Title and authors | Publication | Year |
---|---|---|
Golgi defect as a major contributor to lysosomal dysfunction
Akaaboune SR, Wang Y |
Frontiers in Cell and Developmental Biology | 2024 |
Genetic Testing of a Large Consanguineous Pakistani Family Affected with Mucolipidosis III Gamma Through Next-Generation Sequencing
MA Khan, A Hussain, G Sher, B Zubaida, M Naeem |
Genetic Testing and Molecular Biomarkers | 2018 |
Sweet complementarity: the functional pairing of glycans with lectins
HJ Gabius, JC Manning, J Kopitz, S André, H Kaltner |
Cellular and Molecular Life Sciences | 2016 |
Novel treatment approaches for lysosomal disorders
TM Cox |
Best Practice & Research Clinical Endocrinology & Metabolism | 2015 |
Sample preparation for mass spectrometric analysis of human serum N-glycans using hydrophilic interaction chromatography-based solid phase extraction
L Cao, Y Zhang, L Chen, A Shen, X Zhang, S Ren, J Gu, L Yu, X Liang |
The Analyst | 2014 |
Encyclopedia of Life Sciences
B Dahlbäck |
Encyclopedia of Life Sciences | 2011 |
Early initiation of enzyme replacement therapy improves metabolic correction in the brain tissue of aspartylglycosaminuria mice
U Dunder, P Valtonen, E Kelo, I Mononen |
Journal of Inherited Metabolic Disease | 2010 |
Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann–Pick C1 disease — Lysosomal storage disorders caused by defects of non-lysosomal proteins
T Dierks, L Schlotawa, MA Frese, K Radhakrishnan, K Figura, B Schmidt |
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research | 2009 |
Lysosomal Storage Disorders
JA Barranger, MA Cabrera-Salazar |
2007 | |
Abnormal expressions of the subunits of the UDP-N-acetylglucosamine: lysosomal enzyme, N-acetylglucosamine-1-phosphotransferase, result in the formation of cytoplasmic vacuoles resembling those of the I-cells
CY Ho, NL Tang, AK Yeung, AK Lau, J Hui, AW Lo |
Journal of Molecular Medicine | 2006 |
Proteinglycosylierung, konserviert von der Bäckerhefe bis zum Menschen: Ein Modellorganismus hilft bei der Aufklärung menschlicher Erbkrankheiten
L Lehle, S Strahl, W Tanner |
Angewandte Chemie | 2006 |
Protein Glycosylation, Conserved from Yeast to Man: A Model Organism Helps Elucidate Congenital Human Diseases
L Lehle, S Strahl, W Tanner |
Angewandte Chemie International Edition | 2006 |
Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase α/β subunits in Korean patients with mucolipidosis type II or type IIIA
KH Paik, SM Song, CS Ki, HW Yu, JS Kim, KH Min, SH Chang, EJ Yoo, IJ Lee, EK Kwan, SJ Han, DK Jin |
Human Mutation | 2005 |
Glycohistochemistry: The Why and How of Detection and Localization of Endogenous Lectins
HJ Gabius |
Anatomia, Histologia, Embryologia: Journal of Veterinary Medicine Series C | 2001 |