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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1967 1
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1973 3
1974 3
1975 2
1976 4
1977 1
1978 5
1979 5
1980 5
1981 7
1982 6
1983 9
1984 13
1985 5
1986 7
1987 6
1988 6
1989 8
1990 3
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1992 5
1993 9
1994 7
1995 7
1996 13
1997 8
1998 16
1999 7
2000 12
2001 12
2002 10
2003 5
2004 4
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2006 9
2007 17
2008 16
2009 16
2010 20
2011 22
2012 12
2013 17
2014 47
2015 35
2016 30
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Page 1
N-Substituted l-Iminosugars for the Treatment of Sanfilippo Type B Syndrome.
De Pasquale V, Esposito A, Scerra G, Scarcella M, Ciampa M, Luongo A, D'Alonzo D, Guaragna A, D'Agostino M, Pavone LM. De Pasquale V, et al. J Med Chem. 2023 Feb 9;66(3):1790-1808. doi: 10.1021/acs.jmedchem.2c01617. Epub 2023 Jan 25. J Med Chem. 2023. PMID: 36696678 Free PMC article.
Sanfilippo syndrome comprises a group of four genetic diseases due to the lack or decreased activity of enzymes involved in heparan sulfate (HS) catabolism. HS accumulation in lysosomes and other cellular compartments results in tissue and organ dysfunctions, leading to a …
Sanfilippo syndrome comprises a group of four genetic diseases due to the lack or decreased activity of enzymes involved in heparan s …
How close are we to therapies for Sanfilippo disease?
Gaffke L, Pierzynowska K, Piotrowska E, Węgrzyn G. Gaffke L, et al. Metab Brain Dis. 2018 Feb;33(1):1-10. doi: 10.1007/s11011-017-0111-4. Epub 2017 Sep 18. Metab Brain Dis. 2018. PMID: 28921412 Free PMC article. Review.
Sanfilippo disease is one of mucopolysaccharidoses (MPS), a group of lysosomal storage diseases characterized by accumulation of partially degraded glycosaminoglycans (GAGs). ...In each subtype of MPS III, the primary storage GAG is heparan sulfate (HS), but mutations lead …
Sanfilippo disease is one of mucopolysaccharidoses (MPS), a group of lysosomal storage diseases characterized by accumulation of part …
PLA2G4A/cPLA2-mediated lysosomal membrane damage leads to inhibition of autophagy and neurodegeneration after brain trauma.
Sarkar C, Jones JW, Hegdekar N, Thayer JA, Kumar A, Faden AI, Kane MA, Lipinski MM. Sarkar C, et al. Autophagy. 2020 Mar;16(3):466-485. doi: 10.1080/15548627.2019.1628538. Epub 2019 Jun 25. Autophagy. 2020. PMID: 31238788 Free PMC article.
Together, our data indicate that PLA2G4A -mediated lysosomal membrane damage is involved in neuronal cell death following CCI-induced TBI and potentially in other neurodegenerative disorders.Abbreviations: AACOCF(3), arachidonyl trifluoromethyl ketone; ACTB/beta-actin, actin, bet …
Together, our data indicate that PLA2G4A -mediated lysosomal membrane damage is involved in neuronal cell death following CCI-induced TBI an …
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.
Feldhammer M, Durand S, Mrázová L, Boucher RM, Laframboise R, Steinfeld R, Wraith JE, Michelakakis H, van Diggelen OP, Hrebícek M, Kmoch S, Pshezhetsky AV. Feldhammer M, et al. Hum Mutat. 2009 Jun;30(6):918-25. doi: 10.1002/humu.20986. Hum Mutat. 2009. PMID: 19479962 Review.
Mucopolysaccharidosis (MPS) type IIIC or Sanfilippo syndrome type C is a rare autosomal recessive disorder caused by the deficiency of the lysosomal membrane enzyme, heparan sulfate acetyl-CoA (AcCoA): alpha-glucosaminide N-acetyltransferase (HGSNAT; EC 2.3.1.78), w …
Mucopolysaccharidosis (MPS) type IIIC or Sanfilippo syndrome type C is a rare autosomal recessive disorder caused by the deficiency o …
Mucopolysaccharidosis Type III.
Wagner VF, Northrup H. Wagner VF, et al. 2019 Sep 19. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2019 Sep 19. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 31536183 Free Books & Documents. Review.
Biomarkers for predicting disease course in Sanfilippo syndrome: An urgent unmet need in childhood-onset dementia.
Winner LK, Rogers ML, Snel MF, Hemsley KM. Winner LK, et al. J Neurochem. 2023 Aug;166(3):481-496. doi: 10.1111/jnc.15891. Epub 2023 Jun 26. J Neurochem. 2023. PMID: 37357981 Review.
Sanfilippo syndrome (MPS III) is an autosomal recessive inherited disorder causing dementia in children, following an essentially normal early developmental period. ...Therefore, the capacity to stratify which Sanfilippo infants will need treatment in toddlerhood is …
Sanfilippo syndrome (MPS III) is an autosomal recessive inherited disorder causing dementia in children, following an essentially nor …
Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial.
Wijburg FA, Whitley CB, Muenzer J, Gasperini S, Del Toro M, Muschol N, Cleary M, Sevin C, Shapiro E, Bhargava P, Kerr D, Alexanderian D. Wijburg FA, et al. Mol Genet Metab. 2019 Feb;126(2):121-130. doi: 10.1016/j.ymgme.2018.10.006. Epub 2018 Oct 24. Mol Genet Metab. 2019. PMID: 30528227 Free article. Clinical Trial.
BACKGROUND: Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA) is a lysosomal disorder wherein deficient heparan-N-sulfatase (HNS) activity results in the accumulation of heparan sulfate in the central nervous system and is associated with progressive neur …
BACKGROUND: Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA) is a lysosomal disorder wherein deficient heparan-N-s …
Sanfilippo Syndrome: Molecular Basis, Disease Models and Therapeutic Approaches.
Benetó N, Vilageliu L, Grinberg D, Canals I. Benetó N, et al. Int J Mol Sci. 2020 Oct 22;21(21):7819. doi: 10.3390/ijms21217819. Int J Mol Sci. 2020. PMID: 33105639 Free PMC article. Review.
Sanfilippo syndrome or mucopolysaccharidosis III is a lysosomal storage disorder caused by mutations in genes responsible for the degradation of heparan sulfate, a glycosaminoglycan located in the extracellular membrane. ...Here, we compile the knowledge on this issue and …
Sanfilippo syndrome or mucopolysaccharidosis III is a lysosomal storage disorder caused by mutations in genes responsible for the deg …
719 results