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Current Concepts in the Management of Sanfilippo Syndrome (MPS III): A Narrative Review.
Alyazidi AS, Muthaffar OY, Baaishrah LS, Shawli MK, Jambi AT, Aljezani MA, Almaghrabi MA. Alyazidi AS, et al. Cureus. 2024 Apr 11;16(4):e58023. doi: 10.7759/cureus.58023. eCollection 2024 Apr. Cureus. 2024. PMID: 38738088 Free PMC article. Review.
Sanfilippo syndrome is a childhood-onset (1-4 years) autosomal recessive lysosomal storage disease that presents as a neurodegenerative disease by targeting the brain and spinal cord. It is also known as mucopolysaccharidosis III. Mucopolysaccharidosis III …
Sanfilippo syndrome is a childhood-onset (1-4 years) autosomal recessive lysosomal storage disease that presents as a neurodegenerative dise …
Characterization of early markers of disease in the mouse model of mucopolysaccharidosis IIIB.
McCullough KB, Titus A, Reardon K, Conyers S, Dougherty JD, Ge X, Garbow JR, Dickson P, Yuede CM, Maloney SE. McCullough KB, et al. J Neurodev Disord. 2024 Apr 17;16(1):16. doi: 10.1186/s11689-024-09534-z. J Neurodev Disord. 2024. PMID: 38632525 Free PMC article.
BACKGROUND: Mucopolysaccharidosis (MPS) IIIB, also known as Sanfilippo Syndrome B, is a devastating childhood disease. ...
BACKGROUND: Mucopolysaccharidosis (MPS) IIIB, also known as Sanfilippo Syndrome B, is a devastating childhood disease. ...
Identification and characterization of novel genetic variants in the first Chinese family of mucopolysaccharidosis IIIC (Sanfilippo C syndrome).
Zhao H, Wang L, Zhang M, Wang H, Zhang S, Wu J, Tang Y. Zhao H, et al. J Cell Mol Med. 2024 Apr;28(8):e18307. doi: 10.1111/jcmm.18307. J Cell Mol Med. 2024. PMID: 38613342 Free PMC article.
Mucopolysaccharidosis type IIIC (MPS IIIC) is one of inherited lysosomal storage disorders, caused by deficiencies in lysosomal hydrolases degrading acidic mucopolysaccharides. ...
Mucopolysaccharidosis type IIIC (MPS IIIC) is one of inherited lysosomal storage disorders, caused by deficiencies in lysosomal hydro …
Cellular Organelle-Related Transcriptomic Profile Abnormalities in Neuronopathic Types of Mucopolysaccharidosis: A Comparison with Other Neurodegenerative Diseases.
Wiśniewska K, Gaffke L, Żabińska M, Węgrzyn G, Pierzynowska K. Wiśniewska K, et al. Curr Issues Mol Biol. 2024 Mar 21;46(3):2678-2700. doi: 10.3390/cimb46030169. Curr Issues Mol Biol. 2024. PMID: 38534785 Free PMC article.
There are 14 types/subtypes of MPS, which are differentiated by the kind(s) of accumulated GAG(s) and the type of a non-functional lysosomal enzyme. Some of these types (severe forms of MPS types I and II, MPS III, and MPS VII) are characterized by extensive central nervou …
There are 14 types/subtypes of MPS, which are differentiated by the kind(s) of accumulated GAG(s) and the type of a non-functional lysosomal …
Genetic features of patients with MPS type IIIB: Description of five pathogenic gene variations.
Nasir Shalal M, Aminzadeh M, Saberi A, Azizi Malmiri R, Aminzadeh R, Ghandil P. Nasir Shalal M, et al. Gene. 2024 Jun 30;913:148354. doi: 10.1016/j.gene.2024.148354. Epub 2024 Mar 15. Gene. 2024. PMID: 38492611
BACKGROUND: There are four distinct forms of Sanfilippo syndrome (MPS type III), each of which is an autosomal lysosomal storage disorder. ...
BACKGROUND: There are four distinct forms of Sanfilippo syndrome (MPS type III), each of which is an autosomal lysosomal storage diso …
[Natural history of mucopolysaccharidosis type III in a series of Colombian patients].
Cabarcas L, Ramón JL, Espinosa E, Guerrero GP, Martínez N, Santamaría N, Lince I, Reyes S. Cabarcas L, et al. Rev Neurol. 2024 Mar 16;78(6):171-177. doi: 10.33588/rn.7806.2023281. Rev Neurol. 2024. PMID: 38482704 Free article. Spanish.
INTRODUCTION: Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a lysosomal storage disease with progressive neurodegenerative features, predominantly affecting the central nervous system. ...CASE REPORTS: A clinical description …
INTRODUCTION: Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a lysosomal storage disea …
Caregiver experiences and observations of intrathecal idursulfase-IT treatment in a phase 2/3 trial in pediatric patients with neuronopathic mucopolysaccharidosis II.
Yee KS, Lewis S, Evans E, Romano C, Alexanderian D. Yee KS, et al. Orphanet J Rare Dis. 2024 Mar 10;19(1):110. doi: 10.1186/s13023-024-03034-y. Orphanet J Rare Dis. 2024. PMID: 38462612 Free PMC article. Clinical Trial.
BACKGROUND: Approximately two-thirds of patients with mucopolysaccharidosis II (MPS II) have a severe, neuronopathic phenotype, characterized by somatic, cognitive, and behavioral issues. ...
BACKGROUND: Approximately two-thirds of patients with mucopolysaccharidosis II (MPS II) have a severe, neuronopathic phenotype, chara …
Investigation on lysosomal accumulation by a quantitative analysis of 2D phase-maps in digital holography microscopy.
Giugliano G, Schiavo M, Pirone D, Běhal J, Bianco V, Montefusco S, Memmolo P, Miccio L, Ferraro P, Medina DL. Giugliano G, et al. Cytometry A. 2024 May;105(5):323-331. doi: 10.1002/cyto.a.24833. Epub 2024 Feb 29. Cytometry A. 2024. PMID: 38420869
Here we proof the effectiveness of the QPI-DH method in accomplishing the detection of the lysosomal compartment using mouse embryonic fibroblasts (MEFs) derived from a Mucopolysaccharidosis type III-A (MSP-IIIA) mouse model, and comparing them with wild-type (WT) M …
Here we proof the effectiveness of the QPI-DH method in accomplishing the detection of the lysosomal compartment using mouse embryonic fibro …
Evidence of epigenetic landscape shifts in mucopolysaccharidosis IIIB and IVA.
Vargas-López V, Prada LF, Alméciga-Díaz CJ. Vargas-López V, et al. Sci Rep. 2024 Feb 17;14(1):3961. doi: 10.1038/s41598-024-54626-4. Sci Rep. 2024. PMID: 38368436 Free PMC article.
In this study, we focused on the potential role of epigenetic mechanisms in the pathogenesis of mucopolysaccharidosis IIIB (MPS IIIB) and mucopolysaccharidosis IVA (MPS IVA). ...
In this study, we focused on the potential role of epigenetic mechanisms in the pathogenesis of mucopolysaccharidosis IIIB (MPS IIIB) …
1,306 results