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Novel gene-specific Bayesian Gaussian mixture model to predict the missense variants pathogenicity of Sanfilippo syndrome.
Mohammed EEA, Fayez AG, Abdelfattah NM, Fateen E. Mohammed EEA, et al. Sci Rep. 2024 May 27;14(1):12148. doi: 10.1038/s41598-024-62352-0. Sci Rep. 2024. PMID: 38802532
MPS III is an autosomal recessive lysosomal storage disease caused mainly by missense variants in the NAGLU, GNS, HGSNAT, and SGSH genes. ...
MPS III is an autosomal recessive lysosomal storage disease caused mainly by missense variants in the NAGLU, GNS, HGSNAT, and SGSH ge …
[Importance of lysosomal storage diseases in rheumatology].
Aries C, Rudolph C, Muschol N. Aries C, et al. Z Rheumatol. 2024 May 27. doi: 10.1007/s00393-024-01521-y. Online ahead of print. Z Rheumatol. 2024. PMID: 38802503 German.
As clinical symptoms include the musculoskeletal system, an awareness of lysosomal storage diseases is of relevance to (pediatric) rheumatologists. This article is focused on Mucopolysaccharidosis type I-S, Mucolipidosis type III, Gaucher disease and Fabry disease. …
As clinical symptoms include the musculoskeletal system, an awareness of lysosomal storage diseases is of relevance to (pediatric) rheumatol …
Heterologous HSPC Transplantation Rescues Neuroinflammation and Ameliorates Peripheral Manifestations in the Mouse Model of Lysosomal Transmembrane Enzyme Deficiency, MPS IIIC.
Pan X, Caillon A, Fan S, Khan S, Tomatsu S, Pshezhetsky AV. Pan X, et al. Cells. 2024 May 20;13(10):877. doi: 10.3390/cells13100877. Cells. 2024. PMID: 38786099 Free PMC article.
Mucopolysaccharidosis III type C (MPS IIIC) is an untreatable neuropathic lysosomal storage disease caused by a genetic deficiency of the lysosomal N-acetyltransferase, HGSNAT, catalyzing a transmembrane acetylation of heparan sulfate. ...
Mucopolysaccharidosis III type C (MPS IIIC) is an untreatable neuropathic lysosomal storage disease caused by a genetic defici …
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 …
1,311 results