Search details
1.
Histological characterization of retinal degeneration in mucopolysaccharidosis type IIIC.
Exp Eye Res
; 229: 109433, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36858249
2.
The Janus-like role of neuraminidase isoenzymes in inflammation.
FASEB J
; 36(5): e22285, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35363389
3.
Cathepsin B-associated Activation of Amyloidogenic Pathway in Murine Mucopolysaccharidosis Type I Brain Cortex.
Int J Mol Sci
; 21(4)2020 Feb 20.
Article
in English
| MEDLINE | ID: mdl-32093427
4.
Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease.
Hum Mutat
; 40(8): 1084-1100, 2019 08.
Article
in English
| MEDLINE | ID: mdl-31228227
5.
A novel adeno-associated virus capsid with enhanced neurotropism corrects a lysosomal transmembrane enzyme deficiency.
Brain
; 141(7): 2014-2031, 2018 07 01.
Article
in English
| MEDLINE | ID: mdl-29788236
6.
Persistent reduction in sialylation of cerebral glycoproteins following postnatal inflammatory exposure.
J Neuroinflammation
; 15(1): 336, 2018 Dec 05.
Article
in English
| MEDLINE | ID: mdl-30518374
7.
Anatomical changes and pathophysiology of the brain in mucopolysaccharidosis disorders.
Mol Genet Metab
; 125(4): 322-331, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30145178
8.
Neuraminidases 3 and 4 regulate neuronal function by catabolizing brain gangliosides.
FASEB J
; 31(8): 3467-3483, 2017 08.
Article
in English
| MEDLINE | ID: mdl-28442549
9.
Keeping it trim: roles of neuraminidases in CNS function.
Glycoconj J
; 35(4): 375-386, 2018 08.
Article
in English
| MEDLINE | ID: mdl-30088207
10.
Serine carboxypeptidase SCPEP1 and Cathepsin A play complementary roles in regulation of vasoconstriction via inactivation of endothelin-1.
PLoS Genet
; 10(2): e1004146, 2014 Feb.
Article
in English
| MEDLINE | ID: mdl-24586188
11.
De novo mutations in moderate or severe intellectual disability.
PLoS Genet
; 10(10): e1004772, 2014 Oct.
Article
in English
| MEDLINE | ID: mdl-25356899
12.
Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model.
Brain
; 138(Pt 2): 336-55, 2015 Feb.
Article
in English
| MEDLINE | ID: mdl-25567323
13.
Heterologous HSPC Transplantation Rescues Neuroinflammation and Ameliorates Peripheral Manifestations in the Mouse Model of Lysosomal Transmembrane Enzyme Deficiency, MPS IIIC.
Cells
; 13(10)2024 May 20.
Article
in English
| MEDLINE | ID: mdl-38786099
14.
Structure and mechanism of lysosome transmembrane acetylation by HGSNAT.
Nat Struct Mol Biol
; 2024 May 20.
Article
in English
| MEDLINE | ID: mdl-38769387
15.
Secondary deficiency of neuraminidase 1 contributes to CNS pathology in neurological mucopolysaccharidoses via hypersialylation of brain glycoproteins.
bioRxiv
; 2024 Apr 27.
Article
in English
| MEDLINE | ID: mdl-38712143
16.
Hyaluronidase 1 and ß-hexosaminidase have redundant functions in hyaluronan and chondroitin sulfate degradation.
J Biol Chem
; 287(20): 16689-97, 2012 May 11.
Article
in English
| MEDLINE | ID: mdl-22451654
17.
Metabolism of vertebrate amino sugars with N-glycolyl groups: resistance of α2-8-linked N-glycolylneuraminic acid to enzymatic cleavage.
J Biol Chem
; 287(34): 28917-31, 2012 Aug 17.
Article
in English
| MEDLINE | ID: mdl-22692207
18.
A genome-wide association study identifies novel risk loci for type 2 diabetes.
Nature
; 445(7130): 881-5, 2007 Feb 22.
Article
in English
| MEDLINE | ID: mdl-17293876
19.
Mice doubly-deficient in lysosomal hexosaminidase A and neuraminidase 4 show epileptic crises and rapid neuronal loss.
PLoS Genet
; 6(9): e1001118, 2010 Sep 16.
Article
in English
| MEDLINE | ID: mdl-20862357
20.
Effects of Heparan sulfate acetyl-CoA: Alpha-glucosaminide N-acetyltransferase (HGSNAT) inactivation on the structure and function of epithelial and immune cells of the testis and epididymis and sperm parameters in adult mice.
PLoS One
; 18(9): e0292157, 2023.
Article
in English
| MEDLINE | ID: mdl-37756356