, *ADENOTONSILLECTOMY

Pediatric Interventions in a Sanfilippo Syndrome Patient Under General Anesthesia: A Case Report.

Authors: Al Malak, Ahmad, Issawi, Hassan, Hassoun, Mohammad, Al Halabi, Mohammad, Macan, Darko

Source: Case Reports in Dentistry; 1/5/2025, Vol. 2025, p1-7, 7p

Subject Terms: SANFILIPPO syndrome, SYMPTOMS, POSTURE disorders, LYSOSOMAL storage diseases, METABOLIC disorders

Extracellular Vesicles as Tools for Crossing the Blood–Brain Barrier to Treat Lysosomal Storage Diseases.

Authors: Lerussi, Giovanni, Villagrasa-Araya, Verónica, Moltó-Abad, Marc, del Toro, Mireia, Pintos-Morell, Guillem, Seras-Franzoso, Joaquin, Abasolo, Ibane

Source: Life (2075-1729); Jan2025, Vol. 15 Issue 1, p70, 30p

Subject Terms: LYSOSOMAL storage diseases, ENZYME replacement therapy, ANGIOKERATOMA corporis diffusum, SANFILIPPO syndrome, EXTRACELLULAR vesicles

Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene.

Authors: Liang, Yingjun¹ (AUTHOR), Gao, Xiaolan¹ (AUTHOR), Lu, Deyun¹ (AUTHOR), Zhang, Huiwen¹ (AUTHOR) zhanghuiwen@xinhuamed.com.cn, Zhang¹ (AUTHOR)

Source: Metabolic Brain Disease. Aug2023, Vol. 38 Issue 6, p2013-2023. 11p.

Subject Terms: *GENETIC variation, *SANFILIPPO syndrome, *MUCOPOLYSACCHARIDOSIS, *LYSOSOMAL storage diseases, *WHOLE genome sequencing

Biomarkers for predicting disease course in Sanfilippo syndrome: An urgent unmet need in childhood‐onset dementia.

Authors: Winner, Leanne K.¹ (AUTHOR) leanne.winner@flinders.edu.au, Rogers, Mary‐Louise² (AUTHOR), Snel, Marten F.³ (AUTHOR), Hemsley, Kim M.¹ (AUTHOR)

Source: Journal of Neurochemistry. Aug2023, Vol. 166 Issue 3, p481-496. 16p.

Subject Terms: *SANFILIPPO syndrome, *GLIAL fibrillary acidic protein, *DISEASE progression, *DEMENTIA, *MAGNETIC resonance imaging

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

Authors: Mohanty, Diksha¹ (AUTHOR) diksha.mohanty@ucsf.edu, Riordan, Heather R. M.² (AUTHOR) riordanh@kennedykrieger.org, Hedera, Peter³ (AUTHOR) diksha.mohanty@ucsf.edu

Source: Toxins. Jul2024, Vol. 16 Issue 7, p286. 9p.

Subject Terms: *HEPATOLENTICULAR degeneration, *FOCAL dystonia, *SANFILIPPO syndrome, *GLOBUS pallidus, *DYSTONIA, *BOTULINUM A toxins, *BOTULINUM toxin

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

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

Source: Orphanet Journal of Rare Diseases; 10/3/2024, Vol. 19 Issue 1, p1-16, 16p

Subject Terms: LYSOSOMAL storage diseases, ANGIOKERATOMA corporis diffusum, GAUCHER'S disease, SANFILIPPO syndrome, PATIENT preferences

Multi-omics analyses of early-onset familial Alzheimer's disease and Sanfilippo syndrome zebrafish models reveal commonalities in disease mechanisms

Authors: Barthelson, Karissa ^{a, b, ⁎}, Protzman, Rachael A. ^c, Snel, Marten F. ^{c, d}, Hemsley, Kim ^{a, 1}, Lardelli, Michael ^{b, 1}

Source: In BBA - Molecular Basis of Disease March 2025 1871(3)

Behavioural disorders and sleep problems in Sanfilippo syndrome: overlaps with some other conditions and importance indications.

Authors: Wiśniewska, Karolina (AUTHOR), Wolski, Jakub (AUTHOR), Anikiej-Wiczenbach, Paulina (AUTHOR), Żabińska, Magdalena (AUTHOR), Węgrzyn, Grzegorz (AUTHOR), Pierzynowska, Karolina¹ (AUTHOR) karolina.pierzynowska@ug.edu.pl

Source: European Child & Adolescent Psychiatry. Mar2025, p1-22.

Subject Terms: *SANFILIPPO syndrome, *SLEEP, *MEDICAL care, *SLEEP interruptions, *SLEEP disorders

Could the microbiota contribute to the symptomatology of Sanfilippo syndrome? A report in two affected siblings.

Authors: Avendaño-Ortiz, José¹ (AUTHOR), Herranz, Raquel Barbero¹ (AUTHOR), Morell, Guillem Pintos² (AUTHOR), Palacios, Esther¹ (AUTHOR), Blanco, Ana Moreno¹ (AUTHOR), Arconada, Beatriz³ (AUTHOR), Ruiz-Sala, Pedro⁴ (AUTHOR), Belanger-Quintana, Amaya¹ (AUTHOR), Stanescu, Sinziana¹ (AUTHOR), Garriga-García, María¹ (AUTHOR), Del Campo, Rosa¹ (AUTHOR)

Source: Molecular Genetics & Metabolism. Feb2025, Vol. 144 Issue 2, pN.PAG-N.PAG. 1p.

Subject Terms: *SANFILIPPO syndrome, *SYMPTOMS, *SIBLINGS

Targeted therapeutic benefits of anakinra for sleep, gastrointestinal, and behavioral symptoms in Sanfilippo syndrome: A post hoc analysis in symptom-specific subgroups.

Authors: Acevedo, Jonathan¹ (AUTHOR), O'Neill, Cara² (AUTHOR), Morales, Adolfo¹ (AUTHOR), Iacovino, Michelina¹ (AUTHOR), Chen, Agnes¹ (AUTHOR), Eisengart, Julie B.³ (AUTHOR), Polgreen, Lynda E.¹ (AUTHOR)

Source: Molecular Genetics & Metabolism. Feb2025, Vol. 144 Issue 2, pN.PAG-N.PAG. 1p.

Subject Terms: *SANFILIPPO syndrome, *SLEEP, *SUBGROUP analysis (Experimental design), *SYMPTOMS