Glycosylation abnormalities in Gdt1p/TMEM165 deficient cells result from a defect in Golgi manganese homeostasis

Human glycosylation disorders

(2017) Donna Krasnewich   Cancer Biomarkers

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

(2015) Julien H. Park et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Manganese Redistribution by Calcium-stimulated Vesicle Trafficking Bypasses the Need for P-type ATPase Function

(2015) Néstor García-Rodríguez et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation

(2015) Monique van Scherpenzeel et al.   Translational Research

Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways

(2014) Hudson H. Freeze et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Congenital disorders of glycosylation: new defects and still counting

(2014) Kyle Scott et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Regulation of Cation Balance in Saccharomyces cerevisiae

(2013) M. S. Cyert et al.   GENETICS

Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II

(2013) C. Rosnoblet et al.   HUMAN MOLECULAR GENETICS

Understanding Human Glycosylation Disorders: Biochemistry Leads the Charge

(2013) Hudson H. Freeze   JOURNAL OF BIOLOGICAL CHEMISTRY

Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells

(2013) D. Demaegd et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation

(2012) François Foulquier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

NIH Image to ImageJ: 25 years of image analysis

(2012) Caroline A Schneider et al.   NATURE METHODS

Golgi phosphoprotein 4 (GPP130) is a sensitive and selective cellular target of manganese exposure

(2012) Melisa Masuda et al.   SYNAPSE

Manganese-induced Trafficking and Turnover of the cis-Golgi Glycoprotein GPP130

(2010) Somshuvra Mukhopadhyay et al.   MOLECULAR BIOLOGY OF THE CELL

Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation

(2009) P. Paesold-Burda et al.   HUMAN MOLECULAR GENETICS

Golgi function and dysfunction in the first COG4-deficient CDG type II patient

(2009) Ellen Reynders et al.   HUMAN MOLECULAR GENETICS