A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis

Claudia Kitzmüller, R. L. Haines, S. Codlin, +2

Human Molecular Genetics

Kb DeletionPathologyDisease Gene IdentificationLate OnsetAutophagy +15

Degradation of a Short-lived Glycoprotein from the Lumen of the Endoplasmic Reticulum: The Role of N-linked Glycans and the Unfolded Protein Response

Maddalena de Virgilio, Claudia Kitzmüller, Eva Schwaiger, +3

Molecular Biology of the Cell

Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis

Chiara Aiello, Alessandro Simonati, Giancarlo Discepoli, +18

Human Mutation

GeneticsPathologyDisease Gene IdentificationAffected ChildrenNeuro-oncology +14

Assessing Protein Immunogenicity with a Dendritic Cell Line-Derived Endolysosomal Degradome

Matthias Egger, Alexander Jürets, Michael Wallner, +8

PLoS ONE

A novel role for neutrophils in IgE-mediated allergy: Evidence for antigen presentation in late-phase reactions

Dominika Polak, Christine Häfner, Peter Briza, +8

Journal of Allergy and Clinical Immunology

InflammationIge-mediated AllergyAllergyLate-phase ReactionsAllergy Medicine +7

N-glycan structure of a short-lived variant of ribophorin I expressed in the MadIA214 glycosylation-defective cell line reveals the role of a mannosidase that is not ER mannosidase I in the process of glycoprotein degradation

Myriam Ermonval, Claudia Kitzmüller, M. Amin Mir, +2

Glycobiology

IgE-blocking antibodies following SLIT with recombinant Mal d 1 accord with improved apple allergy

Gabriela Sánchez Acosta, Tamar Kinaciyan, Claudia Kitzmüller, +3

Journal of Allergy and Clinical Immunology

Processing of N-linked glycans during endoplasmic-reticulum-associated degradation of a short-lived variant of ribophorin I

Claudia Kitzmüller, Andréa Caprini, Stuart Moore, +5

Biochemical Journal

GlycobiologyMolecular BiologyShort-lived VariantProtein SynthesisN-linked Glycans +14

Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian Sibship

Anne-Hélène Lebrun, Stephan Storch, Franz Rüschendorf, +11

Human Mutation

GeneticsPathologyDisease Gene IdentificationAsian SibshipAffected Children +19

Human blood basophils do not act as antigen‐presenting cells for the major birch pollen allergen <scp>B</scp>et v 1

Claudia Kitzmüller, Birgit Nagl, Stephan Deifl, +4

Allergy