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| 36873089 | Compound heterozygous variants within two conserved sialyltransferase motifs of cause GM3 synthase deficiency. | | 2023 |
| 36067040 | Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism. | Human Molecular Genetics | 2023 |
| 37676252 | Neural-specific alterations in glycosphingolipid biosynthesis and cell signaling associated with two human ganglioside GM3 synthase deficiency variants. | Hum Mol Genet | 2023 |
| 37727271 | Base editing corrects the common Salla disease c.115C>T variant. | | 2023 |
| 35602653 | Disruption of cellular iron homeostasis by <i>IREB2</i> missense variants causes severe neurodevelopmental delay, dystonia and seizures. | Brain Commun | 2022 |
| 36214454 | Evolutionary rescue of phosphomannomutase deficiency in yeast models of human disease. | eLife | 2022 |
| 35801587 | Phenylbutyrate modulates polyamine acetylase and ameliorates Snyder-Robinson syndrome in a Drosophila model and patient cells. | JCI Insight | 2022 |
| 34784297 | Protease-dependent defects in N-cadherin processing drive PMM2-CDG pathogenesis. | JCI Insight | 2021 |
| 33964207 | A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction. | Am J Hum Genet | 2021 |
| 34117073 | Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked <i>AIFM1</i> variant. | Cold Spring Harb Mol Case Stud | 2021 |
| 34050707 | Syndromic neurodevelopmental disorder associated with de novo variants in DDX23. | American Journal of Medical Genetics, Part A | 2021 |
| 33731878 | Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiency. | Genetics in Medicine | 2021 |
| 33523898 | The translocon-associated protein (TRAP) complex regulates quality control of N-linked glycosylation during ER stress. | Sci Adv | 2021 |
| 33055423 | Inappropriate cathepsin K secretion promotes its enzymatic activation driving heart and valve malformation. | JCI insight | 2020 |
| 31645300 | Evaluation of antihypertensive drugs in combination with enzyme replacement therapy in mice with Pompe disease. | Molecular Genetics and Metabolism | 2020 |
| 31903733 | Functional analysis of a novel mutation in the TIMM8A gene that causes deafness-dystonia-optic neuronopathy syndrome. | Mol Genet Genomic Med | 2020 |
| 32357547 | Upregulation of Sortilin, a Lysosomal Sorting Receptor, Corresponds with Reduced Bioavailability of Latent TGFβ in Mucolipidosis II Cells. | Biomolecules | 2020 |
| 33198351 | A Biochemical Platform to Define the Relative Specific Activity of Variants Identified by Newborn Screening. | International Journal of Neonatal Screening | 2020 |
| 32517081 | The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases. | Cells | 2020 |
| 32910914 | De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity. | American Journal of Human Genetics | 2020 |
| 31101650 | Selective inhibition of N-linked glycosylation impairs receptor tyrosine kinase processing. | Dis Model Mech | 2019 |
| 29539424 | TGF-ÿ Regulates Cathepsin Activation during Normal and Pathogenic Development. | Cell Reports | 2018 |
| 30049793 | Defective mucin-type glycosylation on α-dystroglycan in COG-deficient cells increases its susceptibility to bacterial proteases. | J Biol Chem | 2018 |
| 30046013 | Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking. | JCI Insight | 2018 |
| 28724630 | Altered Met receptor phosphorylation and LRP1-mediated uptake in cells lacking carbohydrate-dependent lysosomal targeting. | J Biol Chem | 2017 |
| 27667795 | Glycosylation and stem cells: Regulatory roles and application of iPSCs in the study of glycosylation-related disorders. | Bioessays | 2016 |
| 27241848 | Enzyme-specific differences in mannose phosphorylation between GlcNAc-1-phosphotransferase αβ and γ subunit deficient zebrafish support cathepsin proteases as early mediators of mucolipidosis pathology. | | 2016 |
| 26733198 | Selective Exo-Enzymatic Labeling Detects Increased Cell Surface Sialoglycoprotein Expression upon Megakaryocytic Differentiation. | J Biol Chem | 2016 |
| 26404503 | Cathepsin-Mediated Alterations in TGFÿ-Related Signaling Underlie Disrupted Cartilage and Bone Maturation Associated With Impaired Lysosomal Targeting. | Journal of Bone and Mineral Research | 2016 |
| 26538499 | Cyclopropenone-caged Sondheimer diyne (dibenzo[a,e]cyclooctadiyne): a photoactivatable linchpin for efficient SPAAC crosslinking. | Chemical Communications | 2016 |
| 26454691 | A beta-blocker, propranolol, decreases the efficacy from enzyme replacement therapy in Pompe disease. | Molecular Genetics and Metabolism | 2016 |
| 26447927 | Evaluation of AAV-mediated Gene Therapy for Central Nervous System Disease in Canine Mucopolysaccharidosis VII. | Molecular Therapy | 2016 |
| 27541995 | One-Step Selective Exoenzymatic Labeling (SEEL) Strategy for the Biotinylation and Identification of Glycoproteins of Living Cells. | J Am Chem Soc | 2016 |
| 25609749 | Abnormal cartilage development and altered N-glycosylation in Tmem165-deficient zebrafish mirrors the phenotypes associated with TMEM165-CDG. | Glycobiology | 2015 |
| 25505245 | Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognition. | Journal of Biological Chemistry | 2015 |
| 24026681 | A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation. | Human Molecular Genetics | 2014 |
| 24045841 | A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain. | Eur J Hum Genet | 2014 |
| 23733939 | The DMAP interaction domain of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase is a substrate recognition module. | Proceedings of the National Academy of Sciences of the United States of America | 2013 |
| 22638861 | Casting light on the role of glycosylation during embryonic development: insights from zebrafish. | Glycoconjugate Journal | 2013 |
| 22899857 | A zebrafish model of congenital disorders of glycosylation with phosphomannose isomerase deficiency reveals an early opportunity for corrective mannose supplementation. | DMM Disease Models and Mechanisms | 2013 |
| 24129959 | Selective exo-enzymatic labeling of N-glycans on the surface of living cells by recombinant ST6Gal I. | Angewandte Chemie - International Edition | 2013 |
| 23733943 | Abnormal accumulation and recycling of glycoproteins visualized in Niemann-Pick type C cells using the chemical reporter strategy. | Proceedings of the National Academy of Sciences of the United States of America | 2013 |
| 22262853 | Latency-associated peptide of transforming growth factor-β1 is not subject to physiological mannose phosphorylation. | Journal of Biological Chemistry | 2012 |
| 22956764 | A zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency. | Molecular Biology of the Cell | 2012 |
| 22376061 | Polar dibenzocyclooctynes for selective labeling of extracellular glycoconjugates of living cells. | Journal of the American Chemical Society | 2012 |
| 22046029 | Excessive activity of cathepsin K is associated with cartilage defects in a zebrafish model of mucolipidosis II. | DMM Disease Models and Mechanisms | 2012 |
| 21661087 | Strain-promoted alkyne-azide cycloadditions (SPAAC) reveal new features of glycoconjugate biosynthesis. | ChemBioChem | 2011 |
| 20858137 | α-Galactosidase A expressed in the salivary glands partially corrects organ biochemical deficits in the fabry mouse through endocrine trafficking. | Hum Gene Ther | 2011 |
| 21722633 | Mislocalization of large ARF-GEFs as a potential mechanism for BFA resistance in COG-deficient cells. | Experimental Cell Research | 2011 |
| 21613225 | Extensive mannose phosphorylation on leukemia inhibitory factor (LIF) controls its extracellular levels by multiple mechanisms. | J Biol Chem | 2011 |