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Showing 1 to 10 of 10 entries
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Infantile Sandhoff Disease: Unusual presentation.

Medical journal, Armed Forces India

Muralidharan CG, Tomar RP.
PMID: 28050081
Med J Armed Forces India. 2016 Dec;72:S91-S93. doi: 10.1016/j.mjafi.2015.11.008. Epub 2016 Feb 22.

No abstract available.

Computational DFT investigation of vicinal amide group anchimeric assistance in ether cleavage.

The Journal of organic chemistry

Calvaresi M, Rinaldi S, Arcelli A, Garavelli M.
PMID: 18288862
J Org Chem. 2008 Mar 21;73(6):2066-73. doi: 10.1021/jo701394z. Epub 2008 Feb 21.

Density functional theory (DFT) computations in solvent have been used to investigate the mechanism of anchimeric assistance (by a vicinal amide group) in the acid-induced ether cleavage. The calculations were carried out at the B3LYP/6-31G* level of theory via...

Computational Studies on the Potency and Selectivity of PUGNAc Derivatives Against GH3, GH20, and GH84 β-N-acetyl-D-hexosaminidases.

Frontiers in chemistry

Dong L, Shen S, Xu Y, Wang L, Feng R, Zhang J, Lu H.
PMID: 31111026
Front Chem. 2019 Apr 12;7:235. doi: 10.3389/fchem.2019.00235. eCollection 2019.

β-N-acetyl-D-hexosaminidases have attracted significant attention due to their crucial role in diverse physiological functions including antibacterial synergists, pathogen defense, virus infection, lysosomal storage, and protein glycosylation. In particular, the GH3 β-N-acetyl-D-hexosaminidase of

GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series).

Iranian journal of child neurology

Karimzadeh P, Jafari N, Nejad Biglari H, Jabbeh Dari S, Ahmad Abadi F, Alaee MR, Nemati H, Saket S, Tonekaboni SH, Taghdiri MM, Ghofrani M.
PMID: 25143775
Iran J Child Neurol. 2014;8(3):55-60.

OBJECTIVE: GM2-Gangliosidosis disease is a rare autosomal recessive genetic disorder that includes two disorders (Tay-Sachs and Sandhoff disease).These disorders cause a progressive deterioration of nerve cells and inherited deficiency in creating hexosaminidases A, B, and AB.MATERIALS & METHODS: Patients...

N-acetyl-β-D-hexosaminidases mediate the generation of paucimannosidic proteins via a putative noncanonical truncation pathway in human neutrophils.

Glycobiology

Ugonotti J, Kawahara R, Loke I, Zhu Y, Chatterjee S, Tjondro HC, Sumer-Bayraktar Z, Neelamegham S, Thaysen-Andersen M.
PMID: 34939086
Glycobiology. 2021 Oct 18; doi: 10.1093/glycob/cwab108. Epub 2021 Oct 18.

We recently discovered that human neutrophils express immunomodulatory glycoproteins carrying unusual and highly truncated paucimannosidic N-glycans (Man1-3GlcNAc2Fuc0-1), but their biosynthesis remains elusive. Guided by the well-characterized truncation pathway in invertebrates and plants in which the N-acetyl-β-D-hexosaminidase (Hex) isoenzymes catalyze...

Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering.

Neuromuscular disorders : NMD

Alonso-Pérez J, Casasús A, Gimenez-Muñoz Á, Duff J, Rojas-Garcia R, Illa I, Straub V, Töpf A, Díaz-Manera J.
PMID: 34210542
Neuromuscul Disord. 2021 Aug;31(8):769-772. doi: 10.1016/j.nmd.2021.04.011. Epub 2021 May 27.

Defects in the HEXB gene which encodes the β-subunit of β-hexosaminidase A and B enzymes, cause a GM2 gangliosidosis, also known as Sandhoff disease, which is a rare lysosomal storage disorder. The most common form of the disease lead...

Differential assay of human hexosaminidases A and B.

The Biochemical journal

Dance N, Price RG, Robinson D.
PMID: 5500321
Biochem J. 1970 Sep;119(3):5P. doi: 10.1042/bj1190005pa.
Free PMC Article

No abstract available.

Transglycosylation of Thiamin by Fungal β-N-Acetylhexosaminidases.

Bioscience, biotechnology, and biochemistry

Kren V, Hunkova Z, Halada P, Suzuki Y.
PMID: 27392399
Biosci Biotechnol Biochem. 1998;62(12):2415-7. doi: 10.1271/bbb.62.2415.

A new thiamin glycoside, e.g., thiamin β-D-2-deoxy-2-acetamidoglucopyranoside was prepared by transglycosylation by β-N-acetylhexosaminidase from Aspergillus oryzae and characterized spectrally. Series of other fungal β-N-acetyl-hexosaminidases from A. awamori, A. tamari, A. terreus, and Penicillium oxalicum were shown to be able...

β-Hexosaminidases Along the Secretory Pathway of .

Frontiers in plant science

Alvisi N, van Noort K, Dwiani S, Geschiere N, Sukarta O, Varossieau K, Nguyen DL, Strasser R, Hokke CH, Schots A, Wilbers RHP.
PMID: 33815445
Front Plant Sci. 2021 Mar 17;12:638454. doi: 10.3389/fpls.2021.638454. eCollection 2021.

Secretions of parasitic worms (helminths) contain a wide collection of immunomodulatory glycoproteins with the potential to treat inflammatory disorders, like autoimmune diseases. Yet, the identification of single molecules that can be developed into novel biopharmaceuticals is hampered by the...

Mammal hyaluronidase activity on chondroitin sulfate and dermatan sulfate: Mass spectrometry analysis of oligosaccharide products.

Glycobiology

Bilong M, Bayat P, Bourderioux M, Jérôme M, Giuliani A, Daniel R.
PMID: 33442722
Glycobiology. 2021 Aug 07;31(7):751-761. doi: 10.1093/glycob/cwab004.

Mammalian hyaluronidases are endo-N-acetyl-D-hexosaminidases involved in the catabolism of hyaluronic acid (HA) but their role in the catabolism of chondroitin sulfate (CS) is also examined. HA and CS are glycosaminoglycans implicated in several physiological and pathological processes, and understanding...

Showing 1 to 10 of 10 entries