SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

Julien H. Park, Max Hogrebe, Marianne Grüneberg, +21

The American Journal of Human Genetics

Slc39a8 DeficiencyBiochemistryNatural SciencesMetalloproteinMolecular Biology +1

Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy

Motoi Kanagawa, Kazuhiro Kobayashi, Michiko Tajiri, +11

Cell Reports

Rbo5p GlycosylationTandem RepeatProtein FunctionBiochemistrySkeletal Muscle +13

Immunohistochemical distribution of Toll-like receptor 4 in term and preterm human placentas from normal and complicated pregnancy including chorioamnionitis

Kaori Kumazaki, Masahiro Nakayama, Itaru Yanagihara, +2

Human Pathology

Maternal ImmunizationComplicated PregnancyImmunologyGynecologyPregnancy +8

Potentiation of the ligand-binding activity of integrin α3β1 via association with tetraspanin CD151

Noriko Sanzen, Shigeyuki Nada, Yasuhiro Sumida, +5

Proceedings of the National Academy of Sciences

Signal TransductionTetraspanin Cd151MedicineIntegrin α3β1Immunology +12

Expression of vascular endothelial growth factor, placental growth factor, and their receptors Flt-1 and KDR in human placenta under pathologic conditions

Kaori Kumazaki, Masahiro Nakayama, Noriyuki Suehara, +1

Human Pathology

Receptors Flt-1Human PlacentaAngiogenesisDevelopmental BiologyPlacental Growth Factor +9

Molecular Dissection of the α-Dystroglycan- and Integrin-binding Sites within the Globular Domain of Human Laminin-10

Hiroyuki Ido, Kenji Harada, Sugiko Futaki, +7

Journal of Biological Chemistry

Brain Endothelial Cells Produce Amyloid β from Amyloid Precursor Protein 770 and Preferentially Secrete the O-Glycosylated Form

Shinobu Kitazume, Yuriko Tachida, Masaki Kato, +8

Journal of Biological Chemistry

Protein SecretionGlycobiologyO-glycosylated FormAmyloid Precursor ProteinNeuroinflammation +17

De Novo Mutations in<i>SLC35A2</i>Encoding a UDP-Galactose Transporter Cause Early-Onset Epileptic Encephalopathy

Hirofumi Kodera, Kazuyuki Nakamura, Hitoshi Osaka, +17

Human Mutation

Neurodegenerative DiseasesMutant Slc35a2 AlleleMolecular NeuroscienceDevelopmental BiologyEoee Patients +13

N-Glycosylation of the β-Propeller Domain of the Integrin α5 Subunit Is Essential for α5β1 Heterodimerization, Expression on the Cell Surface, and Its Biological Function

Tomoya Isaji, Yuya Sato, Yanyang Zhao, +4

Journal of Biological Chemistry

Cell AdhesionGlycobiologyCytoskeletonCellular PhysiologyIntegrin Alpha5beta1 +19

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

Jos C. Jansen, Sebahattin Çirak, Monique van Scherpenzeel, +40

The American Journal of Human Genetics

Abnormal Protein GlycosylationBiochemistryDisease MechanismNatural SciencesGlycosylation +9