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A Promising Future: Comparable Imaging Capability of MRI-Compatible Silicon Photomultiplier and Conventional Photosensor Preclinical PET Systems.
Krizsan AK, Lajtos I, Dahlbom M, Daver F, Emri M, Kis SA, Opposits G, Pohubi L, Potari N, Hegyesi G, Kalinka G, Gal J, Imrek J, Nagy F, Valastyan I, Kiraly B, Molnar J, Sanfilippo D, Balkay L. Krizsan AK, et al. Among authors: sanfilippo d. J Nucl Med. 2015 Dec;56(12):1948-53. doi: 10.2967/jnumed.115.157677. Epub 2015 Oct 8. J Nucl Med. 2015. PMID: 26449836 Free article.
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 …
[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 …
Mucopolysaccharidosis (MPS IIIA) mice have increased lung compliance and airway resistance, decreased diaphragm strength, and no change in alveolar structure.
Paget TL, Larcombe AN, Pinniger GJ, Tsioutsias I, Schneider JP, Parkinson-Lawrence EJ, Orgeig S. Paget TL, et al. Am J Physiol Lung Cell Mol Physiol. 2024 Jun 1;326(6):L713-L726. doi: 10.1152/ajplung.00445.2022. Epub 2024 Mar 5. Am J Physiol Lung Cell Mol Physiol. 2024. PMID: 38469649
Mucopolysaccharidosis type IIIA (MPS IIIA) is characterized by neurological and skeletal pathologies caused by reduced activity of the lysosomal hydrolase, sulfamidase, and the subsequent primary accumulation of undegraded heparan sulfate (HS). ...In conclusion, the increa …
Mucopolysaccharidosis type IIIA (MPS IIIA) is characterized by neurological and skeletal pathologies caused by reduced activity of th …
1,165 results